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

Gene ID: 1284, updated on 8-May-2016
Official Symbol
COL4A2provided by HGNC
Official Full Name
collagen type IV alpha 2provided by HGNC
Primary source
HGNC:HGNC:2203
See related
Ensembl:ENSG00000134871 HPRD:00355; MIM:120090; Vega:OTTHUMG00000017344
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; 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]
Orthologs
Location:
13q34
Exon count:
48
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (110307284..110513027)
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 Neighboring gene uncharacterized LOC102724442 Neighboring gene microRNA 8073 Neighboring gene COL4A2 antisense RNA 2 Neighboring gene COL4A2 antisense RNA 1 Neighboring gene RAB20, member RAS oncogene family Neighboring gene NAD(P)HX dehydratase

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hemorrhage, intracerebral, susceptibility to
MedGen: C0019191 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

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

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22259, DKFZp686I14213

Gene Ontology Provided by GOA

Function Evidence Code Pubs
extracellular matrix structural constituent TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
collagen catabolic process TAS
Traceable Author Statement
more info
 
endodermal cell differentiation IEP
Inferred from Expression Pattern
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 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
collagen type IV trimer TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
colocalizes_with extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
Preferred Names
collagen alpha-2(IV) chain
Names
canstatin
collagen, type IV, alpha 2

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
    5001..210744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001846.2NP_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, BX648393, BY795218, CB045156, CB148713, CK000715, CN397790, CN397808, CN397819, M24766, X05562
    Consensus CDS
    CCDS41907.1
    UniProtKB/Swiss-Prot
    P08572
    UniProtKB/TrEMBL
    A0A024RDW8
    Related
    ENSP00000353654, OTTHUMP00000018700, ENST00000360467, OTTHUMT00000045761
    Conserved Domains (2) summary
    pfam01413
    Location:14891596
    C4; C-terminal tandem repeated domain in type 4 procollagen
    pfam01391
    Location:791849
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    110307284..110513027
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    110928062..111133226
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)