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
	783
	n/a
	ENSG00000165995
	n/a
	Q08289
	n/a
NM_000724; NM_001167945; NM_201570; NM_201571; NM_201572;
	NM_201590; NM_201593; NM_201596; NM_201597; NM_001330060
	n/a
NP_000715; NP_001161417; NP_001316989; NP_963864; NP_963865;
	NP_963866; NP_963884; NP_963887; NP_963890; NP_963891
	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.^[2]

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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] CACNB2 - Cronfa NCBI

[1]

[2]