KCNQ4

KCNQ4
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2OVC, 4GOW
Dynodwyr
Cyfenwau	KCNQ4, DFNA2, DFNA2A, KV7.4, potassium voltage-gated channel subfamily Q member 4
Dynodwyr allanol	OMIM: 603537 HomoloGene: 78107 GeneCards: KCNQ4
Patrwm RNA pattern
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• potassium channel activity; • voltage-gated ion channel activity; • ion channel activity; • GO:0001948, GO:0016582 protein binding; • voltage-gated potassium channel activity; • delayed rectifier potassium channel activity; • calmodulin binding;
Cydrannau o'r gell	• integral component of membrane; • bilen; • voltage-gated potassium channel complex; • Cellbilen; • basal plasma membrane;
Prosesau biolegol	• regulation of ion transmembrane transport; • cludo ïon; • clyw; • potassium ion transport; • transmembrane transport; • potassium ion transmembrane transport; • inner ear morphogenesis;
	Sources:Amigo / QuickGO
Orthologau
	9132
	n/a
	ENSG00000117013
	n/a
	P56696
	n/a
	NM_004700; NM_172163
	n/a
	NP_004691; NP_751895
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn KCNQ4 yw KCNQ4 a elwir hefyd yn Potassium voltage-gated channel subfamily Q member 4 (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 1, band 1p34.2.^[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 KCNQ4.

DFNA2
KV7.4
DFNA2A

Llyfryddiaeth

"KV7 channels in the human detrusor: channel modulator effects and gene and protein expression. ". Naunyn Schmiedebergs Arch Pharmacol. 2017. PMID 27761601.
"Expression and function of Kv7.4 channels in rat cardiac mitochondria: possible targets for cardioprotection. ". Cardiovasc Res. 2016. PMID 26718475.
"Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India. ". Int J Pediatr Otorhinolaryngol. 2017. PMID 28802383.
"A novel pore-region mutation, c.887Gâ€‰>â€‰A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2. ". BMC Med Genet. 2017. PMID 28340560.
"Synergistic interplay of GβÎ³ and phosphatidylinositol 4,5-bisphosphate dictates Kv7.4 channel activity.". Pflugers Arch. 2017. PMID 27981364.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] KCNQ4 - Cronfa NCBI

[1]

[2]