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KCNJ10 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily J Member 10

GCID:
GC01M159998
GIFtS:
63
Genes Participants
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Aliases for KCNJ10 Gene

Aliases for KCNJ10 Gene

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

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 Voltage-Gated Channel Subfamily J Member 10) is a Protein Coding gene. Diseases associated with KCNJ10 include Sesame Syndrome and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct. Among its related pathways are Inwardly rectifying K+ channels and GABA receptor activation. 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 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 , fRNAdb sequence ontologies and piRNA Summary for KCNJ10 Gene

Genomics for KCNJ10 Gene

Products:

  1. Regulatory Element

Regulatory Elements for KCNJ10 Gene

Enhancers for KCNJ10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G160111 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.4 -44.8 -44806 6.7 ELF3 HDGF ATF1 CBX3 PKNOX1 TBL1XR1 RB1 ARID4B SIN3A ZNF2 KCNJ10 ATP1A2 ATP1A4 IGSF8 KCNJ9 PEA15
GH01G159936 2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +129.0 129026 10.5 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 ZNF143 FOS ATP1A4 SNHG28 ENSG00000272668 KCNJ10 IGSF9 NHLH1 LINC01133 VSIG8 CFAP45 VANGL2
GH01G160565 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -497.4 -497425 5.0 HNRNPUL1 HDGF FOXA2 PKNOX1 ARNT CREB3L1 YY1 ZNF766 CBX5 ZNF143 CD84 VANGL2 SLAMF6 KCNJ10 ATP1A4 SLAMF1 LY9 CD48 LOC105371468
GH01G160374 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.3 -305.1 -305140 2.4 HDGF ATF1 WRNIP1 YY1 GATA2 ZNF143 REST SSRP1 SMARCA4 GLIS1 NCSTN KCNJ10 COPA RNU4-42P GC01P160354
GH01G160095 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11 -29.1 -29065 8.2 HDGF PKNOX1 MLX ARNT WRNIP1 SIN3A ARID4B DMAP1 ZNF2 YY1 ATP1A4 IGSF8 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM ENSG00000225279 ATP1A2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNJ10 on UCSC Golden Path with GeneCards custom track

Promoters for KCNJ10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014493 -17 601 TFAP4 SAP130 SUZ12 ARID4B ZNF48 FOSL1 ZBTB48 NFYB PATZ1 ZNF600

Transcription factor binding sites by QIAGEN in the KCNJ10 gene promoter:

Genomic Location for KCNJ10 Gene

Chromosome:
1
Start:
159,998,651 bp from pter
End:
160,070,483 bp from pter
Size:
71,833 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 Structure • Gene Density

RefSeq DNA sequence for KCNJ10 Gene

Proteins for KCNJ10 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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; Evidence={ECO:0000305};

neXtProt entry for KCNJ10 Gene

Protein Expression for KCNJ10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNJ10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNJ10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cloud-Clone Corp. Antibodies for KCNJ10
  • Santa Cruz Biotechnology (SCBT) Antibodies for KCNJ10

No data available for DME Specific Peptides for KCNJ10 Gene

Domains & Families for KCNJ10 Gene

Gene Families for KCNJ10 Gene

HGNC:
IUPHAR :

Protein Domains for KCNJ10 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNJ10 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for KCNJ10 Gene

GENATLAS Biochemistry:
potassium non voltage-gated channel,inwardly rectifying,subfamily J,member 10, Kir4.1
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.

Gene Ontology (GO) - Molecular Function for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005242 inward rectifier potassium channel activity TAS --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IPI 17628813
GO:0005524 ATP binding IEA --
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

Inhibitory RNA Products

Flow Cytometry Products

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
peroxisome 1

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

Pathways & Interactions for KCNJ10 Gene

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

Gene Ontology (GO) - Biological Process for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 8995301
GO:0007601 visual perception IEA --
GO:0007628 adult walking behavior 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

Products:

  1. Drug

(11) 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 Antagonist, Pore Blocker, inhibitor 50
Yohimbine Approved, Vet_approved Pharma Antagonist, Target 28
Gliquidone Approved Pharma 5
Tolbutamide Approved Pharma Inhibitor CAMP inhibitor 22
Glyburide Approved Pharma Channel blocker Kir6 (KATP) channel blocker 114

(5) Tocris Compounds for KCNJ10 Gene

Compound Action Cas Number
Glibenclamide Kir6 (KATP) channel blocker 10238-21-8
Levcromakalim Kir6 (KATP) channel opener; active enantiomer of cromakalim (Cat. No. 1377) 94535-50-9
Nicorandil Kir6 (KATP) channel opener and NO donor 65141-46-0
Tertiapin-Q Selective blocker of inward-rectifier K+ channels 252198-49-5
Y-26763 Kir6 (KATP) channel opener 127408-31-5

(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

Transcripts for KCNJ10 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for KCNJ10 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNJ10 Gene

Potassium inwardly-rectifying channel, subfamily J, member 10:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for KCNJ10 Gene

GeneLoc Exon Structure for
KCNJ10
ECgene alternative splicing isoforms for
KCNJ10

Expression for KCNJ10 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for KCNJ10 Gene
mRNA expression by BioGPS for KCNJ10 GenemRNA expression by GTEx 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, PaxDb, and MOPED for KCNJ10 Gene



Protein tissue co-expression partners for KCNJ10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNJ10 Gene:

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(4.5)
  • Eye(2.6)

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
Organs:
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

Primer Products

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 34 35
  • 99.65 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNJ10 35
  • 95 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia KCNJ10 34 35
  • 92.79 (n)
dog
(Canis familiaris)
 Mammalia KCNJ10 34
  • 89.71 (n)
mouse
(Mus musculus)
 Mammalia Kcnj10 34 16 35
  • 89.62 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnj10 34
  • 88.13 (n)
chicken
(Gallus gallus)
 Aves LOC100857799 34
  • 79.37 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnj10 34
  • 76.54 (n)
Str.5030 34
zebrafish
(Danio rerio)
 Actinopterygii KCNJ10B 35
  • 68 (a)
 OneToMany
LOC100538267 34
  • 67.2 (n)
KCNJ10A 35
  • 63 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Irk2 35
  • 29 (a)
 ManyToMany
Ir 35
  • 25 (a)
 ManyToMany
Species where no ortholog for KCNJ10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for KCNJ10 Gene

Paralogs for KCNJ10 Gene

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

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

Variants for KCNJ10 Gene

Sequence variations from dbSNP and Humsavar for KCNJ10 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs137853066 Pathogenic, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] 160,042,339(-) GTGGC(A/C/G)CTACA reference, missense
rs137853068 Pathogenic, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] 160,042,115(-) AGGAA(C/T)GTCCA reference, missense
rs137853069 Pathogenic, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] 160,042,042(-) AGGTA(C/T)CTTCC reference, missense
rs137853070 Pathogenic, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] 160,042,033(-) CCTGG(C/T)GAAGA reference, missense
rs137853071 Pathogenic, Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780] 160,041,644(-) AGGTG(C/T)GCACT reference, missense

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)

Relevant External Links 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

(6) MalaCards diseases for KCNJ10 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sesame syndrome
  • seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • enlarged vestibular aqueduct, digenic
pendred syndrome
  • congenital hypothyroidism due to dyshormonogenesis 2b
kcnj10-related pendred syndrome
pendred syndrome/dfnb4
  • autosomal recessive sensorineural hearing impairment, enlarged vestibular aqueduct,goiter
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for KCNJ10

Genetic Association Database (GAD)
KCNJ10
Human Genome Epidemiology (HuGE) Navigator
KCNJ10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNJ10
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 O.P. (Epilepsy Res. 2010) 3 22 46 64
  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 M.E. … Bienkowski M.J. (J. Biol. Chem. 1997) 2 3 4 64
  3. Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. (PMID: 24561201) Tanemoto M. … Kawahara K. (FEBS Lett. 2014) 3 4 64
  4. No association between the KCNH1, KCNJ10 and KCNN3 genes and schizophrenia in the Han Chinese population. (PMID: 20933057) Shen Q. … He G. (Neurosci. Lett. 2011) 3 46 64
  5. Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. (PMID: 20621367) Jonard L. … Marlin S. (Int. J. Pediatr. Otorhinolaryngol. 2010) 3 46 64

Products for KCNJ10 Gene

  • Cloud-Clone Corp. Antibodies for KCNJ10
  • Cloud-Clone Corp. Proteins for KCNJ10
  • Cloud-Clone Corp Assay Kits for KCNJ10

Sources for KCNJ10 Gene

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