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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:72129027-72143221 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 34.43 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    340 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99928
 protein coding gene Chr8:72128940-72143221 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033760
 protein coding gene Chr8:72089365-72104485 (+)
A/J MGP_AJ_G0033743
 protein coding gene Chr8:69152644-69166919 (+)
AKR/J MGP_AKRJ_G0033669
 protein coding gene Chr8:71201811-71216056 (+)
BALB/cJ MGP_BALBcJ_G0033739
 protein coding gene Chr8:69334473-69352950 (+)
C3H/HeJ MGP_C3HHeJ_G0033449
 protein coding gene Chr8:71773679-71788663 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034257
 protein coding gene Chr8:74833897-74847575 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031199
 protein coding gene Chr8:63787098-63801337 (+)
CAST/EiJ MGP_CASTEiJ_G0032774
 protein coding gene Chr8:71232380-71246662 (+)
CBA/J MGP_CBAJ_G0033427
 protein coding gene Chr8:77482366-77495919 (+)
DBA/2J MGP_DBA2J_G0033581
 protein coding gene Chr8:68878810-68892982 (+)
FVB/NJ MGP_FVBNJ_G0033523
 protein coding gene Chr8:67974776-67990468 (+)
LP/J MGP_LPJ_G0033668
 protein coding gene Chr8:72062350-72078139 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033570
 protein coding gene Chr8:80023545-80037819 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034274
 protein coding gene Chr8:71257338-71271467 (+)
PWK/PhJ MGP_PWKPhJ_G0032481
 protein coding gene Chr8:68167991-68182572 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032318
 protein coding gene Chr8:70204013-70218996 (+)
WSB/EiJ MGP_WSBEiJ_G0032890
 protein coding gene Chr8:71604507-71620835 (+)



Homology
more
  • Human Ortholog
    JAK3, Janus kinase 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    JAK3, Janus kinase 3
  • Synonyms
    JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
  • Links
    NCBI Gene ID: 3718
    neXtProt AC: NX_P52333
    UniProt: P52333

  • Chr Location
    19p13.11; chr19:17824780-17848071 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Jak3 mouse models; 7 with human JAK3 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    117 phenotypes from 19 alleles in 22 genetic backgrounds
    18 phenotypes from multigenic genotypes
    1 images
    87 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 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
less
  • All GO Annotations
    60
  • GO References
    17
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
membraneless 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
    784
  • Tissues
    55
  • cDNA Data
    15
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16453 NCBI Gene Model | MGI Sequence Detail 14195 C57BL/6J ±  kb
    transcript NM_010589 RefSeq | MGI Sequence Detail 3950 ZRU/MplStud  
    polypeptide Q62137 UniProt | EBI | MGI Sequence Detail 1100 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 3
      cDNA 15
      Primer pair 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16730, MGI:3584392, MGI:3584403
    References
    more
    • Summaries
      All 170
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 17
      Phenotypes 87
    • 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:353848 Seyed-Razavi Y, et al., JR5558 mice are a reliable model to investigate subretinal fibrosis. Sci Rep. 2024 Aug 13;14(1):18752
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory