ACTN2

ACTN2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1H8B, 1HCI, 1QUU, 4D1E, 5A37, 5A36, 5A38, 5A4B
Dynodwyr
Cyfenwau	ACTN2, CMD1AA, CMH23, actinin alpha 2, MYOCOZ, MPD6
Dynodwyr allanol	OMIM: 102573 HomoloGene: 31016 GeneCards: ACTN2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • protein dimerization activity • protein homodimerization activity • transmembrane transporter binding • protein domain specific binding • titin Z domain binding • LIM domain binding • titin binding • metal ion binding • cytoskeletal protein binding • integrin binding • actin filament binding • GO:0001948, GO:0016582 protein binding • nuclear receptor coactivator activity • identical protein binding • FATZ binding • actin binding • phosphatidylinositol-4,5-bisphosphate binding • structural constituent of muscle Cydrannau o'r gell • cytoplasm • cytosol • pseudopodium • focal adhesion • filopodium • Cellbilen • sarcomere • dendritic spine • extracellular region • Z discdkac • cortical actin cytoskeleton • Microffilament • extracellular exosome • Cytosgerbwd • platelet alpha granule lumen • postsynaptic density membrane • glutamatergic synapse • postsynaptic density, intracellular component Prosesau biolegol • positive regulation of cation channel activity • regulation of apoptotic process • muscle contraction • positive regulation of potassium ion transport • phospholipase C-activating angiotensin-activated signaling pathway • cardiac muscle cell development • regulation of membrane potential • platelet degranulation • actin filament uncapping • MAPK cascade • focal adhesion assembly • negative regulation of protein localization to cell surface • positive regulation of signaling receptor activity • cell adhesion • negative regulation of potassium ion transmembrane transporter activity • negative regulation of potassium ion transport • regulation of nucleic acid-templated transcription • microspike assembly • positive regulation of endocytic recycling • muscle filament sliding • protein homotetramerization • sarcomere organization • positive regulation of potassium ion transmembrane transporter activity • protein localization to plasma membrane • positive regulation of nucleic acid-templated transcription • regulation of NMDA receptor activity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	88	n/a
Ensembl	ENSG00000077522	n/a
UniProt	P35609	n/a
RefSeq (mRNA)	NM_001103 NM_001278343 NM_001278344	n/a
RefSeq (protein)	NP_001094 NP_001265272 NP_001265273	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 ACTN2 yw ACTN2 a elwir hefyd yn Actinin alpha 2 (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 1, band 1q43.

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 ACTN2.

• CMH23
• CMD1AA

Llyfryddiaeth

• "Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation. ". Biochem J. 2016. PMID 27287556.
• "Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. ". BMC Med Genet. 2014. PMID 25224718.
• "Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. ". Circ Cardiovasc Genet. 2014. PMID 25173926.
• "Genetic Association of MPPED2 and ACTN2 with Dental Caries. ". J Dent Res. 2014. PMID 24810274.
• "Genome sequences and phylogenetic analysis of K88- and F18-positive porcine enterotoxigenic Escherichia coli.". J Bacteriol. 2012. PMID 22081385.