KCNK4 (potassium two pore domain channel subfamily K member 4)

2014-08-01  

Identity

HGNC
KCNK4
LOCATION
11q13.1
LOCUSID
50801
ALIAS
FHEIG,K2p4.1,TRAAK,TRAAK1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50801
MIM: 605720
HGNC: 6279
Ensembl: ENSG00000182450

Variants:

dbSNP: 50801
ClinVar: 50801
TCGA: ENSG00000182450
COSMIC: KCNK4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182450ENST00000394525Q9NYG8
ENSG00000182450ENST00000394525A0A024R5C7
ENSG00000182450ENST00000422670Q9NYG8
ENSG00000182450ENST00000422670A0A024R5C7
ENSG00000182450ENST00000538767F5GYE0
ENSG00000182450ENST00000539216Q9NYG8
ENSG00000182450ENST00000539216A0A024R5C7
ENSG00000182450ENST00000541349F5GZ20

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Tandem pore domain potassium channelsREACTOMER-HSA-1296346
TWIK related potassium channel (TREK)REACTOMER-HSA-1299503
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 4 - resting membrane potentialREACTOMER-HSA-5576886

References

Pubmed IDYearTitleCitations
377500492024A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.0
377500492024A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.0
329892992021Selective regulation of human TRAAK channels by biologically active phospholipids.21
335942612021Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.16
343906502021Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.10
329892992021Selective regulation of human TRAAK channels by biologically active phospholipids.21
335942612021Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.16
343906502021Physical basis for distinct basal and mechanically gated activity of the human K(+) channel TRAAK.10
315428282019Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility.2
315428282019Decreased expression of TRAAK channels in Hirschsprung's disease: a possible cause of postoperative dysmotility.2
302901542018Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.45
302901542018Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.45
267940062016Functional mutagenesis screens reveal the 'cap structure' formation in disulfide-bridge free TASK channels.7
267940062016Functional mutagenesis screens reveal the 'cap structure' formation in disulfide-bridge free TASK channels.7
258098652015Racial variation in breast tumor promoter methylation in the Carolina Breast Cancer Study.30

Citation

Dessen P

KCNK4 (potassium two pore domain channel subfamily K member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54394/js/lib/js/lib/all.min.js