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    APBA2 amyloid beta precursor protein binding family A member 2 [ Homo sapiens (human) ]

    Gene ID: 321, updated on 2-Nov-2024

    Summary

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    Official Symbol
    APBA2provided by HGNC
    Official Full Name
    amyloid beta precursor protein binding family A member 2provided by HGNC
    Primary source
    HGNC:HGNC:579
    See related
    Ensembl:ENSG00000034053 MIM:602712; AllianceGenome:HGNC:579
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    X11L; MINT2; LIN-10; HsT16821; X11-BETA; D15S1518E; MGC:14091
    Summary
    The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in brain (RPKM 16.8), spleen (RPKM 2.5) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See APBA2 in Genome Data Viewer
    Location:
    15q13.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (28885974..29118315)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (26662979..26895835)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (29131120..29410518)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene PDCD6IP pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr15:29089626-29090172 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29093924-29094058 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29105715-29106316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29122227-29122847 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120363-29120984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29120985-29121605 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29121606-29122226 Neighboring gene golgin A6 family like 7 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:29141496-29142056 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29144665-29144856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29145615-29146168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29146721-29147272 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29147273-29147824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148359-29148860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29148861-29149360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29210321-29210843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29211011-29211600 Neighboring gene ferritin light chain pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29227603-29228102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29240656-29241156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29246587-29247088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247089-29247588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29247601-29248114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283117-29283618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29283619-29284118 Neighboring gene MPRA-validated peak2281 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:29307813-29308019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356146-29356657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29356658-29357170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29379537-29380038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29407365-29408165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29424556-29425172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:29432077-29432890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454119-29454628 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:29454629-29455137 Neighboring gene endosomal transmembrane epsin interactor 2 Neighboring gene DDB1 and CUL4 associated factor 6 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561321-29561822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:29561823-29562322 Neighboring gene NSE3 homolog, SMC5-SMC6 complex component

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mint2/X11-like colocalizes with the Alzheimer's disease amyloid precursor protein and is associated with neuritic plaques in Alzheimer's disease. McLoughlin DM, et al. Eur J Neurosci, 1999 Jun. PMID 10336668
    2. Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures. Sutcliffe JS, et al. BMC Genomics, 2003 Apr 29. PMID 12720574, Free PMC Article
    3. The X11 proteins, Abeta production and Alzheimer's disease. Miller CC, et al. Trends Neurosci, 2006 May. PMID 16545469
    4. Phosphorylation of the amino-terminal region of X11L regulates its interaction with APP. Sakuma M, et al. J Neurochem, 2009 Apr. PMID 19222704, Free PMC Article
    5. Exploratory locomotion, a predictor of addiction vulnerability, is oligogenic in rats selected for this phenotype. Zhou Z, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182603, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
      Title: A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function.
    2. Using exome sequencing and QTL analysis, study identified seven genome-wide significant loci accounting for approximately one-third of total variance and two-thirds of genetic variance in exploratory locomotion (EL), a behavioral phenotype correlated with vulnerability to addiction, and found convergent evidence for a role of APBA2 in humans.
      Title: Exploratory locomotion, a predictor of addiction vulnerability, is oligogenic in rats selected for this phenotype.
    3. These results support the hypothesis that APBA2 gene expression in different areas of Alzheimer's patient's brains.
      Title: Change in INSR, APBA2 and IDE Gene Expressions in Brains of Alzheimer's Disease Patients.
    4. Mints are necessary for activity-induced APP and PS1 trafficking and provide insight into the cellular fate of APP in endocytic pathways essential for Abeta production.
      Title: Mint proteins are required for synaptic activity-dependent amyloid precursor protein (APP) trafficking and amyloid β generation.
    5. Aberrant MINT2 methylation in body fluids may predict peritoneal micrometastasis for gastric cancer (GC) patients, which is a potential poor prognostic factor in GC.
      Title: Circulating methylated MINT2 promoter DNA is a potential poor prognostic factor in gastric cancer.
    6. a significant difference was shown for APBA2 gene expression of peripheral lymphocytes between Chinese Han Tourette syndrome (TS) group and healthy controls idicating the APBA2 gene is a promising peripheral blood biomarker that discriminates between patients with TS and healthy subjects
      Title: Gene expression changes in peripheral blood from Chinese Han patients with Tourette syndrome.
    7. Amyloid beta A4 precursor protein-binding family A member 2 contains a potent neuronal promoter whose activity may be regulated by DNA methylation and glucocorticoid receptor [alpha], paired box protein 5.
      Title: Promoter characterization and genomic organization of the human X11β gene APBA2.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. The co-occurrence of two nonsynonymous mutations in both affected siblings in a single family, each transmitted from a different unaffected parent, suggest a role for APBA2 mutations in rare individuals with ASD.
      Title: Copy number and sequence variants implicate APBA2 as an autism candidate gene.
    10. APBA2 were genes activated in early endometrial endometrioid carcinoma (stages I-II).
      Title: Increased epithelial stem cell traits in advanced endometrial endometrioid carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    EBI GWAS Catalog
    Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99508

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    amyloid-beta A4 precursor protein-binding family A member 2
    Names
    X11-like protein
    adapter protein X11beta
    amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)
    mint-2
    neuron-specific X11L protein
    neuronal munc18-1-interacting protein 2
    phosphotyrosine-binding/-interacting domain (PTB)-bearing protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130414.1 → NP_001123886.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

      See identical proteins and their annotated locations for NP_001123886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
      Consensus CDS
      CCDS45197.1
      UniProtKB/TrEMBL
      Q59G28
      Related
      ENSP00000409312.1, ENST00000411764.5
      Conserved Domains (3) summary
      cd00992
      Location:645 → 718
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 523
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:556 → 639
      PDZ; PDZ domain (Also known as DHR or GLGF)

    2. NM_001353788.2 → NP_001340717.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AC174469, AF047348
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Related
      ENSP00000507394.1, ENST00000683413.1
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    3. NM_001353789.2 → NP_001340718.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AC174469, AF047348
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    4. NM_001353790.2 → NP_001340719.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AC174469, AF047348
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    5. NM_001353791.2 → NP_001340720.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AF047348
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    6. NM_001353792.2 → NP_001340721.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AC174469, AF047348
      Consensus CDS
      CCDS45197.1
      UniProtKB/TrEMBL
      Q59G28
      Related
      ENSP00000452722.1, ENST00000558330.5
      Conserved Domains (3) summary
      cd00992
      Location:645 → 718
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 523
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:556 → 639
      PDZ; PDZ domain (Also known as DHR or GLGF)

    7. NM_001353793.2 → NP_001340722.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AF047348
      Consensus CDS
      CCDS45197.1
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:645 → 718
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 523
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:556 → 639
      PDZ; PDZ domain (Also known as DHR or GLGF)

    8. NM_001353794.2 → NP_001340723.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AF047348
      Consensus CDS
      CCDS45197.1
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:645 → 718
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 523
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:556 → 639
      PDZ; PDZ domain (Also known as DHR or GLGF)

    9. NM_001353795.2 → NP_001340724.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform c

      Status: REVIEWED

      Source sequence(s)
      AA861797, AC024474, AC127522, AC174469
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (2) summary
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    10. NM_001353796.2 → NP_001340725.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AF047348
      Conserved Domains (3) summary
      cd00992
      Location:361 → 434
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:67 → 239
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:272 → 355
      PDZ; PDZ domain (Also known as DHR or GLGF)

    11. NM_001353797.2 → NP_001340726.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AF047348
      Conserved Domains (3) summary
      cd00992
      Location:349 → 422
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:67 → 227
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:260 → 343
      PDZ; PDZ domain (Also known as DHR or GLGF)

    12. NM_001379685.1 → NP_001366614.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AC024474, AC127522, AC174469
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Related
      ENSP00000453293.1, ENST00000558402.5
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    13. NM_005503.3 → NP_005494.2  amyloid-beta A4 precursor protein-binding family A member 2 isoform a

      See identical proteins and their annotated locations for NP_005494.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB014719, AB209281, AC024474, AK310413, BC082986, BM665057, BX332225
      Consensus CDS
      CCDS10022.1
      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Related
      ENSP00000454171.1, ENST00000558259.5
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      28885974..29118315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432424.1 → XP_047288380.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    2. XM_011521489.3 → XP_011519791.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011519791.1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    3. XM_047432416.1 → XP_047288372.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    4. XM_047432409.1 → XP_047288365.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    5. XM_047432420.1 → XP_047288376.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    6. XM_011521490.3 → XP_011519792.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011519792.1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    7. XM_047432425.1 → XP_047288381.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    8. XM_024449909.2 → XP_024305677.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (2) summary
      cd01208
      Location:363 → 525
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:651 → 722
      PDZ; PDZ domain (Also known as DHR or GLGF)

    9. XM_047432417.1 → XP_047288373.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    10. XM_047432411.1 → XP_047288367.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    11. XM_047432426.1 → XP_047288382.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

    12. XM_047432412.1 → XP_047288368.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    13. XM_047432413.1 → XP_047288369.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    14. XM_047432410.1 → XP_047288366.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    15. XM_047432415.1 → XP_047288371.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    16. XM_047432419.1 → XP_047288375.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    17. XM_011521488.4 → XP_011519790.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011519790.1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    18. XM_047432414.1 → XP_047288370.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    19. XM_047432421.1 → XP_047288377.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    20. XM_047432418.1 → XP_047288374.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    21. XM_047432422.1 → XP_047288378.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    22. XM_011521492.3 → XP_011519794.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011519794.1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    23. XM_047432423.1 → XP_047288379.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    24. XM_017022112.3 → XP_016877601.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    25. XM_011521491.2 → XP_011519793.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      See identical proteins and their annotated locations for XP_011519793.1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767
      UniProtKB/TrEMBL
      Q59G28
      Conserved Domains (3) summary
      cd00992
      Location:657 → 730
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd01208
      Location:363 → 535
      PTB_X11; X11-like Phosphotyrosine-binding (PTB) domain
      pfam00595
      Location:568 → 651
      PDZ; PDZ domain (Also known as DHR or GLGF)

    26. XM_047432427.1 → XP_047288383.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p14 PATCHES

      Range
      1047956..1280878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331784.1 → XP_054187759.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    2. XM_054331766.1 → XP_054187741.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    3. XM_054331780.1 → XP_054187755.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    4. XM_054331773.1 → XP_054187748.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    5. XM_054331776.1 → XP_054187751.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    6. XM_054331762.1 → XP_054187737.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    7. XM_054331781.1 → XP_054187756.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    8. XM_054331764.1 → XP_054187739.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    9. XM_054331785.1 → XP_054187760.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    10. XM_054331778.1 → XP_054187753.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    11. XM_054331787.1 → XP_054187762.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    12. XM_054331771.1 → XP_054187746.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    13. XM_054331783.1 → XP_054187758.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    14. XM_054331794.1 → XP_054187769.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

    15. XM_054331779.1 → XP_054187754.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    16. XM_054331774.1 → XP_054187749.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    17. XM_054331782.1 → XP_054187757.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    18. XM_054331763.1 → XP_054187738.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    19. XM_054331761.1 → XP_054187736.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    20. XM_054331775.1 → XP_054187750.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    21. XM_054331791.1 → XP_054187766.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    22. XM_054331790.1 → XP_054187765.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    23. XM_054331765.1 → XP_054187740.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    24. XM_054331792.1 → XP_054187767.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    25. XM_054331793.1 → XP_054187768.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    26. XM_054331770.1 → XP_054187745.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    27. XM_054331767.1 → XP_054187742.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    28. XM_054331789.1 → XP_054187764.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    29. XM_054331777.1 → XP_054187752.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    30. XM_054331772.1 → XP_054187747.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    31. XM_054331786.1 → XP_054187761.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    32. XM_054331769.1 → XP_054187744.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    33. XM_054331788.1 → XP_054187763.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    34. XM_054331768.1 → XP_054187743.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    35. XM_054331795.1 → XP_054187770.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1196581..1393362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      26662979..26895835
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377790.1 → XP_054233765.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    2. XM_054377769.1 → XP_054233744.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    3. XM_054377785.1 → XP_054233760.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    4. XM_054377776.1 → XP_054233751.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    5. XM_054377781.1 → XP_054233756.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    6. XM_054377765.1 → XP_054233740.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    7. XM_054377787.1 → XP_054233762.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    8. XM_054377767.1 → XP_054233742.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    9. XM_054377792.1 → XP_054233767.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    10. XM_054377779.1 → XP_054233754.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    11. XM_054377783.1 → XP_054233758.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    12. XM_054377794.1 → XP_054233769.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    13. XM_054377774.1 → XP_054233749.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    14. XM_054377789.1 → XP_054233764.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    15. XM_054377800.1 → XP_054233775.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X4

    16. XM_054377786.1 → XP_054233761.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    17. XM_054377778.1 → XP_054233753.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    18. XM_054377788.1 → XP_054233763.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    19. XM_054377766.1 → XP_054233741.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    20. XM_054377764.1 → XP_054233739.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    21. XM_054377780.1 → XP_054233755.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    22. XM_054377797.1 → XP_054233772.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    23. XM_054377796.1 → XP_054233771.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    24. XM_054377768.1 → XP_054233743.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    25. XM_054377798.1 → XP_054233773.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    26. XM_054377799.1 → XP_054233774.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    27. XM_054377777.1 → XP_054233752.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    28. XM_054377773.1 → XP_054233748.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    29. XM_054377770.1 → XP_054233745.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    30. XM_054377784.1 → XP_054233759.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    31. XM_054377791.1 → XP_054233766.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    32. XM_054377782.1 → XP_054233757.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X2

    33. XM_054377775.1 → XP_054233750.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    34. XM_054377793.1 → XP_054233768.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    35. XM_054377772.1 → XP_054233747.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    36. XM_054377795.1 → XP_054233770.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X3

    37. XM_054377771.1 → XP_054233746.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PGI4, O60571, Q5XKC0, Q99767

    38. XM_054377801.1 → XP_054233776.1  amyloid-beta A4 precursor protein-binding family A member 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99767.3 GenPept UniProtKB/Swiss-Prot:Q99767

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