CACNB2

CACNB2
Dynodwyr
Cyfenwau	CACNB2, CACNLB2, CAVB2, MYSB, calcium voltage-gated channel auxiliary subunit beta 2, CAB2
Dynodwyr allanol	OMIM: 600003 HomoloGene: 75191 GeneCards: CACNB2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium channel activity • voltage-gated ion channel activity • high voltage-gated calcium channel activity • GO:0001948, GO:0016582 protein binding • voltage-gated calcium channel activity involved in AV node cell action potential • voltage-gated calcium channel activity • voltage-gated calcium channel activity involved in cardiac muscle cell action potential • actin filament binding • voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels Cydrannau o'r gell • L-type voltage-gated calcium channel complex • bilen • Cellbilen • integral component of plasma membrane • sarcolemma • voltage-gated calcium channel complex • photoreceptor ribbon synapse • presynapse Prosesau biolegol • regulation of voltage-gated calcium channel activity • calcium ion import • regulation of ion transmembrane transport • cludo ïon • neuromuscular junction development • calcium ion transmembrane transport • calcium ion transport • golwg • positive regulation of calcium ion transport • chemical synaptic transmission • positive regulation of high voltage-gated calcium channel activity • regulation of heart rate by cardiac conduction • membrane depolarization during atrial cardiac muscle cell action potential • membrane depolarization during AV node cell action potential • positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel • protein localization to plasma membrane • positive regulation of presynaptic cytosolic calcium concentration • induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration • cardiac conduction Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	783	n/a
Ensembl	ENSG00000165995	n/a
UniProt	Q08289	n/a
RefSeq (mRNA)	NM_000724 NM_001167945 NM_201570 NM_201571 NM_201572 NM_201590 NM_201593 NM_201596 NM_201597 NM_001330060	n/a
RefSeq (protein)	NP_000715 NP_001161417 NP_001316989 NP_963864 NP_963865 NP_963866 NP_963884 NP_963887 NP_963890 NP_963891	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 CACNB2 yw CACNB2 a elwir hefyd yn Calcium voltage-gated channel auxiliary subunit beta 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 10, band 10p12.33-p12.31.

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 CACNB2.

• MYSB
• CAVB2
• CACNLB2

Llyfryddiaeth

• "Palmitoylation of Ca2+ channel subunit CaVβ2a induces pancreatic beta-cell toxicity via Ca2+ overload. ". Biochem Biophys Res Commun. 2017. PMID 28739256.
• "CACNB2: An Emerging Pharmacological Target for Hypertension, Heart Failure, Arrhythmia and Mental Disorders. ". Curr Mol Pharmacol. 2015. PMID 25966706.
• "Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function. ". PLoS One. 2014. PMID 24752249.
• "Genetic variation in the beta2 subunit of the voltage-gated calcium channel and pharmacogenetic association with adverse cardiovascular outcomes in the INternational VErapamil SR-Trandolapril STudy GENEtic Substudy (INVEST-GENES). ". Circ Cardiovasc Genet. 2010. PMID 21156931.
• "Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.". J Mol Cell Cardiol. 2009. PMID 19358333.