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Aliases for KCNJ10 Gene

Aliases for KCNJ10 Gene

  • Potassium Channel, Inwardly Rectifying 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 4
  • ATP-Dependent Inwardly Rectifying Potassium Channel Kir4.1 3 4
  • Inward Rectifier K(+) Channel Kir1.2 3 4
  • SESAME 3 6
  • 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

External Ids for KCNJ10 Gene

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 Channel, Inwardly Rectifying Subfamily J, Member 10) is a Protein Coding gene. Diseases associated with KCNJ10 include sesame syndrome and kcnj10-related pendred syndrome. Among its related pathways are GABA receptor activation and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and ATP-activated inward rectifier 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).

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 (SUR)). Structurally, the pore-forming subunit of KIR channels is the alpha-subunit. It contains a single pore domain between two membrane spanning regions. Four alpha-subunits combine to form a tetramer, with the pore domain of each subunit contributing to the structure of the central pore. Heteromeric channels can also be formed within subfamilies, e.g. KIR3.2 with KIR3.3.

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

Genomic Location for KCNJ10 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNJ10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNJ10 Gene

Regulatory Elements 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:
    • Seems to form heterodimer with Kir5.1/KCNJ16. 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNJ10 Gene

Domains for KCNJ10 Gene

Gene Families for KCNJ10 Gene

HGNC:
  • KCN :Potassium channels
  • KCNJ :Voltage-gated ion channels / Potassium channels, Inwardly rectifying
IUPHAR :

UniProtKB/Swiss-Prot:

KCJ10_HUMAN
Family:
  • Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.:
    • P78508
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).

Gene Ontology (GO) - Molecular Function for KCNJ10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005242 inward rectifier potassium channel activity --
GO:0005267 potassium channel activity --
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

Animal Models for KCNJ10 Gene

MGI Knock Outs for KCNJ10:

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

Localization for KCNJ10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNJ10 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNJ10 Gene COMPARTMENTS Subcellular localization image for KCNJ10 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
extracellular 2
cytosol 1
nucleus 1
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:0005902 microvillus IEA --
GO:0016021 integral component of membrane --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with KCNJ10: view

Pathways 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 TAS 8995301
GO:0006954 inflammatory response IEA --
GO:0007268 synaptic transmission TAS --
GO:0007601 visual perception IEA --
GO:0007628 adult walking behavior IEA --
genes like me logo Genes that share ontologies with KCNJ10: view

Compounds for KCNJ10 Gene

(5) Tocris Compounds for KCNJ10 Gene

Compound Action Cas Number
Diazoxide Blocks desensitization of AMPA receptors [364-98-7]
Glibenclamide Kir6 (KATP) channel blocker [10238-21-8]
Levcromakalim Kir6 (KATP) channel opener. Active enantiomer of cromakalim (Cat. No. 1377) [94535-50-9]
P1075 Potent Kir6 (KATP) channel opener [60559-98-0]
Tertiapin-Q Selective blocker of inward-rectifier K+ channels [252198-49-5]

(1) HMDB Compounds for KCNJ10 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(1) IUPHAR Ligand for KCNJ10 Gene

Ligand Type Action Affinity Pubmed IDs
nortriptyline Pore Blocker Antagonist 4.8
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) (8.3), Brain - Substantia nigra (5.8), Brain - Caudate (basal ganglia) (5.1), Brain - Amygdala (5.0), Brain - Putamen (basal ganglia) (4.8), Brain - Hippocampus (4.4), and Brain - Nucleus accumbens (basal ganglia) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNJ10 Gene

SOURCE GeneReport for Unigene cluster for KCNJ10 Gene Hs.408960

genes like me logo Genes that share expressions 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 36
  • 99.65 (n)
  • 100 (a)
KCNJ10 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNJ10 36
  • 92.79 (n)
  • 98.68 (a)
KCNJ10 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNJ10 36
  • 89.71 (n)
  • 98.42 (a)
mouse
(Mus musculus)
Mammalia Kcnj10 36
  • 89.62 (n)
  • 99.21 (a)
Kcnj10 16
Kcnj10 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNJ10 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnj10 36
  • 88.13 (n)
  • 95.25 (a)
chicken
(Gallus gallus)
Aves LOC100857799 36
  • 79.37 (n)
  • 87.04 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnj10 36
  • 76.54 (n)
  • 83.33 (a)
Str.5030 36
zebrafish
(Danio rerio)
Actinopterygii KCNJ10A 37
  • 63 (a)
OneToMany
KCNJ10B 37
  • 68 (a)
OneToMany
LOC100538267 36
  • 67.2 (n)
  • 71.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ir 37
  • 25 (a)
ManyToMany
Irk2 37
  • 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

Selected 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 MAF
rs911231 -- 160,054,074(-) GATGC(C/T)ATCCT intron-variant
rs946420 -- 160,069,627(-) CCCCA(G/T)CCCCT intron-variant
rs970365 -- 160,064,886(-) AGACA(A/T)GTGAG intron-variant
rs990588 -- 160,052,220(-) TATAG(C/T)AGGCA intron-variant
rs1053074 -- 160,039,331(-) TGGTT(G/T)ATTTG utr-variant-3-prime

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

Relevant External Links for KCNJ10 Gene

HapMap Linkage Disequilibrium report
KCNJ10
Human Gene Mutation Database (HGMD)
KCNJ10

Disorders for KCNJ10 Gene

(2) OMIM Diseases for KCNJ10 Gene (602208)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for KCNJ10 Gene

Relevant External Links for KCNJ10

Genetic Association Database (GAD)
KCNJ10
Human Genome Epidemiology (HuGE) Navigator
KCNJ10
genes like me logo Genes that share disorders with KCNJ10: view

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 23 49
  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
  3. 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
  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. Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians. (PMID: 12401729) Farook V.S. … Prochazka M. (Diabetes 2002) 3 49

Products for KCNJ10 Gene

Sources for KCNJ10 Gene

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