COL4A2

COL4A2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1LI1
Dynodwyr
Cyfenwau	COL4A2, ICH, POREN2, collagen type IV alpha 2, collagen type IV alpha 2 chain, BSVD2
Dynodwyr allanol	OMIM: 120090 HomoloGene: 1390 GeneCards: COL4A2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • extracellular matrix structural constituent • GO:0001948, GO:0016582 protein binding • extracellular matrix structural constituent conferring tensile strength Cydrannau o'r gell • GO:0005578 extracellular matrix • extracellular region • basement membrane • collagen • collagen type IV trimer • endoplasmic reticulum lumen • extracellular exosome • extracellular space • collagen-containing extracellular matrix Prosesau biolegol • collagen catabolic process • negative regulation of angiogenesis • cellular response to transforming growth factor beta stimulus • extracellular matrix organization • endodermal cell differentiation • angiogenesis • transcription, DNA-templated • collagen-activated tyrosine kinase receptor signaling pathway • GO:0010260 heneiddio • response to activity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1284	n/a
Ensembl	ENSG00000134871	n/a
UniProt	P08572	n/a
RefSeq (mRNA)	NM_001846	n/a
RefSeq (protein)	NP_001837	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn COL4A2 yw COL4A2 a elwir hefyd yn Collagen type IV alpha 2 chain (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 13, band 13q34.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn COL4A2.

• ICH
• POREN2

Llyfryddiaeth

• "Coronary-Heart-Disease-Associated Genetic Variant at the COL4A1/COL4A2 Locus Affects COL4A1/COL4A2 Expression, Vascular Cell Survival, Atherosclerotic Plaque Stability and Risk of Myocardial Infarction. ". PLoS Genet. 2016. PMID 27389912.
• "Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. ". Neurology. 2015. PMID 25653287.
• "COL4A2 mutation associated with familial porencephaly and small-vessel disease. ". Eur J Hum Genet. 2012. PMID 22333902.
• "De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. ". Am J Hum Genet. 2012. PMID 22209246.
• "The NC1 domain of human collagen IV is necessary to initiate triple helix formation.". Biochem Biophys Res Commun. 2004. PMID 15522229.