JAK3 Gene
protein-coding GIFtS: 72
GCID: GC19M017935
|
|
Janus kinase 3
| |
Aliases
for JAK3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Janus Kinase 31 2 3 | | Leukocyte Janus Kinase2 3 | | JAK-31 2 3 | | EC 2.7.10.23 8 | | L-JAK1 2 3 | | Janus Kinase 3 (A Protein Tyrosine Kinase, Leukocyte)2 | | JAKL1 2 5 | | Tyrosine-Protein Kinase JAK32 | | JAK3_HUMAN1 2 | | EC 2.7.108 | | LJAK1 2 | | |
Export aliases for JAK3 gene to outside databasesPrevious GC identifers: GC19M018430 GC19M018328 GC19M017780 GC19M017797 GC19M017789 GC19M017790 GC19M017500 |
Summaries
for JAK3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for JAK3:
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokinereceptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces asignal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene areassociated with autosomal SCID (severe combined immunodeficiency disease). (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333Function: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, ordifferentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role inhematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via itsassociation 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 tailsof the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once theyare recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleusto 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 theircytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Onceactivated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in acytokine-specific fashion
 summary
for JAK3: 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 (Janus kinase 3)
|
Genomic Views
for JAK3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011295.11
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the JAK3 gene promoter:
STAT5B Sp1 AP-1 ATF-2 MyoD
Other transcription factors
Search SABiosciences Chromatin IP Primers for JAK3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JAK3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.1 Ensembl cytogenetic band: 19p13.11 HGNC cytogenetic band: 19p13-p12JAK3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M017935: view genomic region
(about GC identifiers)
Start:
|
17,935,589 bp from pter |
End:
|
17,958,880 bp from pter |
Size:
|
23,292 bases |
Orientation:
|
minus strand |
|
Proteins
for JAK3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333 (See
protein sequence)Recommended Name: Tyrosine-protein kinase JAK3 Size: 1124 amino acids; 125099 Da
Subunit: Interacts with STAM2 and MYO18A (By similarity). Interacts with SHB
Subcellular location: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm (By similarity)
Sequence caution: Sequence=AAC50227.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS. Was erroneouslydescribed as an isoform JAK3M while it is a fragmentary mRNA of INSL3;
6/8 PDB 3D structures from  and Proteopedia  for JAK3 (see all 8):1YVJ (3D)
3LXK (3D)
3LXL (3D)
3PJC (3D)
4HVD (3D)
4HVG (3D)
Secondary accessions: Q13259 Q13260 Q13611 Q99699 Q9Y6S2Alternative splicing: 2 isoforms: P52333-1 P52333-2 (May be inactive as it lacks some part of the kinase domain)Explore the universe of human proteins at neXtProt for JAK3: NX_P52333
Post-translational modifications:
Tyrosine phosphorylated in response to IL-2 and IL-41
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P52333
4/9 DME Specific Peptides for JAK3 (P52333) (see all 9)
JAK3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000206.2
ENSEMBL proteins: ENSP00000432511 ENSP00000436421 ENSP00000391676 Reactome Protein details: P52333
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
JAK3 for ontologies About GeneDecksing
JAK3 Antibody Products:
Assay Products for JAK3: |
Protein
Domains /
Families
for JAK3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
JAK3 for domains About GeneDecksing
5/11 InterPro domains/families (see all 11):Graphical View of Domain Structure for InterPro Entry P52333ProtoNet protein and cluster: P52333 2 Blocks protein families: IPB008266 Tyrosine protein kinase IPB009127 Janus kinase family signature
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333Domain: Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (Bysimilarity), while the presence of slight differences suggest a different role for domain 1Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamilySimilarity: Contains 1 FERM domainSimilarity: Contains 2 protein kinase domainsSimilarity: Contains 1 SH2 domain |
Function
for JAK3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333Function: Non-receptor tyrosine kinase involved in various processes such as cell growth, development, ordifferentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role inhematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via itsassociation 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 tailsof the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once theyare recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleusto 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 theircytoplasmic domain. Then, STAT5A AND STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Onceactivated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in acytokine-specific fashionCatalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate Genatlas biochemistry entry for JAK3:Janus tyrosine kinase 3,non receptor type,class III ,cytosolic,tightly linked with INSL3 locus,expressed in naturalkiller cells and other activated leukocytes,associating primarily with IL receptors common gamma chain,involved intheir signal transduction,also critical for lymphoid development,also potential modulator of CD40 (TNFRSF5) signaling
Enzyme Numbers (IUBMB): EC 2.7.10.21 2 EC 2.7.102
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JAK3 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JAK3 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: JAK3 (NM_000215) | |  | Sino Biological Human cDNA Clone for JAK3 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for JAK3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAK3 |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
JAK3 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for JAK3:
Animal Models:
Mouse knock-outs for JAK3: Jak3tm1Jni Jak3tm1Tks Jak3tm1Ljb Jak3tm1Flv
5 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Jak3):
JAK3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for JAK3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/35 super-pathways (see all 35) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | IL-9 Signaling Pathways | | | 2 | Interleukin receptor SHC signaling | | | 3 | ErbB4 Pathway | | | 4 | Immune response_IL-4 signaling pathway | | | 5 | Pyk2 is activated following IL2 stimulation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
4 EMD Millipore Pathways for JAK3
5/8  R&D Systems Pathways for JAK3 (see all 8)
5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JAK3 (see all 16)
1 
Cell Signaling Technology (CST) Pathway for JAK3
5  GeneGo (Thomson Reuters) Pathways for JAK3
5/11  BioSystems Pathways for JAK3 (see all 11)
5/11 
Reactome Pathways for JAK3 (see all 11)
4 
Kegg Pathways (Kegg details for JAK3):
JAK3 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JAK3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/156 Interacting proteins for JAK3 (P523331, 2, 3 ENSP000003916764) via UniProtKB, MINT, STRING, and/or I2D (see all 156)About this table
Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34): About this table | 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:0007167 | enzyme linked receptor protein signaling pathway |
ISS | -- | | GO:0007204 | elevation of cytosolic calcium ion concentration |
-- | -- | | GO:0007243 | intracellular protein kinase cascade |
ISS | -- |
JAK3 for ontologies About GeneDecksing
|
Drugs & Compounds
for JAK3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
JAK3 for compounds About GeneDecksing
Compounds for JAK3 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| ZM 449829 | Potent, selective JAK3 inhibitor | [4452-06-6] | | WHI-P 154 | JAK3 kinase inhibitor. Also inhibits EGFR | [211555-04-3] | | AG 490 | EGFR-kinase inhibitor. Also JAK2, JAK3 inhibitor | [133550-30-8] | | ZM 39923 hydrochloride | Potent, selective JAK3 inhibitor | [58753-54-1] | | | -- |
2 HMDB Compounds for JAK3 About this table
2 DrugBank Compounds for JAK3 About this table
10/30 Novoseek chemical compound relationships for JAK3 gene (see all 30) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tyrosine |
82 |
277 |
10037026 (6), 17537734 (4), 7479924 (3), 19923221 (3) (see all 99) |
| [alcl] |
55.9 |
5 |
15385932 (1), 12934099 (1), 16763206 (1) |
| leflunomide |
41.9 |
4 |
9469413 (2), 12482141 (1), 16045735 (1) |
| propanil |
40.5 |
2 |
9133424 (1) |
| phosphatidylinositol |
35.7 |
1 |
9045636 (1) |
| mg 132 |
35.7 |
3 |
16871283 (1), 16825495 (1), 16939498 (1) |
| quinazoline |
34 |
1 |
10632369 (1) |
| wortmannin |
30.1 |
3 |
14716795 (2), 15740849 (1) |
| gp 130 |
21.2 |
5 |
9618263 (1), 10872892 (1), 11557047 (1) |
| genistein |
19.9 |
5 |
19086989 (2), 15183121 (1) |
Search CenterWatch for drugs/clinical trials and news about JAK3
|
Transcripts
for JAK3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for JAK3 gene: NM_000215.3 Unigene Cluster for JAK3: Janus kinase 3 Hs.515247 [show with all ESTs]Unigene Representative Sequence: NM_0002157 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000527031(uc010ebh.3) ENST00000527670 ENST00000534444(uc002nho.2)
ENST00000526008(uc010xpx.1) ENST00000528705 ENST00000528293(uc010xpy.1)
ENST00000458235(uc002nhn.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for JAK3 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for JAK3 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: JAK3 (NM_000215) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for JAK3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JAK3 |
Additional cDNA sequence: AK296383.1 AK304392.1 U08340.1 U09607.1 U31317.1 U31601.1 U57096.1 8 DOTS entries: DT.95133732 DT.307733 DT.92415599 DT.92415598 DT.100016656 DT.95324786 DT.92021985 DT.95084104 24/75 AceView cDNA sequences (see all 75): BM561964 AW500013 BM756498 BX092592 AI651109 AA295850 CF138282 AA233621 BG397564 BQ709825 BC028068 NM_000215 AA252892 CF121602 AW503697 BM146700 BG341270 AW408832 AA738443 BX116593 AA490900 AA361724 AW501582 U57096
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for JAK3 (see all 7) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | |
| ExUns: | 23a | · | 23b | ^ | 24a | · | 24b | · | 24c | ^ | 25 | ^ | 26a | · | 26b | · | 26c |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for JAK3
|
Expression
for JAK3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| JAK3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGCTTTAAA
About this image
See JAK3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for JAK3
SOURCE GeneReport for Unigene cluster: Hs.515247
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333Tissue specificity: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form ismore commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic andepithelial origins
SABiosciences Expression via Pathway-Focused PCR Arrays including JAK3:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for JAK3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat JAK3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat JAK3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JAK3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JAK3 |
Orthologs
for JAK3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for JAK3 gene from 4/12 species (see all 12) About this table
ENSEMBL Gene Tree for JAK3 (if available)
TreeFam Gene Tree for JAK3 (if available) |
Paralogs
for JAK3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for JAK3 gene
- SYK2 TNK12 JAK22 TNK22 TYK22 ERBB42 JAK12 ERBB32
- PTK22 ERBB22 ZAP702 PTK2B2 EGFR2
4 SIMAP similar genes for JAK3 using alignment to 2 protein entries: JAK3_HUMAN (see all proteins):JAK2 EPHA2 JAK1 TYK2
JAK3 for paralogs About GeneDecksing
|
Genomic Variants
for JAK3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for JAK3 (17935589 - 17958880 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for JAK3
1 CNV: 5091
Human Gene Mutation Database (HGMD): JAK3
Locus Specific Mutation Databases (LSDB): JAK3
| 4 SABiosciences Cancer Mutation PCR Assays for JAK3: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing JAK3 |
|
Disorders
/ Diseases
for JAK3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
JAK3 for disorders About GeneDecksing
OMIM gene information: 600173
OMIM disorders: --
UniProtKB/Swiss-Prot: JAK3_HUMAN, P52333
Defects in JAK3 are a cause of severe combined immunodeficiency autosomal recessiveT-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]. A form of severe combinedimmunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterizedby impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patientspresent in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all typesof SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development
20/58  diseases for JAK3 (see all 58): About MalaCardssevere combined immunodeficiency anaplastic large cell lymphoma combined immunodeficiency acute megakaryoblastic leukemia
megakaryoblastic leukemia immunodeficiency rheumatoid arthritis human t-cell leukemia virus type 1
myeloid leukemia leukemia/lymphoma leukemia amyotrophic lateral sclerosis
down syndrome chronic myeloid leukemia diffuse large b-cell lymphoma myeloproliferative disorder
cutaneous t cell lymphoma atopic dermatitis mantle cell lymphoma colon carcinoma
3 diseases from the University of Copenhagen DISEASES database for JAK3:Severe combined immunodeficiency Leukemia Lung cancer 10/39 Novoseek disease relationships for JAK3 gene (see all 39) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| severe combined immunodeficiency |
84.2 |
39 |
16418296 (2), 15220007 (2), 10477719 (1), 10972897 (1) (see all 31) |
| severe combined immunodeficiency, x-linked |
82.8 |
7 |
7973658 (2), 9063412 (1), 9843216 (1), 8557662 (1) (see all 5) |
| megakaryoblastic leukemia acute |
72.7 |
9 |
18160671 (1), 18297515 (1), 16843266 (1), 17252020 (1) (see all 9) |
| myeloproliferative disorders |
62.7 |
6 |
18397343 (2), 18160671 (1), 17644747 (1), 18682296 (1) (see all 5) |
| polycythemia vera |
52.6 |
1 |
18291658 (1) |
| leukemogenesis |
49.1 |
3 |
19047679 (1), 16843266 (1) |
| anaplastic large cell lymphoma |
43 |
2 |
12934099 (1), 16554750 (1) |
| leukemia |
42.9 |
9 |
18397343 (3), 10389946 (1), 10229324 (1), 20211620 (1) (see all 5) |
| lymphoma t-cell |
39.9 |
4 |
10229324 (1), 19747563 (1), 9613985 (1), 16170336 (1) |
| somatic mutations |
33.8 |
2 |
18160671 (1), 18559588 (1) |
Genatlas disease: JAK3 immunodeficiency,severe,combined,with decreased T and NK cells and normal B cells (T-B+NK-)
Human Genome Epidemiology (HuGE) Navigator: JAK3 (27 documents)
Export disorders for JAK3 gene to outside databases
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Publications
for JAK3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for JAK3 gene, integrated from 9 sources (see all 504):
(articles sorted by number of sources associating them with JAK3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Genomic sequence, organization, and chromosomal localization of human JAK3. (PubMed id 8921370)1, 2, 3, 9 Riedy M.C.... Johnston J.A. (1996)
- Phosphorylation of human Jak3 at tyrosines 904 and 939 positively regulates its activity. (PubMed id 18250158)1, 2, 9 Cheng H....Kirken R.A. (2008)
- Expression of Janus kinase 3 in human endothelial and other non- lymphoid and non-myeloid cells. (PubMed id 8662778)1, 2, 9 Verbsky J.W....Fields L.E. (1996)
- A kinase-deficient splice variant of the human JAK3 is expressed in hematopoietic and epithelial cancer cells. (PubMed id 7559633)1, 2, 9 Lai K.S.... Liu E.T. (1995)
- Structural and functional basis for JAK3-deficient severe combined immunodeficiency. (PubMed id 9354668)1, 2, 9 Candotti F....Villa A. (1997)
- Regulation of JAK3 expression in human monocytes: phosphorylation in response to interleukins 2, 4, and 7. (PubMed id 7535338)1, 2, 9 Musso T....McVicar D.W. (1995)
- Janus kinases in immune cell signaling. (PubMed id 19290934)1, 2, 9 Ghoreschi K....O'Shea J.J. (2009)
- The pseudokinase domain is required for suppression of basal activity of Jak2 and Jak3 tyrosine kinases and for cytokine-inducible activation of signal transduction. (PubMed id 12351625)1, 2, 9 Saharinen P. and Silvennoinen O. (2002)
- Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). (PubMed id 7659163)1, 2, 9 Macchi P....Notarangelo L.D. (1995)
- Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. (PubMed id 14615376)1, 2, 9 Roberts J.L....Buckley R.H. (2004)
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External Searches for JAK3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing JAK3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing JAK3 gene
(According to HUGE)
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| -- |
Specialized Databases showing JAK3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for JAK3 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for JAK3 | Genetics and Cytogenetics in Oncology and Haematology | | JAK3base | http://bioinf.uta.fi/JAK3base/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JAK3 | | SeattleSNPs | http://pga.gs.washington.edu/data/jak3/ |
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| Patent Information for JAK3 gene:
Search GeneIP for patents involving JAK3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for JAK3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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