Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNJ10 Gene

Aliases for KCNJ10 Gene

  • Potassium Voltage-Gated Channel Subfamily J Member 10 2 3
  • Potassium Inwardly-Rectifying Channel, Subfamily J, Member 10 2 3
  • Potassium Channel, Inwardly Rectifying Subfamily J, Member 10 3 5
  • 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
  • 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
  • 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 Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and potassium channel activity. An important paralog of this gene is KCNJ3.

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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNJ10 Gene

Genomics for KCNJ10 Gene

Regulatory Elements for KCNJ10 Gene

Enhancers for KCNJ10 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around KCNJ10 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNJ10 Gene

Chromosome:
1
Start:
160,037,467 bp from pter
End:
160,070,261 bp from pter
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 INADL (By similarity).
    SequenceCaution:
    • Sequence=AAH34036.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KCNJ10 Gene

Proteomics data for KCNJ10 Gene at MOPED

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

  • 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

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

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 --
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

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
Jensen Localization Image for KCNJ10 Gene COMPARTMENTS Subcellular localization image for KCNJ10 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for KCNJ10 Gene

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:0006813 potassium ion transport IEA,TAS 8995301
GO:0007601 visual perception IEA --
GO:0007628 adult walking behavior IEA --
GO:0014003 oligodendrocyte development IEA --
GO:0022010 central nervous system myelination 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

(8) 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 46
Yohimbine Approved Pharma Antagonist, Target 25
Gliquidone Approved Pharma 5
Tolbutamide Approved Pharma Inhibitor CAMP inhibitor 22
Diazoxide Approved Pharma Activator Blocks desensitization of AMPA receptors 21

(2) Additional Compounds for KCNJ10 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
P1075
60559-98-0
ZM 226600
147695-92-9

(5) Tocris Compounds for KCNJ10 Gene

Compound Action Cas Number
Cromakalim Kir6 (KATP) channel opener 94470-67-4
Diazoxide Blocks desensitization of AMPA receptors 364-98-7
Minoxidil Kir6 channel (KATP) opener 38304-91-5
P1075 Potent Kir6 (KATP) channel opener 60559-98-0
ZM 226600 Kir6 (KATP) channel opener 147695-92-9

(2) ApexBio Compounds for KCNJ10 Gene

Compound Action Cas Number
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

mRNA/cDNA for KCNJ10 Gene

Unigene Clusters for KCNJ10 Gene

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

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

mRNA expression in normal human tissues 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



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).
genes like me logo Genes that share expression patterns with KCNJ10: view

Protein tissue co-expression partners for KCNJ10 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia KCNJ10 35
  • 92.79 (n)
  • 98.68 (a)
KCNJ10 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ10 35
  • 89.71 (n)
  • 98.42 (a)
mouse
(Mus musculus)
Mammalia Kcnj10 35
  • 89.62 (n)
  • 99.21 (a)
Kcnj10 16
Kcnj10 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNJ10 35
  • 99.65 (n)
  • 100 (a)
KCNJ10 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj10 35
  • 88.13 (n)
  • 95.25 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNJ10 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857799 35
  • 79.37 (n)
  • 87.04 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj10 35
  • 76.54 (n)
  • 83.33 (a)
Str.5030 35
zebrafish
(Danio rerio)
Actinopterygii LOC100538267 35
  • 67.2 (n)
  • 71.16 (a)
KCNJ10A 36
  • 63 (a)
OneToMany
KCNJ10B 36
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ir 36
  • 25 (a)
ManyToMany
Irk2 36
  • 29 (a)
ManyToMany
Species with no ortholog for KCNJ10:
  • 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

(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
rs3795339 - 160,041,721(-) TCTTC(A/G)CAGTG reference, missense
rs1130183 - 160,041,722(-) CTCTT(C/T)GCAGT reference, missense
VAR_063059 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
VAR_063060 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
VAR_063061 Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)

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

Variant ID Type Subtype PubMed ID
esv2669935 CNV Deletion 23128226
nsv3199 CNV Insertion 18451855
nsv520189 CNV Loss 19592680
esv7386 CNV Gain 19470904

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

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
  • east syndrome
deafness, autosomal recessive 4, with enlarged vestibular aqueduct
  • enlarged vestibular aqueduct, digenic
pendred syndrome
  • autosomal recessive sensorineural hearing impairment and goiter
kcnj10-related pendred syndrome
pendred syndrome/dfnb4
  • evans syndrome
- 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. 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 67
  2. 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 23
  3. International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels. (PMID: 16382105) Kubo Y. … Vandenberg C.A. (Pharmacol. Rev. 2005) 2 3
  4. CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins. (PMID: 9647694) Kurschner C. … Surmeier D.J. (Mol. Cell. Neurosci. 1998) 3 23
  5. Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1. (PMID: 9367690) Tada Y. … Kurachi Y. (Genomics 1997) 2 3

Products for KCNJ10 Gene

Sources for KCNJ10 Gene

Content