Gene

jak3

ID
ZDB-GENE-070725-4
Name
Janus kinase 3 (a protein tyrosine kinase, leukocyte)
Symbol
jak3 Nomenclature History
Previous Names
  • sb:eu418
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to enable growth hormone receptor binding activity and non-membrane spanning protein tyrosine kinase activity. Acts upstream of or within T cell differentiation in thymus and natural killer cell differentiation. Predicted to be located in cytoskeleton and membrane. Predicted to be active in cytosol. Is expressed in several structures, including eye; immune system; liver; male organism; and pleuroperitoneal region. Used to study severe combined immunodeficiency. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and severe combined immunodeficiency. Orthologous to human JAK3 (Janus kinase 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
fb102Allele with one delinsUnknownFrameshift, Premature StopTALEN
mdu9Allele with one insertionExon 13UnknownCRISPR
mdu10Allele with one deletionExon 13UnknownCRISPR
sa45312Allele with one point mutationUnknownSplice SiteENU
t25078Allele with one point mutationUnknownPremature StopENU
zf3237unknownUnknownUnknownnot specified
zf3747Allele with one MNVUnknownUnknownCRISPR
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Sequence Targeting Reagents
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Human Disease
Associated With jak3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
janus kinase-3 deficiency Alliance Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type 600802
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Associated With jak3 Via Experimental Models
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Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Domain IPR000299 FERM domain
Domain IPR000719 Protein kinase domain
Domain IPR000980 SH2 domain
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Domain Details Per Protein
Protein Additional Resources Length Band 4.1 domain FERM central domain FERM domain FERM F1 lobe ubiquitin-like domain JAK1-3/TYK2, pleckstrin homology-like domain JAK, FERM F2 lobe domain Janus Kinase (JAK) PH-like domain superfamily Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain SH2 domain SH2 domain superfamily Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, non-receptor Jak/Tyk2
UniProtKB:B0V237 InterPro 1103
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA jak3-201 (1) Ensembl 3,410 nt
mRNA jak3-203 (1) Ensembl 3,312 nt
mRNA jak3-204 (1) Ensembl 3,258 nt
ncRNA jak3-002 (1) Ensembl 563 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-205D4
EncodesESTeu418Thisse et al., 2005
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanJAK319
Conserved genome location (synteny) (1)
Amino acid sequence comparison (3)
MouseJak38
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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