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
	1193
	n/a
	ENSG00000155962
	n/a
	O15247
	n/a
	NM_001289
	n/a
	NP_001280
	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.^[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 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] CLIC2 - Cronfa NCBI

[1]

[2]