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    AMIGO2 adhesion molecule with Ig like domain 2 [ Homo sapiens (human) ]

    Gene ID: 347902, updated on 14-Nov-2024

    Summary

    Official Symbol
    AMIGO2provided by HGNC
    Official Full Name
    adhesion molecule with Ig like domain 2provided by HGNC
    Primary source
    HGNC:HGNC:24073
    See related
    Ensembl:ENSG00000139211 MIM:615690; AllianceGenome:HGNC:24073
    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
    ALI1; DEGA; AMIGO-2
    Summary
    Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and negative regulation of programmed cell death. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be active in membrane. Biomarker of gastric adenocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in gall bladder (RPKM 9.4), urinary bladder (RPKM 8.8) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See AMIGO2 in Genome Data Viewer
    Location:
    12q13.11
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47075707..47079959, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47036477..47040734, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (47469490..47473742, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902925 Neighboring gene uncharacterized LOC107984466 Neighboring gene PC-esterase domain containing 1B Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28818 Neighboring gene IFITM3P pseudogene 6 Neighboring gene microRNA 4698

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of programmed cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    amphoterin-induced protein 2
    Names
    alivin 1
    amphoterin induced gene 2
    differentially expressed in gastric adenocarcinoma
    differentially expressed in gastric adenocarcinomas
    transmembrane protein AMIGO2

    NCBI Reference Sequences (RefSeq)

    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_001143668.1NP_001137140.1  amphoterin-induced protein 2 precursor

      See identical proteins and their annotated locations for NP_001137140.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an alternate exon in the 5' UTR. The same protein is encoded by transcript variants 1-3.
      Source sequence(s)
      AB079074, AC004010, BC047595, BC095477
      Consensus CDS
      CCDS8751.1
      UniProtKB/Swiss-Prot
      Q4VBP6, Q7Z4A0, Q86SJ2, Q96CN8
      UniProtKB/TrEMBL
      B3KRK1
      Related
      ENSP00000406020.1, ENST00000429635.1
      Conserved Domains (5) summary
      smart00410
      Location:298380
      IG_like; Immunoglobulin like
      COG4886
      Location:54240
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:94175
      LRR_8; Leucine rich repeat
      cl15307
      Location:228283
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
    2. NM_001370299.1NP_001357228.1  amphoterin-induced protein 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC004010
      Consensus CDS
      CCDS8751.1
      UniProtKB/Swiss-Prot
      Q4VBP6, Q7Z4A0, Q86SJ2, Q96CN8
      UniProtKB/TrEMBL
      B3KRK1
      Related
      ENSP00000449034.1, ENST00000550413.2
      Conserved Domains (5) summary
      smart00410
      Location:298380
      IG_like; Immunoglobulin like
      COG4886
      Location:54240
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:94175
      LRR_8; Leucine rich repeat
      cl15307
      Location:228283
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
    3. NM_181847.4NP_862830.1  amphoterin-induced protein 2 precursor

      See identical proteins and their annotated locations for NP_862830.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) omits an alternate exon from the 5' UTR. The same protein is encoded by transcript variants 1-3.
      Source sequence(s)
      AB079074, AC004010, AY454159, BC095477, CN397638
      Consensus CDS
      CCDS8751.1
      UniProtKB/Swiss-Prot
      Q4VBP6, Q7Z4A0, Q86SJ2, Q96CN8
      UniProtKB/TrEMBL
      B3KRK1
      Related
      ENSP00000266581.4, ENST00000266581.4
      Conserved Domains (5) summary
      smart00410
      Location:298380
      IG_like; Immunoglobulin like
      COG4886
      Location:54240
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00033
      Location:5172
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:94175
      LRR_8; Leucine rich repeat
      cl15307
      Location:228283
      TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      47075707..47079959 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428785.1XP_047284741.1  amphoterin-induced protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q4VBP6, Q7Z4A0, Q86SJ2, Q96CN8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      47036477..47040734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)