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
Species	Bod dynol	Llygoden
Entrez	1184	n/a
Ensembl	ENSG00000171365	n/a
UniProt	P51795	n/a
RefSeq (mRNA)	NM_000084 NM_001127898 NM_001127899 NM_001272102 NM_001282163	n/a
RefSeq (protein)	NP_000075 NP_001121370 NP_001121371 NP_001259031 NP_001269092	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 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.

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.