Gene: KCNK9

Alternate names for this Gene: K2p9.1|KT3.2|TASK-3|TASK3

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: potassium two pore domain channel subfamily K member 9

Type of Gene: protein-coding

rs1469039 in KCNK9 gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908332 in KCNK9 gene and Birk-Barel Mental Retardation Dysmorphism Syndrome PMID 18678320 2008 Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

rs2014712 in KCNK9 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.