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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 61
  • JAK-3 3 4
  • L-JAK 3 4
  • Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) 3
  • JAK3_HUMAN 3
  • EC 2.7.10 61
  • 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]

GeneCards Summary for JAK3 Gene

JAK3 (Janus Kinase 3) is a Protein Coding gene. Diseases associated with JAK3 include Scid, Autosomal Recessive, T-Negative/B-Positive Type and Severe Combined Immunodeficiency, B Cell-Negative. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and NFAT and Cardiac Hypertrophy. 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAK3 Gene

Genomics for JAK3 Gene

Regulatory Elements for JAK3 Gene

Enhancers for JAK3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around JAK3 on UCSC Golden Path with GeneCards custom track

Promoters for JAK3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around JAK3 on UCSC Golden Path with GeneCards custom track

Genomic Location for JAK3 Gene

Chromosome:
19
Start:
17,824,780 bp from pter
End:
17,848,071 bp from pter
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 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

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

IUPHAR :

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.
  • Contains 1 FERM domain.
  • Contains 2 protein kinase domains.
  • Contains 1 SH2 domain.
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

Gene Ontology (GO) - Molecular Function for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IBA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding IBA --
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 Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAK3

Flow Cytometry Products

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
Jensen Localization Image for JAK3 Gene COMPARTMENTS Subcellular localization image for JAK3 gene
Compartment Confidence
cytosol 5
plasma membrane 4
cytoskeleton 3
nucleus 3
extracellular 2
endosome 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0012505 endomembrane system IEA --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA --
genes like me logo Genes that share ontologies with JAK3: view

Pathways & Interactions for JAK3 Gene

SuperPathways for JAK3 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 IL-7 Signaling Pathways
3 IL-2 Pathway
4 G beta-gamma signalling through PI3Kgamma
5 Signaling by GPCR
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:0002731 negative regulation of dendritic cell cytokine production ISS --
GO:0006468 protein phosphorylation TAS 8022790
GO:0007167 enzyme linked receptor protein signaling pathway ISS --
genes like me logo Genes that share ontologies with JAK3: view

Drugs & Compounds for JAK3 Gene

(66) 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 98
Adenosine triphosphate Approved Nutra 0
2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE Experimental Pharma Target 0
3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile Experimental Pharma Target 0
AT9283 Investigational Pharma inhibitor Aurora kinase/JAK inhibitor, Kinase Inhibitors, Inhibitors of mitosis Aurora kinase inhibitors 0

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

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
CP 690550 citrate
540737-29-9

(5) Tocris Compounds for JAK3 Gene

Compound Action Cas Number
AZD 1480 Potent and selective JAK2 inhibitor; antiangiogenic 935666-88-9
Cercosporamide Potent Mnk2 inhibitor 131436-22-1
CP 690550 citrate Potent JAK inhibitor 540737-29-9
Lestaurtinib JAK2, FLT3 and TrkA inhibitor 111358-88-4
TCS 21311 Potent JAK3 inhibitor. Also inhibits GSK-3beta and PKC 1260181-14-3

(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

Transcripts for JAK3 Gene

Unigene Clusters for JAK3 Gene

Janus kinase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAK3

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with JAK3: view

Primer Products

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
cow
(Bos Taurus)
Mammalia JAK3 34
  • 87.3 (n)
  • 89.94 (a)
JAK3 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAK3 34
  • 88.1 (n)
  • 89.75 (a)
JAK3 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jak3 34
  • 80.12 (n)
  • 83.73 (a)
Jak3 16
Jak3 35
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JAK3 34
  • 99.67 (n)
  • 99.73 (a)
JAK3 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jak3 34
  • 80 (n)
  • 82.73 (a)
oppossum
(Monodelphis domestica)
Mammalia JAK3 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAK3 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAK3 34
  • 66.94 (n)
  • 61.54 (a)
JAK3 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jak3 34
  • 57.94 (n)
  • 54.38 (a)
zebrafish
(Danio rerio)
Actinopterygii jak3 34
  • 58.09 (n)
  • 52.16 (a)
jak3 35
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs137852624 - 17,843,786(-) GCTGT(A/G)CAGGA nc-transcript-variant, reference, missense
rs55778349 - 17,843,141(+) CCACG(C/G)GGAGG nc-transcript-variant, reference, missense
VAR_010493 -
rs193922361 - 17,837,171(-) CGTAC(C/T)GGCAT nc-transcript-variant, reference, missense
rs3213409 - 17,834,887(-) GTGGC(A/G)TCACC nc-transcript-variant, reference, missense

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)

Relevant External Links 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

(18) MalaCards diseases for JAK3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
scid, autosomal recessive, t-negative/b-positive type
  • t-b+ severe combined immunodeficiency due to jak3 deficiency
severe combined immunodeficiency, b cell-negative
  • severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related
  • scid, autosomal recessive
severe combined immunodeficiency
  • adenosine deaminase deficiency
severe combined immune deficiency
  • severe combined immunodeficiency
- 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-)

Relevant External Links for JAK3

Genetic Association Database (GAD)
JAK3
Human Genome Epidemiology (HuGE) Navigator
JAK3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAK3
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 M.C. … Johnston J.A. (Genomics 1996) 2 3 4 22 65
  2. Association of single-nucleotide polymorphisms in JAK3, STAT4, and STAT6 with new cardiovascular events in incident dialysis patients. (PMID: 19282076) Sperati C.J. … Kao W.H. (Am. J. Kidney Dis. 2009) 3 22 46 65
  3. Phosphorylation of human Jak3 at tyrosines 904 and 939 positively regulates its activity. (PMID: 18250158) Cheng H. … Kirken R.A. (Mol. Cell. Biol. 2008) 3 4 22 65
  4. Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. (PMID: 14615376) Roberts J.L. … Buckley R.H. (Blood 2004) 3 4 22 65
  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. (J. Biol. Chem. 2002) 3 4 22 65

Products for JAK3 Gene

  • Addgene plasmids for JAK3

Sources for JAK3 Gene

Content