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

2014-08-01 Affiliation

Identity

HGNC

KCNK4

LOCATION

11q13.1

LOCUSID

50801

ALIAS

FHEIG,K2p4.1,TRAAK,TRAAK1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000182450	ENST00000394525	Q9NYG8
ENSG00000182450	ENST00000394525	A0A024R5C7
ENSG00000182450	ENST00000422670	Q9NYG8
ENSG00000182450	ENST00000422670	A0A024R5C7
ENSG00000182450	ENST00000538767	F5GYE0
ENSG00000182450	ENST00000539216	Q9NYG8
ENSG00000182450	ENST00000539216	A0A024R5C7
ENSG00000182450	ENST00000541349	F5GZ20

Expression (GTEx)

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

Pathway	Source	External ID
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Tandem pore domain potassium channels	REACTOME	R-HSA-1296346
TWIK related potassium channel (TREK)	REACTOME	R-HSA-1299503
Muscle contraction	REACTOME	R-HSA-397014
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 4 - resting membrane potential	REACTOME	R-HSA-5576886

References

Pubmed ID	Year	Title	Citations
22282805	2012	Crystal structure of the human K2P TRAAK, a lipid- and mechano-sensitive K+ ion channel.	152
24550493	2014	Mechanosensitivity is mediated directly by the lipid membrane in TRAAK and TREK1 K+ channels.	101
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
23341632	2013	Domain-swapped chain connectivity and gated membrane access in a Fab-mediated crystal of the human TRAAK K+ channel.	38
25500157	2014	Transmembrane helix straightening and buckling underlies activation of mechanosensitive and thermosensitive K(2P) channels.	33
26332952	2015	How ion channels sense mechanical force: insights from mechanosensitive K2P channels TRAAK, TREK1, and TREK2.	19
20811500	2010	Expression of stretch-activated two-pore potassium channels in human myometrium in pregnancy and labor.	17
25809865	2015	Racial variation in breast tumor promoter methylation in the Carolina Breast Cancer Study.	14
11042359	2000	Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

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/kcnk4