JAK3 Gene (Protein Coding)

Janus Kinase 3

GC19M017824
GIFtS:
52
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal ... See more...

Aliases for JAK3 Gene

Aliases for JAK3 Gene

  • Janus Kinase 3 2 3 4 5
  • Tyrosine-Protein Kinase JAK3 2 3 4
  • Leukocyte Janus Kinase 2 3 4
  • JAK-3 2 3 4
  • L-JAK 2 3 4
  • EC 2.7.10.2 4 50
  • JAK3_HUMAN 2 3
  • JAKL 2 3
  • LJAK 2 3
  • Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) 3
  • EC 2.7.10 50
  • JAK3 5

External Ids for JAK3 Gene

Previous GeneCards Identifiers for JAK3 Gene

  • GC19M018430
  • GC19M018328
  • GC19M017780
  • GC19M017797
  • GC19M017789
  • GC19M017790
  • GC19M017935
  • GC19M017500

Summaries for JAK3 Gene

Entrez Gene Summary for JAK3 Gene

  • The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]

CIViC Summary for JAK3 Gene

GeneCards Summary for JAK3 Gene

JAK3 (Janus Kinase 3) is a Protein Coding gene. Diseases associated with JAK3 include Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative and Nk-Cell Enteropathy. Among its related pathways are RET signaling and IL10 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is JAK2.

UniProtKB/Swiss-Prot Summary for JAK3 Gene

  • Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion.

Tocris Summary for JAK3 Gene

  • JAKs (or Janus kinases) are a family of tyrosine kinases that are associated with cytokine receptors. Upon receptor activation JAKs phosphorylate the transcription factors known as STATs and initiate the JAK-STAT signaling pathway. Four JAK family members have been identified.

Gene Wiki entry for JAK3 Gene

Additional gene information for JAK3 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JAK3 Gene

Genomics for JAK3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for JAK3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAK3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAK3

Top Transcription factor binding sites by QIAGEN in the JAK3 gene promoter:
  • AP-1
  • ATF-2
  • MyoD
  • Sp1
  • STAT5B

Genomic Locations for JAK3 Gene

Latest Assembly
chr19:17,824,780-17,848,071
(GRCh38/hg38)
Size:
23,292 bases
Orientation:
Minus strand

Previous Assembly
chr19:17,935,591-17,958,791
(GRCh37/hg19 by Entrez Gene)
Size:
23,201 bases
Orientation:
Minus strand

chr19:17,935,589-17,958,880
(GRCh37/hg19 by Ensembl)
Size:
23,292 bases
Orientation:
Minus strand

Genomic View for JAK3 Gene

Genes around JAK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAK3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for JAK3 Gene

Proteins for JAK3 Gene

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  • Protein details for JAK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52333-JAK3_HUMAN
    Recommended name:
    Tyrosine-protein kinase JAK3
    Protein Accession:
    P52333
    Secondary Accessions:
    • Q13259
    • Q13260
    • Q13611
    • Q8N1E8
    • Q99699
    • Q9Y6S2

    Protein attributes for JAK3 Gene

    Size:
    1124 amino acids
    Molecular mass:
    125099 Da
    Quaternary structure:
    • Interacts with STAM2 and MYO18A (By similarity). Interacts with SHB.
    SequenceCaution:
    • Sequence=AAC50227.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS. Was erroneously described as an isoform JAK3M while it is a fragmentary mRNA of INSL3.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: May be inactive as it lacks some part of the kinase domain.

    Three dimensional structures from OCA and Proteopedia for JAK3 Gene

    Alternative splice isoforms for JAK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAK3 Gene

Protein Expression for JAK3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for JAK3 Gene

P52333:
  • RDLAARN
  • PFIKLSDPG
  • ASLMSQVS
  • SDVWSFGVVLYELFTY
  • QICKGMEYLG
  • TEVLLKV
  • LYRIRFYFP
  • FEERHLK
  • SPIFWYAPESL

Post-translational modifications for JAK3 Gene

  • Tyrosine phosphorylated in response to IL-2 and IL-4. Dephosphorylation of Tyr-980 and Tyr-981 by PTPN2 negatively regulates cytokine-mediated signaling (Probable).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for JAK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for JAK3 Gene

Gene Families for JAK3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for JAK3 Gene

InterPro:
Blocks:
  • Tyrosine protein kinase, active site
  • Janus kinase family signature

Suggested Antigen Peptide Sequences for JAK3 Gene

GenScript: Design optimal peptide antigens:
  • Leukocyte janus kinase (JAK3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52333

UniProtKB/Swiss-Prot:

JAK3_HUMAN :
  • Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity), while the presence of slight differences suggest a different role for domain 1.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
Domain:
  • Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity), while the presence of slight differences suggest a different role for domain 1.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
genes like me logo Genes that share domains with JAK3: view

Function for JAK3 Gene

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Molecular function for JAK3 Gene

UniProtKB/Swiss-Prot Function:
Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
GENATLAS Biochemistry:
Janus tyrosine kinase 3,non receptor type,class III ,cytosolic,tightly linked with INSL3 locus,expressed in natural killer cells and other activated leukocytes,associating primarily with IL receptors common gamma chain,involved in their signal transduction,also critical for lymphoid development,also potential modulator of CD40 (TNFRSF5) signaling

Enzyme Numbers (IUBMB) for JAK3 Gene

Phenotypes From GWAS Catalog for JAK3 Gene

Gene Ontology (GO) - Molecular Function for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity ISS,TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA --
GO:0005515 protein binding IPI 9045636
genes like me logo Genes that share ontologies with JAK3: view
genes like me logo Genes that share phenotypes with JAK3: view

Human Phenotype Ontology for JAK3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAK3 Gene

MGI Knock Outs for JAK3:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAK3

No data available for Transcription Factor Targets and HOMER Transcription for JAK3 Gene

Localization for JAK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAK3 Gene

Endomembrane system. Peripheral membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAK3 gene
Compartment Confidence
plasma membrane 5
cytosol 5
endosome 4
extracellular 3
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome TAS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with JAK3: view

Pathways & Interactions for JAK3 Gene

PathCards logo

SuperPathways for JAK3 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
IL-21 Signaling Pathways
.90
IL-7 Signaling Pathways
.90
IL-9 Signaling Pathways
.90
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.90
IL-15 Signaling Pathways
.88
IL-2 Signaling Pathways
.88
IL-4 Signaling Pathways
.84
Immune response IL-9 signaling pathway
.42
IL-9 Pathway
.36
3 Th17 cell differentiation
Th1 and Th2 cell differentiation
.55
Th17 cell differentiation
.55
Immune response IL-22 signaling pathway
.36
4 IL-2 Pathway
ErbB2-ErbB3 Heterodimers
.49
IL-2 Pathway
.48
IL-4 Pathway
.34
5 G beta-gamma signalling through PI3Kgamma
G beta-gamma signalling through PI3Kgamma
.94
G-protein beta-gamma signalling
.94
GPVI-mediated activation cascade
.44
genes like me logo Genes that share pathways with JAK3: view

Pathways by source for JAK3 Gene

5 GeneGo (Thomson Reuters) pathways for JAK3 Gene
  • Cytokine production by Th17 cells in CF (Mouse model)
  • Immune response IL-2 activation and signaling pathway
  • Immune response IL-22 signaling pathway
  • Immune response IL-4 signaling pathway
  • Immune response IL-9 signaling pathway
16 Qiagen pathways for JAK3 Gene
  • CD40 Signaling
  • ErbB2-ErbB3 Heterodimers
  • IL-2 Pathway
  • IL-4 Pathway
  • IL-6 Pathway
1 Cell Signaling Technology pathway for JAK3 Gene
2 GeneTex pathways for JAK3 Gene

SIGNOR curated interactions for JAK3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002731 negative regulation of dendritic cell cytokine production ISS --
GO:0006468 protein phosphorylation TAS 8022790
genes like me logo Genes that share ontologies with JAK3: view

Drugs & Compounds for JAK3 Gene

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(62) Drugs for JAK3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tofacitinib Approved, Investigational Pharma Target, inhibitor 193
Baricitinib Approved, Investigational Pharma Target, inhibitor 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ruxolitinib Approved Pharma Target, inhibitor Kinase Inhibitors 0
Zanubrutinib Approved, Investigational Pharma Target, inhibitor 51

(13) Additional Compounds for JAK3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0

(3) Tocris Compounds for JAK3 Gene

Compound Action Cas Number
AZD 1480 Potent and selective JAK2 inhibitor; antiangiogenic 935666-88-9
TCS 21311 Potent JAK3 inhibitor. Also inhibits GSK-3beta and PKC 1260181-14-3
WHI-P 154 JAK3 kinase inhibitor. Also inhibits EGFR 211555-04-3

(23) ApexBio Compounds for JAK3 Gene

Compound Action Cas Number
AT9283 Aurora kinase/JAK inhibitor 896466-04-9
AZ 960 JAKs inhibitor 905586-69-8
Bardoxolone methyl IKK inhibitor, potent antioxidant inflammation modulator 218600-53-4
Cercosporamide Mnk2 and JAK3 inhibitor 131436-22-1
Cerdulatinib Syk/JAK inhibitor 1198300-79-6
Decernotinib(VX-509) Selective and orally active JAK3 inhibitor 944842-54-0
GLPG0634 JAK1 inhibitor 1206161-97-8
GSK-3 Inhibitor IX (BIO) 667463-62-9
JANEX-1 JAK3 inhibitor 202475-60-3
NVP-BSK805 ATP-competitive JAK2 inhibitor 1092499-93-8
Peficitinb (ASP015K, JNJ-54781532) JAK inhibitor 944118-01-8
Pyridone 6 Pan-JAK inhibitor 457081-03-7
Ruxolitinib (INCB018424) JAK inhibitor 941678-49-5
S-Ruxolitinib (INCB018424) JAK1/2 inhibitor,potent and selective 941685-37-6
TCS 21311 JAK3 inhibitor 1260181-14-3
TG101209 JAK2/3 inhibitor 936091-14-4
Tofacitinib (CP-690550) Citrate Potent JAK inhibitor 540737-29-9
Tofacitinib (CP-690550,Tasocitinib) Janus kinase inhibitor 477600-75-2
WHI-P154 JAK3 inhibitor 211555-04-3
WHI-P180 EGFR/Janus Kinase 3 inhibitor 211555-08-7
WHI-P97 Janus kinase (JAK)-3 inhibitor 211555-05-4
ZM 39923 HCl JAK3 inhibitor,potent and selective 1021868-92-7
ZM 449829 JAK3 inhibitor 4452-06-6
genes like me logo Genes that share compounds with JAK3: view

Transcripts for JAK3 Gene

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mRNA/cDNA for JAK3 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAK3

Alternative Splicing Database (ASD) splice patterns (SP) for JAK3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:

ExUns: 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b · 26c
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6: - -
SP7: -

Relevant External Links for JAK3 Gene

GeneLoc Exon Structure for
JAK3

Expression for JAK3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for JAK3 Gene

mRNA expression in normal human tissues for JAK3 Gene
mRNA expression by BioGPS for JAK3 GenemRNA expression by GTEx for JAK3 Gene

mRNA differential expression in normal tissues according to GTEx for JAK3 Gene

This gene is overexpressed in Whole Blood (x25.6) and Spleen (x5.6).

Protein differential expression in normal tissues from HIPED for JAK3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.1) and Lymph node (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for JAK3 Gene



Protein tissue co-expression partners for JAK3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for JAK3

SOURCE GeneReport for Unigene cluster for JAK3 Gene:

Hs.515247

mRNA Expression by UniProt/SwissProt for JAK3 Gene:

P52333-JAK3_HUMAN
Tissue specificity: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic and epithelial origins.

Evidence on tissue expression from TISSUES for JAK3 Gene

  • Blood(4.6)
  • Nervous system(4.4)
  • Intestine(2.9)
  • Spleen(2.7)
  • Bone marrow(2.3)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for JAK3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • head
  • larynx
  • meninges
  • neck
  • pharynx
Thorax:
  • lung
  • trachea
Abdomen:
  • intestine
  • large intestine
  • small intestine
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with JAK3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for JAK3 Gene

Orthologs for JAK3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for JAK3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia JAK3 29 30
  • 99.67 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia JAK3 29 30
  • 88.1 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia JAK3 29 30
  • 87.3 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Jak3 29 16 30
  • 80.12 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Jak3 29
  • 80 (n)
Oppossum
(Monodelphis domestica)
 Mammalia JAK3 30
  • 65 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia JAK3 30
  • 60 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves JAK3 29 30
  • 66.94 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia jak3 29
  • 57.94 (n)
Zebrafish
(Danio rerio)
 Actinopterygii jak3 29 30
  • 58.09 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 37 (a)
 OneToMany
Species where no ortholog for JAK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for JAK3 Gene

ENSEMBL:
Gene Tree for JAK3 (if available)
TreeFam:
Gene Tree for JAK3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for JAK3: view image
Alliance of Genome Resources:
Additional Orthologs for JAK3

Paralogs for JAK3 Gene

Paralogs for JAK3 Gene

(3) SIMAP similar genes for JAK3 Gene using alignment to 2 proteins:

  • JAK3_HUMAN
  • Q8N1E8_HUMAN
genes like me logo Genes that share paralogs with JAK3: view

Variants for JAK3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAK3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1003603 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,837,961(-) T/C
NM_000215.4(JAK3):c.1672A>G (p.Met558Val) 		MISSENSE
1003727 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,842,540(-) T/G
NM_000215.4(JAK3):c.637A>C (p.Ile213Leu) 		MISSENSE
1004560 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,844,356(-) G/A
NM_000215.4(JAK3):c.62C>T (p.Thr21Met) 		MISSENSE
1006192 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,835,206(-) C/G
NM_000215.4(JAK3):c.1924G>C (p.Gly642Arg) 		MISSENSE
1006935 Uncertain Significance: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,844,308(-) G/C
NM_000215.4(JAK3):c.110C>G (p.Pro37Arg) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JAK3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for JAK3 Gene

Variant ID Type Subtype PubMed ID
dgv50n68 CNV loss 17160897

Variation tolerance for JAK3 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.70; 57.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for JAK3 Gene

Human Gene Mutation Database (HGMD)
JAK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAK3
Leiden Open Variation Database (LOVD)
JAK3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAK3 Gene

Disorders for JAK3 Gene

MalaCards: The human disease database

(48) MalaCards diseases for JAK3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
  • scid, t cell-negative, b cell-positive, nk cell-negative
nk-cell enteropathy
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
myeloproliferative neoplasm
  • chronic myeloproliferative disease
acute megakaryocytic leukemia
  • megakaryocytic myelosis
- elite association - COSMIC cancer census association via MalaCards
Search JAK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

JAK3_HUMAN
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269 PubMed:10982185, ECO:0000269 PubMed:14615376, ECO:0000269 PubMed:7659163, ECO:0000269 PubMed:9354668, ECO:0000269 PubMed:9753072}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for JAK3 Gene

immunodeficiency,severe,combined,with decreased T and NK cells and normal B cells (T-B+NK-)

Additional Disease Information for JAK3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with JAK3: view

Publications for JAK3 Gene

  1. Genomic sequence, organization, and chromosomal localization of human JAK3. (PMID: 8921370) Riedy MC ā€¦ Johnston JA (Genomics 1996) 2 3 4 22
  2. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). (PMID: 7659163) Macchi P ā€¦ O'Shea JJ (Nature 1995) 3 4 22 72
  3. Janus kinases in immune cell signaling. (PMID: 19290934) Ghoreschi K ā€¦ O'Shea JJ (Immunological reviews 2009) 3 4 22
  4. Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients. (PMID: 19282076) Sperati CJ ā€¦ Kao WH (American journal of kidney diseases : the official journal of the National Kidney Foundation 2009) 3 22 40
  5. Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. (PMID: 18559588) Jeong EG ā€¦ Lee SH (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 72

ExternalLinks

View latest publications for JAK3 gene in Mastermind

Products for JAK3 Gene

  • Addgene plasmids for JAK3

Sources for JAK3 Gene