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Kcnj8 Gene Detail
Summary
  • Symbol
    Kcnj8
  • Name
    potassium inwardly-rectifying channel, subfamily J, member 8
  • Synonyms
    gnite, Kir6.1, slmbr, sltr
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100508
    NCBI Gene: 16523
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:142510563-142517340 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 74.31 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    148 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1100508
 protein coding gene Chr6:142510563-142517340 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031467
 protein coding gene Chr6:147362650-147369434 (-)
A/J MGP_AJ_G0031442
 protein coding gene Chr6:141571122-141577900 (-)
AKR/J MGP_AKRJ_G0031370
 protein coding gene Chr6:145787096-145793872 (-)
BALB/cJ MGP_BALBcJ_G0031449
 protein coding gene Chr6:141345313-141352287 (-)
C3H/HeJ MGP_C3HHeJ_G0031171
 protein coding gene Chr6:145829580-145836347 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031911
 protein coding gene Chr6:151411141-151417915 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029035
 protein coding gene Chr6:140403536-140410120 (-)
CAST/EiJ MGP_CASTEiJ_G0030539
 protein coding gene Chr6:145395039-145401817 (-)
CBA/J MGP_CBAJ_G0031131
 protein coding gene Chr6:157152377-157159154 (-)
DBA/2J MGP_DBA2J_G0031288
 protein coding gene Chr6:140386532-140393349 (-)
FVB/NJ MGP_FVBNJ_G0031239
 protein coding gene Chr6:139156557-139163329 (-)
LP/J MGP_LPJ_G0031372
 protein coding gene Chr6:147502170-147508979 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031279
 protein coding gene Chr6:161056310-161063111 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031943
 protein coding gene Chr6:145616594-145623666 (-)
PWK/PhJ MGP_PWKPhJ_G0030266
 protein coding gene Chr6:138885231-138892161 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030090
 protein coding gene Chr6:143799572-143806451 (-)
WSB/EiJ MGP_WSBEiJ_G0030632
 protein coding gene Chr6:146231921-146238719 (-)



Homology
more
  • Human Ortholog
    KCNJ8, potassium inwardly rectifying channel subfamily J member 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KCNJ8, potassium inwardly rectifying channel subfamily J member 8
  • Synonyms
    KIR6.1, uKATP-1
  • Links
    NCBI Gene ID: 3764
    neXtProt AC: NX_Q15842
    UniProt: Q15842

  • Chr Location
    12p12.1; chr12:21764955-21775600 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Kcnj8 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 6 alleles in 5 genetic backgrounds
    7 phenotypes from multigenic genotypes
    33 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.
Mice homozygous for a targeted null mutation exhibit sudden cardiac death due to dysregulation of the vascular tonus in the coronary arteries, and exhibit a phenotype resembling Prinzmetal (or variant) angina in humans.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    104
  • GO References
    26
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    755
  • Tissues
    42
  • cDNA Data
    30
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16523 NCBI Gene Model | MGI Sequence Detail 6778 C57BL/6J ±  kb
    transcript NM_008428 RefSeq | MGI Sequence Detail 2564 ZRU/MplStud  
    polypeptide P97794 UniProt | EBI | MGI Sequence Detail 424 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000001984 ATP-sensitive inward rectifier potassium channel 8
      (term hierarchy)
    • InterPro Domains
      IPR014756 Immunoglobulin E-set
      IPR041647 Inward rectifier potassium channel, C-terminal
      IPR016449 Potassium channel, inwardly rectifying, Kir
      IPR003278 Potassium channel, inwardly rectifying, Kir6.1
      IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
      IPR040445 Potassium channel, inwardly rectifying, transmembrane domain
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 30
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2141411, MGI:3626329, MGI:3626331, MGI:3626333
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 26
      Phenotypes 33
    • Earliest
      J:43481 Isomoto S, et al., Sur2 and Kcnj8 genes are tightly linked on the distal region of mouse chromosome 6. Mamm Genome. 1997 Oct;8(10):790-1
    • Latest
      J:343283 Russell NX, et al., Wnt signaling regulates ion channel expression to promote smooth muscle and cartilage formation in developing mouse trachea. Am J Physiol Lung Cell Mol Physiol. 2023 Dec 1;325(6):L788-L802
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory