KCNJ10 (potassium inwardly rectifying channel subfamily J member 10)

2014-11-01  

Identity

HGNC
LOCATION
1q23.2
LOCUSID
ALIAS
BIRK-10,KCNJ13-PEN,KIR1.2,KIR4.1,SESAME
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
194203652009Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.170
192898232009Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.148
211068162010Implication of Kir4.1 channel in excess potassium clearance: an in vivo study on anesthetized glial-conditional Kir4.1 knock-out mice.76
206512512010KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.74
151207482004Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.52
151207482004Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.52
294463792018Astroglial Kir4.1 in the lateral habenula drives neuronal bursts in depression.52
214585702011Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.48
217488052011Evidence that compromised K+ spatial buffering contributes to the epileptogenic effect of mutations in the human Kir4.1 gene (KCNJ10).48
194269542009Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.39

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