Gene: COL4A2-AS1
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: COL4A2
Alternate names for this Gene: BSVD2|ICH|POREN2
Gene 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.
Gene is located in Chromosome: 13
Location in Chromosome : 13q34
Description of this Gene: collagen type IV alpha 2 chain
Type of Gene: protein-coding
rs797044947 in
COL4A2-AS1;COL4A2 gene and
Muscle hypotonia
PMID 24001601 2014 Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
PMID 26708157 2016 A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
PMID 25719457 2015 The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.
PMID 22209247 2012 COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
PMID 22209246 2012 De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
PMID 24390199 2014 COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy.
rs797044947 in
COL4A2-AS1;COL4A2 gene and
PORENCEPHALY 2
PMID 22333902 2012 COL4A2 mutation associated with familial porencephaly and small-vessel disease.