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

Gene ID: 1284, updated on 13-Mar-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
109.20200228 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.

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)
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