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Kcnj13 Gene Detail
Summary
  • Symbol
    Kcnj13
  • Name
    potassium inwardly-rectifying channel, subfamily J, member 13
  • Feature Type
    protein coding gene
  • IDs
    MGI:3781032
    NCBI Gene: 100040591
  • Gene Overview
    MyGene.info: KCNJ13
Location & Maps
more
  • Sequence Map
    Chr1:87386363-87394729 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8367 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 44.30 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    KCNJ13, potassium voltage-gated channel subfamily J member 13
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KCNJ13, potassium voltage-gated channel subfamily J member 13
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KIR1.4, KIR7.1, LCA16, SVD
  • Links
    NCBI Gene ID: 3769
    neXtProt AC: NX_O60928

  • Chr Location
    2q37; chr2:232765802-232776565 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human KCNJ13 associations

Human Disease Mouse Models
       Leber Congenital Amaurosis 16; LCA16   OMIM: 614186
Vitreoretinal Degeneration, Snowflake Type; SVD   OMIM: 193230
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    10 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
    14
  • Chemically induced (other)
    1
  • Endonuclease-mediated
    8
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Kcnj13
  • Incidental Mutations
Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs.
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 OTTMUSG00000037066 VEGA Gene Model | MGI Sequence Detail 8367 C57BL/6J ±  kb
transcript OTTMUST00000095333 VEGA | MGI Sequence Detail 1270 Not Applicable  
polypeptide OTTMUSP00000053198 VEGA | MGI Sequence Detail 360 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    41 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000002054 inward rectifier potassium channel 13
  • InterPro Domains
    IPR014756 Immunoglobulin E-set
    IPR008062 Inward rectifier potassium channel 13
    IPR016449 Potassium channel, inwardly rectifying, Kir
    IPR013518 Potassium channel, inwardly rectifying, Kir, cytoplasmic
Molecular
Reagents
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  • All nucleic 3
    cDNA 2
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 23
    Developmental Gene Expression 3
    Gene Ontology 3
    Phenotypes 10
  • Earliest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
  • Latest
    J:227219 Villanueva S, et al., Cleft Palate, Moderate Lung Developmental Retardation and Early Postnatal Lethality in Mice Deficient in the Kir7.1 Inwardly Rectifying K+ Channel. PLoS One. 2015;10(9):e0139284

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
09/27/2016
MGI 6.05
The Jackson Laboratory