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]

Full Name

Potassium Two Pore Domain Channel Subfamily K Member 9

Function

pH-dependent, voltage-insensitive, background potassium channel protein.

Biological Process

Potassium ion import across plasma membraneManual Assertion Based On ExperimentIDA:MGI
Potassium ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central
Potassium ion transport1 PublicationNAS:UniProtKB
Stabilization of membrane potentialManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane

Involvement in disease

Birk-Barel syndrome (BIBARS):
A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting.

Topology

Cytoplasmic: 1-8
Helical: 9-29
Extracellular: 30-88
Pore-forming: 89-101
Extracellular: 102-107
Helical: 108-128
Cytoplasmic: 129-158
Helical: 159-179
Extracellular: 180-194
Pore-forming: 195-207
Extracellular: 208-218
Helical: 219-239
Cytoplasmic: 240-374