CLIC2

CLIC2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2PER, 2R4V, 2R5G
Dynodwyr
Cyfenwau	CLIC2, CLIC2b, MRXS32, XAP121, chloride intracellular channel 2, CLCNL2
Dynodwyr allanol	OMIM: 300138 HomoloGene: 48010 GeneCards: CLIC2
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • glutathione transferase activity • voltage-gated ion channel activity • glutathione peroxidase activity • GO:0001948, GO:0016582 protein binding • chloride channel activity Cydrannau o'r gell • cytoplasm • integral component of membrane • bilen • intracellular anatomical structure • chloride channel complex • cnewyllyn cell Prosesau biolegol • regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion • regulation of ion transmembrane transport • cludo ïon • negative regulation of ryanodine-sensitive calcium-release channel activity • positive regulation of binding • chloride transport • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • GO:0072468 signal transduction • cellular oxidant detoxification • glutathione metabolic process • chloride transmembrane transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1193	n/a
Ensembl	ENSG00000155962	n/a
UniProt	O15247	n/a
RefSeq (mRNA)	NM_001289	n/a
RefSeq (protein)	NP_001280	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 CLIC2 yw CLIC2 a elwir hefyd yn Chloride intracellular channel 2 (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 X dynol, band Xq28.

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 CLIC2.

• CLIC2b
• MRXS32
• XAP121

Llyfryddiaeth

• "An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. ". Hum Mol Genet. 2012. PMID 22814392.
• "A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. ". Proteins. 2011. PMID 21630357.
• "Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. ". Invest Ophthalmol Vis Sci. 2011. PMID 21357393.
• "The crystal structure of human chloride intracellular channel protein 2: a disulfide bond with functional implications. ". Proteins. 2008. PMID 18186468.
• "Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).". Acta Crystallogr Sect F Struct Biol Cryst Commun. 2007. PMID 18007051.