Collagen, Type IV, Alpha-2

Alternative Names

  • COL4A2
  • Collagen Of Basement Membrane, Alpha-2 Chain
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OMIM Number

120090

NCBI Gene ID

1284

Uniprot ID

P08572

Length

205,926 bases

No. of Exons

48

No. of isoforms

1

Protein Name

Collagen alpha-2(IV) chain

Molecular Mass

167553 Da

Amino Acid Count

1712

Genomic Location

chr13:110,307,283-110,513,208

Gene Map Locus
13q34

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001846.2:c.181-27458T>CUnited Arab EmiratesNC_000013.11:g.110397276T>CBenignAssociationCoronary Artery Disease, Autosomal Dominant, 1NG_032137.1:g.94993T>C; NM_001846.2:c.181-27458T>C; NP_001837.2:p.?95152031164920
NM_001846.2:c.99+473=United Arab EmiratesNC_000013.11:g.110308596=AssociationCoronary Artery Disease, Autosomal Dominant, 1NG_032137.1:g.6313=; NM_001846.2:c.99+473=; NP_001837.2:p.?3809346
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