KCNK9

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Description

Potassium two pore domain channel subfamily K member 9

Tissue specificity

Tissue enriched (brain)

Subcell location

Plasma membrane

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

8 (139600838 - 139704109)

Ensembl ID

ENSG00000169427  (ver. 103.38)

Orthologs

Mouse Kcnk9: ENSMUSG00000036760

UniProt

Q9NPC2

neXtProt

NX_Q9NPC2

Human splice variants
Mouse splice variants

Protein structure