Aliases for KCNK9 Gene
External Ids for KCNK9 Gene
Previous GeneCards Identifiers for KCNK9 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]
GeneCards Summary for KCNK9 Gene
KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9) is a Protein Coding gene. Diseases associated with KCNK9 include Birk-Barel Mental Retardation Dysmorphism Syndrome and Intellectual Disability, Birk-Barel Type. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein homodimerization activity and potassium channel activity. An important paralog of this gene is KCNK3.
UniProtKB/Swiss-Prot for KCNK9 Gene
pH-dependent, voltage-insensitive, background potassium channel protein.