KCNJ10 (potassium inwardly rectifying channel subfamily J member 10)

2014-11-01  

Identity

HGNC
KCNJ10
LOCATION
1q23.2
LOCUSID
3766
ALIAS
BIRK-10,KCNJ13-PEN,KIR1.2,KIR4.1,SESAME
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3766
MIM: 602208
HGNC: 6256
Ensembl: ENSG00000177807

Variants:

dbSNP: 3766
ClinVar: 3766
TCGA: ENSG00000177807
COSMIC: KCNJ10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177807ENST00000509700A0A1W2PPI0
ENSG00000177807ENST00000637644A0A1B0GUX2
ENSG00000177807ENST00000638728P78508
ENSG00000177807ENST00000638840A0A1W2PQP0
ENSG00000177807ENST00000638868P78508
ENSG00000177807ENST00000639408A0A1W2PQC0
ENSG00000177807ENST00000640017A0A1W2PP51
ENSG00000177807ENST00000640914A0A1W2PP61
ENSG00000177807ENST00000644903P78508

Expression (GTEx)

0
50
100
150
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
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
GABA receptor activationREACTOMER-HSA-977443
GABA B receptor activationREACTOMER-HSA-977444
Activation of GABAB receptorsREACTOMER-HSA-991365
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunitsREACTOMER-HSA-997272
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
G protein gated Potassium channelsREACTOMER-HSA-1296059
Activation of G protein gated Potassium channelsREACTOMER-HSA-1296041
Potassium transport channelsREACTOMER-HSA-1296067

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384361032024Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.0
384361032024Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.0
364269182023Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.4
367481522023[Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].0
364269182023Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant.4
367481522023[Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].0
364996992022Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.1
364996992022Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.1
331611022021Correlation between Kir4.1 expression and barium-sensitive currents in rat and human glioma cell lines.3
331877552021Association of KCNJ10 variants and the susceptibility to clinical epilepsy.1
346856082021Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.4
331611022021Correlation between Kir4.1 expression and barium-sensitive currents in rat and human glioma cell lines.3
331877552021Association of KCNJ10 variants and the susceptibility to clinical epilepsy.1
346856082021Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.4
303002672020CHANGES OF AQUEOUS HUMOR MÜLLER CELLS' BIOMARKERS IN HUMAN PATIENTS AFFECTED BY DIABETIC MACULAR EDEMA AFTER SUBTHRESHOLD MICROPULSE LASER TREATMENT.31

Citation

Dessen P

KCNJ10 (potassium inwardly rectifying channel subfamily J member 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64786/kcnj10-(potassium-inwardly-rectifying-channel-subfamily-j-member-10)