GENETIC ENCYCLOPEDIA
ABOUT US    

   

gene: COL4A2

id1284
symbolCOL4A2
organismHomo sapiens
full namecollagen type IV alpha 2 chain
summaryThis 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]
variant-disease

NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) AND Hemorrhage, intracerebral, susceptibility to

NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) AND Porencephalic cyst

NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) AND Porencephalic cyst

NM_001846.4(COL4A2):c.549+5G>A AND Porencephalic cyst

NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) AND Porencephalic cyst

... 322 more


Partner site browser screen capture on site-shot.com.