Format

Send to:

Choose Destination
    • Showing Current items.

    COL4A2 collagen type IV alpha 2 chain [ Homo sapiens (human) ]

    Gene ID: 1284, updated on 27-Jan-2020

    Summary

    Official Symbol
    COL4A2provided by HGNC
    Official Full Name
    collagen type IV alpha 2 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2203
    See related
    Ensembl:ENSG00000134871 MIM:120090
    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
    ICH; BSVD2; POREN2
    Summary
    This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 373.6), fat (RPKM 158.9) and 13 other tissues See more
    Orthologs

    Genomic context

    See COL4A2 in Genome Data Viewer
    Location:
    13q34
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (110307284..110513209)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (110959631..111165374)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927712 Neighboring gene collagen type IV alpha 1 chain Neighboring gene microRNA 8073 Neighboring gene COL4A2 antisense 2 Neighboring gene COL4A2 antisense RNA 1 Neighboring gene RAB20, member RAS oncogene family Neighboring gene NAD(P)HX dehydratase

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Associated conditions

    Description Tests
    Hemorrhage, intracerebral, susceptibility to
    MedGen: C3281105 OMIM: 614519 GeneReviews: Not available
    Compare labs
    Porencephaly 2
    MedGen: C3280970 OMIM: 614483 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
    NHGRI GWA Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis PubMed
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22259, DKFZp686I14213

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    collagen-activated tyrosine kinase receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    collagen alpha-2(IV) chain
    Names
    canstatin

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_032137.1 RefSeqGene

      Range
      4984..210926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001846.4NP_001837.2  collagen alpha-2(IV) chain preproprotein

      See identical proteins and their annotated locations for NP_001837.2

      Status: REVIEWED

      Source sequence(s)
      AL139385, AL159153, AL161773
      Consensus CDS
      CCDS41907.1
      UniProtKB/Swiss-Prot
      P08572
      UniProtKB/TrEMBL
      A0A024RDW8
      Related
      ENSP00000353654.5, ENST00000360467.7
      Conserved Domains (2) summary
      pfam01391
      Location:791849
      Collagen; Collagen triple helix repeat (20 copies)
      pfam01413
      Location:15981709
      C4; C-terminal tandem repeated domain in type 4 procollagen

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      110307284..110513209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center