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Kcnj10 Gene Detail
Summary
  • Symbol
    Kcnj10
  • Name
    potassium inwardly-rectifying channel, subfamily J, member 10
  • Synonyms
    BIR10, BIRK-1, Kir1.2, Kir4.1, Kir4.1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1194504
    NCBI Gene: 16513
  • Gene Overview
    MyGene.info: KCNJ10
Location & Maps
more
  • Sequence Map
    Chr1:172341210-172374085 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32876 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 79.69 cM
  • Mapping Data
    10 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    KCNJ10, potassium voltage-gated channel subfamily J member 10
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KCNJ10, potassium voltage-gated channel subfamily J member 10
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME
  • Links
    NCBI Gene ID: 3766
    neXtProt AC: NX_P78508

  • Chr Location
    1q23.2; chr1:160037467-160070261 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Kcnj10 mouse models; 3 with human KCNJ10 associations

Human Disease Mouse Models
       Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance; SESAMES   OMIM: 612780 View 2 models
       Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct;   OMIM: 600791
Pendred Syndrome; PDS   OMIM: 274600
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    74 phenotypes from 3 alleles in 4 genetic backgrounds
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Kcnj10
  • Incidental Mutations
Homozygous mutant mice show increased input resistance and high depolarization of retinal Muller cells, loss of the endocochlear potential, motor coordination deficits and hindlimb paralysis, and a hypomyelination and spongiform vacuolation in the spinalcord associated with severe axonal pathology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000050148 VEGA Gene Model | MGI Sequence Detail 32876 C57BL/6J ±  kb
transcript OTTMUST00000127496 VEGA | MGI Sequence Detail 5407 Not Applicable  
polypeptide OTTMUSP00000068763 VEGA | MGI Sequence Detail 379 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    374 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000001979 ATP-sensitive inward rectifier potassium channel 10
  • InterPro Domains
    IPR014756 Immunoglobulin E-set
    IPR016449 Potassium channel, inwardly rectifying, Kir
    IPR003269 Potassium channel, inwardly rectifying, Kir1.2
    IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
Molecular
Reagents
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  • All nucleic 42
    Genomic 9
    cDNA 31
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 72
    Developmental Gene Expression 10
    Diseases 2
    Gene Ontology 15
    Phenotypes 28
  • Earliest
    J:44256 Tada Y, et al., Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1. Genomics. 1997 Nov 1;45(3):629-30
  • Latest
    J:235679 Zhang C, et al., Caveolin-1 regulates corneal wound healing by modulating Kir4.1 activity. Am J Physiol Cell Physiol. 2016 Jun 1;310(11):C993-C1000

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory