CLCN5

CLCN5
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2J9L, 2JA3
Dynodwyr
Cyfenwau	CLCN5, CLC5, CLCK2, ClC-5, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2, chloride voltage-gated channel 5, DENT1
Dynodwyr allanol	OMIM: 300008 HomoloGene: 73872 GeneCards: CLCN5
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• nucleotide binding; • ion channel activity; • ATP binding; • chloride channel activity; • antiporter activity; • voltage-gated chloride channel activity; • identical protein binding; • GO:0001948, GO:0016582 protein binding; • solute:proton antiporter activity; • chloride ion binding;
Cydrannau o'r gell	• integral component of membrane; • bilen; • Golgi membrane; • apical part of cell; • integral component of plasma membrane; • lysosomal membrane; • endosome membrane; • endosome; • Golgi apparatus; • cytosol; • Cellbilen; • early endosome;
Prosesau biolegol	• Ysgarthu; • cludo ïon; • cludo transmembrane rhwng ïonau; • regulation of anion transmembrane transport; • chloride transport; • chloride transmembrane transport; • transmembrane transport; • GO:0015915 transport; • proton transmembrane transport;
	Sources:Amigo / QuickGO
Orthologau
	1184
	n/a
	ENSG00000171365
	n/a
	P51795
	n/a
	NM_000084; NM_001127898; NM_001127899; NM_001272102; NM_001282163
	n/a
	NP_000075; NP_001121370; NP_001121371; NP_001259031; NP_001269092
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn CLCN5 yw CLCN5 a elwir hefyd yn Chloride voltage-gated channel 5 (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 X dynol, band Xp11.23.^[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 CLCN5.

XRN
CLC5
XLRH
CLCK2
ClC-5
DENTS
NPHL1
NPHL2
hCIC-K2

Llyfryddiaeth

"Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations. ". DNA Cell Biol. 2017. PMID 29058463.
"Overexpression of the Endosomal Anion/Proton Exchanger ClC-5 Increases Cell Susceptibility toward Clostridium difficileToxins TcdA and TcdB. ". Front Cell Infect Microbiol. 2017. PMID 28348980.
"Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients. ". Physiol Rep. 2016. PMID 27117801.
"Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. ". Hum Mutat. 2015. PMID 25907713.
"A novel CLCN5 mutation in a Chinese boy with Dent's disease.". World J Pediatr. 2014. PMID 25124980.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] CLCN5 - Cronfa NCBI

[1]

[2]