ACTA2

ACTA2
Dynodwyr
Cyfenwau	ACTA2, AAT6, ACTSA, MYMY5, actin, alpha 2, smooth muscle, aorta, actin alpha 2, smooth muscle
Dynodwyr allanol	OMIM: 102620 HomoloGene: 133938 GeneCards: ACTA2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • ATP binding • nucleotide binding • protein kinase binding Cydrannau o'r gell • cytosol • cytoplasm • actin cytoskeleton • smooth muscle contractile fiber • cell body • lamellipodium • filopodium • Cytosgerbwd • extracellular exosome • extracellular space • GO:0009327 protein-containing complex Prosesau biolegol • muscle contraction • regulation of blood pressure • vascular associated smooth muscle contraction • mesenchyme migration • GO:1901313 positive regulation of gene expression • glomerular mesangial cell development • response to virus • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	59	n/a
Ensembl	ENSG00000107796	n/a
UniProt	P62736	n/a
RefSeq (mRNA)	NM_001141945 NM_001613 NM_001320855	n/a
RefSeq (protein)	NP_001135417 NP_001307784 NP_001604	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 ACTA2 yw ACTA2 a elwir hefyd yn Actin, aortic smooth muscle ac Actin, alpha 2, smooth muscle, aorta (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 10, band 10q23.31.

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 ACTA2.

• ACTSA

Llyfryddiaeth

• "ACTA2 mutation and postpartum hemorrhage: a case report. ". BMC Med Genet. 2017. PMID 29202781.
• "Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation. ". Can J Cardiol. 2017. PMID 28343608.
• "Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. ". Am J Med Genet A. 2017. PMID 28328125.
• "Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. ". J Biol Chem. 2016. PMID 27551047.
• "Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.". BMC Med Genet. 2016. PMID 27431987.