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Jak3 Gene Detail
Summary
  • Symbol
    Jak3
  • Name
    Janus kinase 3
  • Feature Type
    protein coding gene
  • IDs
    MGI:99928
    NCBI Gene: 16453
  • Gene Overview
    MyGene.info: JAK3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr8:71676296-71690575 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14280 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 34.43 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    JAK3, Janus kinase 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    JAK3, Janus kinase 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JAK-3, JAK3_HUMAN, JAKL, LJAK, L-JAK
  • Links
    NCBI Gene ID: 3718
    neXtProt AC: NX_P52333
    UniProt: P52333

  • Chr Location
    19p13.11; chr19:17824782-17848071 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Jak3 mouse models; 1 with human JAK3 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
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
    95 phenotypes from 12 alleles in 15 genetic backgrounds
    4 phenotypes from multigenic genotypes
    64 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit impaired B cell development, small thymi and T cell proliferate. Point mutation homozygotes develop autoimmune inflammatory bowel disease, decreased susceptibility to malaria infection and/or increased susceptibility to bacterial infection.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021111 VEGA Gene Model | MGI Sequence Detail 14280 C57BL/6J ±  kb
    transcript OTTMUST00000049960 VEGA | MGI Sequence Detail 4019 Not Applicable  
    polypeptide OTTMUSP00000023247 VEGA | MGI Sequence Detail 1100 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      115 from dbSNP Build 142
    • PCR
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 3
      cDNA 15
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
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    MGD-MRK-16730, MGI:3584392, MGI:3584403
    References
    more
    • Summaries
      All 137
      Developmental Gene Expression 5
      Diseases 2
      Gene Ontology 15
      Phenotypes 64
    • Earliest
      J:19201 Witthuhn BA, et al., Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells. Nature. 1994 Jul 14;370(6485):153-7
    • Latest
      J:257563 Huang K, et al., JAK signaling regulates germline cyst breakdown and primordial follicle formation in mice. Biol Open. 2018 Jan 17;7(1)

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory