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    C2orf88 chromosome 2 open reading frame 88 [ Homo sapiens (human) ]

    Gene ID: 84281, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C2orf88provided by HGNC
    Official Full Name
    chromosome 2 open reading frame 88provided by HGNC
    Primary source
    HGNC:HGNC:28191
    See related
    Ensembl:ENSG00000187699 MIM:615117; AllianceGenome:HGNC:28191
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    smAKAP
    Summary
    Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 10.9), small intestine (RPKM 9.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C2orf88 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189879562..190203484)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190627278..190693074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (191002503..191068210)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene glucosamine-phosphate N-acetyltransferase 1 pseudogene Neighboring gene uncharacterized LOC105373796 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:190727824-190728081 Neighboring gene PMS1 homolog 1, mismatch repair system component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16858 Neighboring gene heterogeneous nuclear ribonucleoprotein C pseudogene 2 Neighboring gene TERF1 pseudogene 6 Neighboring gene ring finger protein 11 pseudogene 1 Neighboring gene myostatin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:191045543-191046342 Neighboring gene 3-hydroxyisobutyryl-CoA hydrolase Neighboring gene Sharpr-MPRA regulatory region 4599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:191144703-191145674 Neighboring gene serine/arginine repetitive matrix protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16859 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12178 Neighboring gene inositol polyphosphate-1-phosphatase Neighboring gene ReSE screen-validated silencer GRCh37_chr2:191293549-191293748 Neighboring gene major facilitator superfamily domain containing 6 Neighboring gene nuclear envelope integral membrane protein 2

    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. A small novel A-kinase anchoring protein (AKAP) that localizes specifically protein kinase A-regulatory subunit I (PKA-RI) to the plasma membrane. Burgers PP, et al. J Biol Chem, 2012 Dec 21. PMID 23115245, Free PMC Article
    2. Structure of smAKAP and its regulation by PKA-mediated phosphorylation. Burgers PP, et al. FEBS J, 2016 Jun. PMID 27028580, Free PMC Article
    3. Cypher/ZASP is a novel A-kinase anchoring protein. Lin C, et al. J Biol Chem, 2013 Oct 11. PMID 23996002, Free PMC Article
    4. Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Okada Y, et al. Nat Genet, 2012 Feb 19. PMID 22344221, Free PMC Article
    5. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Kapoor M, et al. Drug Alcohol Depend, 2014 Sep 1. PMID 24962325, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    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

    • MGC13057

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A regulatory subunit binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small membrane A-kinase anchor protein
    Names
    small A-kinase anchoring protein
    small membrane AKAP

    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_001042519.2 → NP_001035984.1  small membrane A-kinase anchor protein

      See identical proteins and their annotated locations for NP_001035984.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AC010679, BX648070, DA247977
      Consensus CDS
      CCDS42792.1
      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0
      Related
      ENSP00000345107.4, ENST00000340623.4
      Conserved Domains (1) summary
      pfam15127
      Location:1 → 94
      SmAKAP; Small membrane A-kinase anchor protein

    2. NM_001042520.2 → NP_001035985.1  small membrane A-kinase anchor protein

      See identical proteins and their annotated locations for NP_001035985.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC010679, BX648070, DA389238
      Consensus CDS
      CCDS42792.1
      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0
      Conserved Domains (1) summary
      pfam15127
      Location:1 → 94
      SmAKAP; Small membrane A-kinase anchor protein

    3. NM_001042521.2 → NP_001035986.1  small membrane A-kinase anchor protein

      See identical proteins and their annotated locations for NP_001035986.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC010679, BU567236, BX648070
      Consensus CDS
      CCDS42792.1
      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0
      Related
      ENSP00000380172.2, ENST00000396974.2
      Conserved Domains (1) summary
      pfam15127
      Location:1 → 94
      SmAKAP; Small membrane A-kinase anchor protein

    4. NM_032321.3 → NP_115697.2  small membrane A-kinase anchor protein

      See identical proteins and their annotated locations for NP_115697.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AC010679, BC005083, BX648070
      Consensus CDS
      CCDS42792.1
      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0
      Related
      ENSP00000405225.2, ENST00000443551.2
      Conserved Domains (1) summary
      pfam15127
      Location:1 → 94
      SmAKAP; Small membrane A-kinase anchor protein

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      189879562..190203484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446008.1 → XP_047301964.1  small membrane A-kinase anchor protein isoform X1

      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0

    2. XM_047446009.1 → XP_047301965.1  small membrane A-kinase anchor protein isoform X1

      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0

    3. XM_011511983.2 → XP_011510285.1  small membrane A-kinase anchor protein isoform X1

      See identical proteins and their annotated locations for XP_011510285.1

      UniProtKB/Swiss-Prot
      D3DPI3, P0C876, Q53TC7, Q9BSF0
      Conserved Domains (1) summary
      pfam15127
      Location:1 → 94
      SmAKAP; Small membrane A-kinase anchor protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      190627278..190693074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSF0.2 GenPept UniProtKB/Swiss-Prot:Q9BSF0

    Gene LinkOut

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