KCNK9 gene

potassium two pore domain channel subfamily K member 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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 mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

From UniProt:

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

From NCBI Gene:

  • Birk Barel mental retardation dysmorphism syndrome

From UniProt:

Birk-Barel mental retardation dysmorphism syndrome (BIBAS): A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. [MIM:612292]

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3

Molecular Location: base pairs 139,600,838 to 139,703,135 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q24.3, which is the long (q) arm of chromosome 8 at position 24.3
  • K2p9.1
  • KT3.2
  • TASK-3
  • TASK3