This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene ha... See more...

Aliases for KCNJ10 Gene

Aliases for KCNJ10 Gene

  • Potassium Inwardly Rectifying Channel Subfamily J Member 10 2 3 5
  • Potassium Channel, Inwardly Rectifying Subfamily J Member 10 3 4
  • ATP-Dependent Inwardly Rectifying Potassium Channel Kir4.1 3 4
  • ATP-Sensitive Inward Rectifier Potassium Channel 10 3 4
  • Inward Rectifier K(+) Channel Kir1.2 3 4
  • Glial ATP-Dependent Inwardly Rectifying Potassium Channel KIR4.1 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 10 2
  • Potassium Voltage-Gated Channel Subfamily J Member 10 3
  • Inward Rectifier K+ Channel KIR1.2 3
  • KCNJ13-PEN 3
  • BIRK-10 3
  • KIR1.2 3
  • KIR4.1 3
  • SESAME 3
  • KCNJ10 5
  • Kir4.1 2
  • Kir1.2 2

External Ids for KCNJ10 Gene

Previous GeneCards Identifiers for KCNJ10 Gene

  • GC01M157802
  • GC01M155740
  • GC01M156785
  • GC01M157224
  • GC01M156821
  • GC01M158273
  • GC01M160007
  • GC01M131363

Summaries for KCNJ10 Gene

Entrez Gene Summary for KCNJ10 Gene

  • This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNJ10 Gene

KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10) is a Protein Coding gene. Diseases associated with KCNJ10 include Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct. Among its related pathways are Inwardly rectifying K+ channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include identical protein binding and potassium channel activity. An important paralog of this gene is KCNJ15.

UniProtKB/Swiss-Prot Summary for KCNJ10 Gene

  • May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules.

Tocris Summary for KCNJ10 Gene

  • The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.

Gene Wiki entry for KCNJ10 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNJ10 Gene

Genomics for KCNJ10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNJ10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J160067 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.8 759 3.6 HNRNPL PRDM10 ZIC2 RBFOX2 PATZ1 EZH2 ZNF600 KLF9 TAF1 SP2 KCNJ10 lnc-KCNJ9-5 ATP1A4 IGSF8 ENSG00000225279 PIGM
GH01J160071 Enhancer 0.6 Ensembl dbSUPER 600.7 -1.7 -1741 0.2 HDGF ZNF398 SPI1 KCNJ10 lnc-KCNJ9-5 IGSF8 ENSG00000225279 KCNJ9
GH01J159936 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +128.6 128586 10.5 CTCF PRDM10 ZNF629 RFX1 SIX5 ZNF692 TARDBP JUND FOXA1 ZNF143 IGSF9 lnc-SLAMF9-1 ATP1A4 KCNJ10 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2 TAGLN2
GH01J160095 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -29.4 -29388 8.2 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 TFE3 IGSF8 ATP1A4 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM ENSG00000225279 ATP1A2
GH01J160374 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 12.3 -305.4 -305449 2.3 CTCF IKZF1 BACH1 JUND PRDM1 ZNF143 MTA2 ZIC2 ZSCAN4 REST NCSTN KCNJ10 COPA NHLH1 RNU4-42P RF00015-006 VANGL2 LOC105371466
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNJ10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNJ10

Top Transcription factor binding sites by QIAGEN in the KCNJ10 gene promoter:
  • AREB6
  • ARP-1
  • deltaCREB
  • GATA-2
  • HEN1
  • MZF-1
  • Pax-4a
  • Pax-5
  • STAT5B

Genomic Locations for KCNJ10 Gene

Genomic Locations for KCNJ10 Gene
chr1:159,998,651-160,070,160
(GRCh38/hg38)
Size:
71,510 bases
Orientation:
Minus strand
chr1:160,007,257-160,040,051
(GRCh37/hg19)
Size:
32,795 bases
Orientation:
Minus strand

Genomic View for KCNJ10 Gene

Genes around KCNJ10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNJ10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNJ10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ10 Gene

Proteins for KCNJ10 Gene

  • Protein details for KCNJ10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78508-KCJ10_HUMAN
    Recommended name:
    ATP-sensitive inward rectifier potassium channel 10
    Protein Accession:
    P78508
    Secondary Accessions:
    • A3KME7
    • Q5VUT9
    • Q8N4I7
    • Q92808

    Protein attributes for KCNJ10 Gene

    Size:
    379 amino acids
    Molecular mass:
    42508 Da
    Quaternary structure:
    • Heterodimer with Kir5.1/KCNJ16; this interaction is required for KCNJ16 localization to the basolateral membrane in kidney cells. Interacts with MAGI1, alone and possibly as a heterodimer with KCNJ16; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed:24561201). Interacts with PATJ (By similarity).
    SequenceCaution:
    • Sequence=AAH34036.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for KCNJ10 Gene

Post-translational modifications for KCNJ10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNJ10 Gene

Domains & Families for KCNJ10 Gene

Gene Families for KCNJ10 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNJ10 Gene

InterPro:
Blocks:
  • Inward rectifier K+ channel superfamily signature
  • Kir1.2 inward rectifier K+ channel signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ10 Gene

GenScript: Design optimal peptide antigens:
  • Potassium channel, inwardly rectifying subfamily J member 10 (IRK10_HUMAN)
  • Potassium inwardly-rectifying channel (Q547K1_HUMAN)
  • Inwardly-rectifying potassium channel Kir1.2 (Q9BXC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78508

UniProtKB/Swiss-Prot:

KCJ10_HUMAN :
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.
genes like me logo Genes that share domains with KCNJ10: view

Function for KCNJ10 Gene

Molecular function for KCNJ10 Gene

UniProtKB/Swiss-Prot Function:
May be responsible for potassium buffering action of glial cells in the brain. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (By similarity). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules.
GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 10, Kir4.1

Phenotypes From GWAS Catalog for KCNJ10 Gene

Gene Ontology (GO) - Molecular Function for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005242 inward rectifier potassium channel activity IBA 21873635
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 17628813
genes like me logo Genes that share ontologies with KCNJ10: view
genes like me logo Genes that share phenotypes with KCNJ10: view

Human Phenotype Ontology for KCNJ10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNJ10 Gene

MGI Knock Outs for KCNJ10:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNJ10

CRISPR Products

miRNA for KCNJ10 Gene

miRTarBase miRNAs that target KCNJ10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ10

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNJ10 Gene

Localization for KCNJ10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ10 Gene

Membrane. Multi-pass membrane protein. Basolateral cell membrane. Note=In kidney distal convoluted tubules, located in the basolateral membrane where it colocalizes with KCNJ16. {ECO:0000269 PubMed:24561201}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNJ10 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8995301
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with KCNJ10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNJ10 Gene

Pathways & Interactions for KCNJ10 Gene

genes like me logo Genes that share pathways with KCNJ10: view

Pathways by source for KCNJ10 Gene

1 Qiagen pathway for KCNJ10 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Interacting Proteins for KCNJ10 Gene

Gene Ontology (GO) - Biological Process for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8995301
GO:0007601 visual perception IEA --
GO:0007628 adult walking behavior IEA --
GO:0014003 oligodendrocyte development IEA --
genes like me logo Genes that share ontologies with KCNJ10: view

No data available for SIGNOR curated interactions for KCNJ10 Gene

Drugs & Compounds for KCNJ10 Gene

(12) Drugs for KCNJ10 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nortriptyline Approved Pharma Pore Blocker, Antagonist, inhibitor 56
Butamben Approved, Withdrawn Pharma Target, antagonist 0
Yohimbine Approved, Investigational, Vet_approved Pharma Antagonist, Target, inhibitor 36
Gliquidone Approved, Investigational Pharma 5
Tolbutamide Approved, Investigational Pharma Inhibitor CAMP inhibitor 29

(5) Tocris Compounds for KCNJ10 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Minoxidil Kir6 channel (KATP) opener 38304-91-5
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9

(3) ApexBio Compounds for KCNJ10 Gene

Compound Action Cas Number
Cesium chloride Potassium channel blocker 7647-17-8
Gliquidone 33342-05-1
Tolbutamide CAMP inhibitor 64-77-7
genes like me logo Genes that share compounds with KCNJ10: view

Drug Products

Transcripts for KCNJ10 Gene

mRNA/cDNA for KCNJ10 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNJ10

Alternative Splicing Database (ASD) splice patterns (SP) for KCNJ10 Gene

No ASD Table

Relevant External Links for KCNJ10 Gene

GeneLoc Exon Structure for
KCNJ10

Expression for KCNJ10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNJ10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNJ10 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.3), Brain - Substantia nigra (x5.8), Brain - Caudate (basal ganglia) (x5.1), Brain - Amygdala (x5.0), Brain - Putamen (basal ganglia) (x4.8), Brain - Hippocampus (x4.4), and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for KCNJ10 Gene

This gene is overexpressed in CD8 Tcells (29.0), Spinal cord (27.8), and Retina (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNJ10 Gene



Protein tissue co-expression partners for KCNJ10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNJ10

SOURCE GeneReport for Unigene cluster for KCNJ10 Gene:

Hs.408960

mRNA Expression by UniProt/SwissProt for KCNJ10 Gene:

P78508-KCJ10_HUMAN
Tissue specificity: Expressed in kidney (at protein level).

Evidence on tissue expression from TISSUES for KCNJ10 Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Eye(2.8)
  • Skin(2.6)
  • Thyroid gland(2.2)
  • Blood(2)
  • Stomach(2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNJ10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • hypothalamus
  • inner ear
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with KCNJ10: view

Orthologs for KCNJ10 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNJ10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNJ10 30 31
  • 99.65 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNJ10 31
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNJ10 30 31
  • 92.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNJ10 30
  • 89.71 (n)
Mouse
(Mus musculus)
Mammalia Kcnj10 30 17 31
  • 89.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnj10 30
  • 88.13 (n)
Chicken
(Gallus gallus)
Aves LOC100857799 30
  • 79.37 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnj10 30
  • 76.54 (n)
Str.5030 30
Zebrafish
(Danio rerio)
Actinopterygii KCNJ10B 31
  • 68 (a)
OneToMany
LOC100538267 30
  • 67.2 (n)
KCNJ10A 31
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Irk2 31
  • 29 (a)
ManyToMany
Ir 31
  • 25 (a)
ManyToMany
Species where no ortholog for KCNJ10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for KCNJ10 Gene

ENSEMBL:
Gene Tree for KCNJ10 (if available)
TreeFam:
Gene Tree for KCNJ10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNJ10: view image

Paralogs for KCNJ10 Gene

(16) SIMAP similar genes for KCNJ10 Gene using alignment to 3 proteins:

  • IRK10_HUMAN
  • Q547K1_HUMAN
  • Q9BXC5_HUMAN
genes like me logo Genes that share paralogs with KCNJ10: view

Variants for KCNJ10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNJ10 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
647114 Uncertain Significance: EAST syndrome 160,042,427(-) G/A MISSENSE_VARIANT
651705 Uncertain Significance: EAST syndrome 160,042,269(-) C/T SYNONYMOUS_VARIANT
656970 Uncertain Significance: EAST syndrome 160,042,021(-) C/T MISSENSE_VARIANT
659085 Uncertain Significance: EAST syndrome 160,041,750(-) C/G MISSENSE_VARIANT
663852 Uncertain Significance: EAST syndrome 160,041,598(-) GT/AA MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KCNJ10 Gene

Structural Variations from Database of Genomic Variants (DGV) for KCNJ10 Gene

Variant ID Type Subtype PubMed ID
esv2669935 CNV deletion 23128226
esv2762195 CNV loss 21179565
esv3587707 CNV loss 21293372
esv7386 CNV gain 19470904
nsv3199 CNV insertion 18451855
nsv520189 CNV loss 19592680

Variation tolerance for KCNJ10 Gene

Residual Variation Intolerance Score: 44.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.47; 55.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNJ10 Gene

Human Gene Mutation Database (HGMD)
KCNJ10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNJ10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNJ10 Gene

Disorders for KCNJ10 Gene

MalaCards: The human disease database

(32) MalaCards diseases for KCNJ10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

KCJ10_HUMAN
  • Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]: A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. {ECO:0000269 PubMed:19289823, ECO:0000269 PubMed:19420365, ECO:0000269 PubMed:22612257, ECO:0000269 PubMed:24561201}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNJ10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KCNJ10: view

No data available for Genatlas for KCNJ10 Gene

Publications for KCNJ10 Gene

  1. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. (PMID: 19864112) Heuser K … Ottersen OP (Epilepsy research 2010) 3 23 41
  2. Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). (PMID: 8995301) Shuck ME … Bienkowski MJ (The Journal of biological chemistry 1997) 2 3 4
  3. Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. (PMID: 24561201) Tanemoto M … Kawahara K (FEBS letters 2014) 3 4
  4. No association between the KCNH1, KCNJ10 and KCNN3 genes and schizophrenia in the Han Chinese population. (PMID: 20933057) Shen Q … He G (Neuroscience letters 2011) 3 41
  5. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PMID: 20621367) Jonard L … Marlin S (International journal of pediatric otorhinolaryngology 2010) 3 41

Products for KCNJ10 Gene

Sources for KCNJ10 Gene