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Aliases for JAK3 Gene

Aliases for JAK3 Gene

  • Janus Kinase 3 2 3 4
  • Leukocyte Janus Kinase 2 3 4
  • Tyrosine-Protein Kinase JAK3 2 3
  • EC 2.7.10.2 4 63
  • JAK-3 3 4
  • L-JAK 3 4
  • JAKL 3 6
  • Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte) 3
  • JAK3_HUMAN 3
  • EC 2.7.10 63
  • 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 immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related. Among its related pathways are PI3K-Akt signaling pathway and Signaling by GPCR. GO annotations related to this gene include protein tyrosine kinase activity and non-membrane spanning protein tyrosine kinase activity. An important paralog of this gene is TNK1.

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 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 (JAK1, JAK2, JAK3 and Tyk2), which share a similar protein domain structure: a kinase domain, a regulatory pseudo -kinase domain, a SH2 domain and a FERM domain. The FERM domain of JAK family members mediates the association of JAK with other enzymes and cytokine receptors. The JAK Tyk2 associates with the IFN-1, IL-6, 10, 12, and 23 cytokine receptor families. JAK1 mediates signals from IFN-alpha, beta, gamma and IL-2, 6 receptors. JAK2 transduces signals from the single chain and IL-3 cytokine receptor families, and from the IFN-gamma receptors. JAK3 associates with the IL-2 receptor gamma-chain.

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

Genomic Location for JAK3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for JAK3 Gene at MOPED

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:
Reactome Protein details:
REFSEQ proteins:

Domains for JAK3 Gene

Gene Families for JAK3 Gene

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 :
  • P52333
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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IBA --
GO:0005515 protein binding IPI 9045636
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with JAK3: view
genes like me logo Genes that share phenotypes with JAK3: view

Animal Models for JAK3 Gene

MGI Knock Outs for JAK3:

miRNA for JAK3 Gene

miRTarBase miRNAs that target JAK3

No data available for Transcription Factor Targeting 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 4
cytoskeleton 2
extracellular 2
nucleus 2
plasma membrane 2
endosome 1
peroxisome 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:0016020 membrane --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA --
genes like me logo Genes that share ontologies with JAK3: view

Pathways for JAK3 Gene

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

Gene Ontology (GO) - Biological Process for JAK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002731 negative regulation of dendritic cell cytokine production ISS --
GO:0006468 protein phosphorylation TAS 8022790
GO:0006954 inflammatory response IBA --
GO:0007167 enzyme linked receptor protein signaling pathway ISS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
genes like me logo Genes that share ontologies with JAK3: view

Compounds for JAK3 Gene

(36) ApexBio Compounds for JAK3 Gene

Compound Action Cas Number
1,2,3,4,5,6-Hexabromocyclohexane Potently and directly inhibits JAK2. [1837-91-8]
AZ 960 novel inhibitor of JAKs [905586-69-8]
AZD1480 novel small-molecule JAK inhibitor [935666-88-9]
Baricitinib (LY3009104, INCB028050) new selective orally bioavailable inhibitor of JAK1 or JAK2. [1187594-09-7]
Baricitinib phosphate selective orally bioavailable JAK1/JAK2 inhibitor [1187595-84-1]
BMS-911543 potent and selective inhibitor of JAK2. [1271022-90-2]
CEP-33779 highly selective, orally active inhibitor of JAK2 [1257704-57-6]
Cercosporamide Potent inhibitor of Mnk2 and JAK3. [131436-22-1]
Cucurbitacin I Selective inhibitor of STAT3/JAK2. [2222-7-3]
CYT387 potent and selective inhibitor of JAK1, JAK2,TYK2 [1056634-68-4]
CYT387 sulfate salt ATP-competitive small molecule JAK1/JAK2 inhibitor. [1056636-06-6]
JAK2 Inhibitor V, Z3 novel specific inhibitor of Jak2 tyrosine kinase. [195371-52-9]
JANEX-1 rationally designed novel JAK3 inhibitor. [202475-60-3]
Lestaurtinib Potent JAK2, FLT3 and TrkA inhibitor. [111358-88-4]
LY2784544 potent JAK2 inhibitor [1229236-86-5]
NSC 33994 Selective inhibitor of JAK2. [82058-16-0]
NVP-BSK805 potent inhibitior of JAK2(V617F) and JAK2 wild-type enzymes. [1092499-93-8]
NVP-BSK805 2HCl potent and selective ATP-competitive JAK2 inhibitor [1092499-93-8]
Pyridone 6 pan-JAK inhibitor [457081-03-7]
Ruxolitinib (INCB018424) specific inhibitor of JAK1 and JAK2 [941678-49-5]
Ruxolitinib phosphate orally bioavailable JAK inhibitor [1092939-17-7]
Ruxolitinib sulfate orally bioavailable JAK inhibitor [1092939-16-6]
SB1317 novel pyrimidine-based multi-kinase inhibitor that inhibits CDKs 1, 2, 7 and 9 together with JAK2 and FLT3 [937270-47-8]
SD 1008 JAK2/STAT3 signaling pathway inhibitor. [960201-81-4]
S-Ruxolitinib (INCB018424) potent and selective small-molecule JAK1 and JAK2 inhibitor. [941685-37-6]
TCS 21311 Potent JAK3 inhibitor. [1260181-14-3]
TG101209 JAK2 and 3 inhibitor, also inhibits Flt3 and RET [936091-14-4]
TG101348 (SAR302503) potent and selective inhibitor of JAK2. [936091-26-8]
Tofacitinib (CP-690550) Citrate potent inhibitor of JAK3 [540737-29-9]
Tofacitinib (CP-690550,Tasocitinib) novel oral JAK inhibitor. [477600-75-2]
WHI-P154 potent JAK3 inhibitor [211555-04-3]
WHI-P97 rationally designed potent inhibitor of JAK3. [211555-05-4]
WP1066 Cell permeable STAT3 inhibitor [857064-38-1]
XL019 potent and selective JAK2 inhibitor [945755-56-6]
ZM 39923 HCl JAK1/3 inhibitor [1021868-92-7]
ZM 449829 Potent, selective inhibitor of JAK3 [4452-6-6]

(5) Tocris Compounds for JAK3 Gene

Compound Action Cas Number
Atiprimod dihydrochloride JAK2 inhibitor [130065-61-1]
CP 690550 citrate Potent JAK inhibitor [540737-29-9]
Cucurbitacin I Selective inhibitor of STAT3/JAK2 signaling [2222-07-3]
Lestaurtinib JAK2, FLT3 and TrkA inhibitor [111358-88-4]
ZM 449829 Potent, selective JAK3 inhibitor [4452-06-6]

(2) HMDB Compounds for JAK3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(30) Novoseek inferred chemical compound relationships for JAK3 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 82 139
[alcl] 55.9 3
leflunomide 41.9 4
propanil 40.5 1
phosphatidylinositol 35.7 1
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:

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 (25.6) and Spleen (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for JAK3 Gene

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 expressions 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 35
  • 99.67 (n)
  • 99.73 (a)
JAK3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia JAK3 35
  • 87.3 (n)
  • 89.94 (a)
JAK3 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAK3 35
  • 88.1 (n)
  • 89.75 (a)
JAK3 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jak3 35
  • 80.12 (n)
  • 83.73 (a)
Jak3 16
Jak3 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia JAK3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia JAK3 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jak3 35
  • 80 (n)
  • 82.73 (a)
chicken
(Gallus gallus)
Aves JAK3 35
  • 66.94 (n)
  • 61.54 (a)
JAK3 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia jak3 35
  • 57.94 (n)
  • 54.38 (a)
zebrafish
(Danio rerio)
Actinopterygii jak3 35
  • 58.09 (n)
  • 52.16 (a)
jak3 36
  • 50 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for JAK3:
  • 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

Selected 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 MAF
rs3008 -- 17,826,620(-) CCCCA(C/T)GACAT utr-variant-3-prime
rs11888 -- 17,824,817(+) AAACA(C/T)TTCCA utr-variant-3-prime
rs867174 -- 17,842,121(+) CGCTC(A/G)GCCCA intron-variant
rs916017 -- 17,844,330(-) TGCTG(C/T)TGCCC reference, synonymous-codon, nc-transcript-variant
rs916018 -- 17,844,298(-) CAGCG(A/C)CTATC synonymous-codon, reference, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv50n68 CNV Loss 17160897
nsv911209 CNV Loss 21882294
dgv3764n71 CNV Loss 21882294
nsv911214 CNV Loss 21882294
nsv911219 CNV Loss 21882294
nsv911220 CNV Loss 21882294
nsv911221 CNV Loss 21882294
dgv3766n71 CNV Loss 21882294
nsv911225 CNV Loss 21882294

Relevant External Links for JAK3 Gene

HapMap Linkage Disequilibrium report
JAK3
Human Gene Mutation Database (HGMD)
JAK3
Locus Specific Mutation Databases (LSDB)
JAK3

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

Disorders for JAK3 Gene

(1) OMIM Diseases for JAK3 Gene (600173)

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.

(39) Novoseek inferred disease relationships for JAK3 Gene

Disease -log(P) Hits PubMed IDs
severe combined immunodeficiency 84.2 33
severe combined immunodeficiency, x-linked 82.8 6
megakaryoblastic leukemia acute 72.7 9
myeloproliferative disorders 62.7 6
polycythemia vera 52.6 1

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
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 23
  2. Structural and functional basis for JAK3-deficient severe combined immunodeficiency. (PMID: 9354668) Candotti F. … Villa A. (Blood 1997) 3 4 23
  3. Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7. (PMID: 7535338) Musso T. … McVicar D.W. (J. Exp. Med. 1995) 3 4 23
  4. A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. (PMID: 7559633) Lai K.S. … Liu E.T. (J. Biol. Chem. 1995) 3 4 23
  5. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). (PMID: 7659163) Macchi P. … Notarangelo L.D. (Nature 1995) 3 4 23

Products for JAK3 Gene

  • Addgene plasmids for JAK3

Sources for JAK3 Gene

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