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Aliases for JAK3 Gene

Aliases for JAK3 Gene

  • Janus Kinase 3 2 3 4 5
  • Leukocyte Janus Kinase 2 3 4
  • Tyrosine-Protein Kinase JAK3 2 3
  • EC 2.7.10.2 4 56
  • JAK-3 3 4
  • L-JAK 3 4
  • Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) 3
  • JAK3_HUMAN 3
  • EC 2.7.10 56
  • JAKL 3
  • LJAK 3

External Ids for JAK3 Gene

Previous GeneCards Identifiers for JAK3 Gene

  • GC19M018430
  • GC19M018328
  • GC19M017780
  • GC19M017797
  • GC19M017789
  • 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 Jak3-Deficient Severe Combined Immunodeficiency. Among its related pathways are RET signaling and Cytokine Signaling in Immune system. 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 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 , fRNAdb sequence ontologies and piRNA Summary for JAK3 Gene

Genomics for JAK3 Gene

GeneHancer (GH) Regulatory Elements for JAK3 Gene

Promoters and enhancers for JAK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I017845 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 563.7 -0.8 -804 6.2 HDGF PKNOX1 ARID4B DMAP1 SLC30A9 GTF3C2 ZNF207 ZNF143 RUNX3 ZHX2 JAK3 FCHO1 B3GNT3 INSL3 UNC13A RPL18A MAST3 FAM129C IL12RB1 ARRDC2
GH19I018086 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.2 -241.2 -241244 5.9 HDGF PKNOX1 ZNF493 ZFP64 IRF4 ZNF48 TCF12 ZNF121 ZNF766 ZNF213 IL12RB1 ENSG00000268030 UPF1 IQCN GTPBP3 SUGP2 ENSG00000268938 ENSG00000269191 LOC100507551 ELL
GH19I018289 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -444.2 -444165 6.1 YBX1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D NR2C2AP ENSG00000268030 IQCN SUGP2 UPF1 COLGALT1 ENSG00000268938 MVB12A MEF2B ENSG00000269191
GH19I018012 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.8 -168.2 -168176 6.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 ZNF121 ATF7 IFI30 ARRDC2 JAK3 COMP JUND FCHO1 IL12RB1 LRRC25 MAP1S ENSG00000279172
GH19I018300 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -456.4 -456434 8.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B DMAP1 ZBTB7B YY1 SLC30A9 ENSG00000268030 UPF1 IQCN ENSG00000268938 NR2C2AP MEF2B JUND LSM4 COLGALT1 ENSG00000269191
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around JAK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the JAK3 gene promoter:

Genomic Locations for JAK3 Gene

Genomic Locations for JAK3 Gene
chr19:17,824,780-17,848,071
(GRCh38/hg38)
Size:
23,292 bases
Orientation:
Minus strand
chr19:17,935,589-17,958,880
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for JAK3 Gene

Proteins for JAK3 Gene

  • 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};

    Three dimensional structures from OCA and Proteopedia for JAK3 Gene

    Alternative splice isoforms for JAK3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for JAK3 Gene

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).

Other Protein References for JAK3 Gene

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

Suggested Antigen Peptide Sequences for JAK3 Gene

GenScript: Design optimal peptide antigens:

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

Molecular function for JAK3 Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
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.

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 TAS,ISS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IBA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
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:

Clone Products

  • Addgene plasmids 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
cytosol 5
plasma membrane 4
endosome 4
cytoskeleton 3
nucleus 3
extracellular 2
peroxisome 1

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:0012505 endomembrane system IEA --
genes like me logo Genes that share ontologies with JAK3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for JAK3 Gene

Pathways & Interactions for JAK3 Gene

SuperPathway Contained pathways
1 RET signaling
2 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
3 Th17 cell differentiation
4 IL-2 Pathway
5 G beta-gamma signalling through PI3Kgamma
genes like me logo Genes that share pathways with JAK3: view

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

(65) 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 112
2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE Experimental Pharma Target 0
AT9283 Investigational Pharma inhibitor Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors 0
Fedratinib Investigational Pharma 0
Momelotinib Investigational Pharma Inhibitor Epidermal growth factor receptor (EGFR) inhibitors 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 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

(29) ApexBio Compounds for JAK3 Gene

Compound Action Cas Number
(3R,4S)-Tofacitinib 1092578-46-5
(3S,4R)-Tofacitinib 1092578-48-7
(3S,4S)-Tofacitinib 1092578-47-6
AG-490 (Tyrphostin B42) EGFR/JAK2/JAK3 inhibitor 133550-30-8
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
Ruxolitinib sulfate JAK inhibitor 1092939-16-6
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-P180 hydrochloride inhibitor of Cdk2, EGFR and Janus Kinase 3 153437-55-9
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

Drug Products

Transcripts for JAK3 Gene

Unigene Clusters for JAK3 Gene

Janus kinase 3:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
JAK3

Expression for JAK3 Gene

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



Protein tissue co-expression partners for JAK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of JAK3 Gene:

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(4.2)
  • Intestine(2.3)
  • Spleen(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

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 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia JAK3 33 34
  • 88.1 (n)
cow
(Bos Taurus)
Mammalia JAK3 33 34
  • 87.3 (n)
mouse
(Mus musculus)
Mammalia Jak3 33 16 34
  • 80.12 (n)
rat
(Rattus norvegicus)
Mammalia Jak3 33
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia JAK3 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAK3 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAK3 33 34
  • 66.94 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia jak3 33
  • 57.94 (n)
zebrafish
(Danio rerio)
Actinopterygii jak3 33 34
  • 58.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToMany
Species where no ortholog for JAK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for JAK3 Gene

Paralogs for JAK3 Gene

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

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

Variants for JAK3 Gene

Sequence variations from dbSNP and Humsavar for JAK3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1032730913 uncertain-significance, Severe Combined Immune Deficiency 17,825,212(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1039181282 uncertain-significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 17,844,337(-) A/C/T coding_sequence_variant, missense_variant
rs1048360758 uncertain-significance, Severe Combined Immune Deficiency 17,825,758(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057519770 likely-pathogenic, Leukemoid Reaction, Acute megakaryoblastic leukemia 17,843,825(-) A/G coding_sequence_variant, missense_variant
rs1057520020 likely-pathogenic, Severe combined immunodeficiency disease 17,834,908(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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

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

Disorders for JAK3 Gene

MalaCards: The human disease database

(19) MalaCards diseases for JAK3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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
jak3-deficient severe combined immunodeficiency
  • autosomal recessive t cell-negative, b cell-positive, nk cell-negative severe combined immunodeficiency
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
janus kinase-3 deficiency
  • janus kinase 3
severe combined immunodeficiency, x-linked
  • scidx1
- 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 mutations 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Johnston JA (Genomics 1996) 2 3 4 22 58
  2. Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients. (PMID: 19282076) Sperati CJ … Kao WH (American journal of kidney diseases : the official journal of the National Kidney Foundation 2009) 3 22 44 58
  3. Phosphorylation of human Jak3 at tyrosines 904 and 939 positively regulates its activity. (PMID: 18250158) Cheng H … Kirken RA (Molecular and cellular biology 2008) 3 4 22 58
  4. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. (PMID: 14615376) Roberts JL … Buckley RH (Blood 2004) 3 4 22 58
  5. The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. (PMID: 12351625) Saharinen P … Silvennoinen O (The Journal of biological chemistry 2002) 3 4 22 58

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