About   Help   FAQ
Jak2 Gene Detail
Summary
  • Symbol
    Jak2
  • Name
    Janus kinase 2
  • Synonyms
    C81284
  • Feature Type
    protein coding gene
  • IDs
    MGI:96629
    NCBI Gene: 16452
  • Gene Overview
    MyGene.info: JAK2
Location & Maps
more
  • Sequence Map
    Chr19:29251828-29313080 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      61253 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 23.73 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    JAK2, Janus kinase 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    JAK2, Janus kinase 2
    Orthology source: HomoloGene
  • Synonyms
    JTK10, THCYT3
  • Links
    NCBI Gene ID: 3717
    neXtProt AC: NX_O60674

  • Chr Location
    9p24; chr9:4985245-5128183 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with Jak2 mouse models; 5 with human JAK2 associations

Human Disease Mouse Models
       Myelofibrosis   OMIM: 254450 View 3 models
Polycythemia Vera; PV   OMIM: 263300 View 8 models
       Thrombocythemia 1; THCYT1   OMIM: 187950 View 1 model
       Budd-Chiari Syndrome; BDCHS   OMIM: 600880
Erythrocytosis, Familial, 1; ECYT1   OMIM: 133100
Thrombocythemia 3; THCYT3   OMIM: 614521 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    12 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    77 phenotypes from 15 alleles in 15 genetic backgrounds
    53 phenotypes from multigenic genotypes
    76 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
    25
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Targeted
    15
  • Transgenic
    6
  • Incidental Mutations
Homozygotes for null mutations die during midgestation due to a failure of erythropoieses. Mice expressing a conditional allele activated in mammary tissue exhibit lactation deficiency due to impaired alveologenesis. Mice homozygous for a knock-in allele exhibit myeloproliferative neoplasm.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000024789 Ensembl Gene Model | MGI Sequence Detail 61253 C57BL/6J ±  kb
transcript ENSMUST00000065796 Ensembl | MGI Sequence Detail 5030 Not Applicable  
polypeptide ENSMUSP00000064394 Ensembl | MGI Sequence Detail 1132 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    478 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 94
    Genomic 2
    cDNA 87
    Primer pair 4
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-11517, MGI:2147569, MGI:2147795
References
more
  • Summaries
    All 194
    Developmental Gene Expression 15
    Diseases 12
    Gene Ontology 40
    Phenotypes 76
  • Earliest
    J:22689 Wilks AF, et al., The application of the polymerase chain reaction to cloning members of the protein tyrosine kinase family. Gene. 1989 Dec 21;85(1):67-74
  • Latest
    J:232364 Shi SY, et al., JAK2 promotes brown adipose tissue function and is required for diet- and cold-induced thermogenesis in mice. Diabetologia. 2016 Jan;59(1):187-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/19/2016
MGI 6.04
The Jackson Laboratory