Aliases for JAK3 Gene
Aliases for JAK3 Gene
External Ids for JAK3 Gene
- HGNC: 6193
- Entrez Gene: 3718
- Ensembl: ENSG00000105639
- OMIM: 600173
- UniProtKB: P52333
Previous GeneCards Identifiers for JAK3 Gene
- GC19M018430
- GC19M018328
- GC19M017780
- GC19M017797
- GC19M017789
- GC19M017935
- GC19M017500
Summaries 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 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.
-
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.
Additional gene information for JAK3 Gene
- Monarch Initiative
- Search for JAK3 at DataMed
- Search for JAK3 at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around JAK3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 19p13.11 by Ensembl
- 19p13.11 by Entrez Gene
- 19p13.11 by HGNC
JAK3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression 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).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for JAK3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for JAK3 (Jak3)
-
Custom Antibody ServicesOriGene Antibodies for JAK3
- Novus Biologicals Antibodies for JAK3
-
Abcam antibodies for JAK3
-
Cloud-Clone Corp. Antibodies for JAK3
- Invitrogen Antibodies for JAK3
- antibodies-online: Search results for 107 available JAK3 Antibodies ranked by validation data
- Compare Top JAK3 Antibodies
-
Recommended
- 22 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 1 IP Antibody (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 39 WB Antibodies (anti-mouse)
- 1 IHC Antibody (anti-human)
- 1 ICC Antibody (anti-human)
- 8 FACS Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 57 WB Antibodies (anti-human)
- Search GeneTex for Antibodies for JAK3
-
Santa Cruz Biotechnology (SCBT) Antibodies for JAK3
Protein Products
-
OriGene Purified Proteins for JAK3
- Search Origene for MassSpec and Protein Over-expression Lysates for JAK3
- Origene Custom Protein Services for JAK3
-
Cloud-Clone Corp. Proteins for JAK3
- Search GeneTex for Proteins for JAK3
-
Abcam proteins for JAK3
Assay Products
-
Cloud-Clone Corp. Assay Kits for JAK3
Domains & Families for JAK3 Gene
Gene Families for JAK3 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
Protein Domains for JAK3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for JAK3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P52333UniProtKB/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.
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
| 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 | -- |
Phenotypes for JAK3 Gene
- MGI mutant phenotypes for JAK3:
- inferred from 11 alleles
- GenomeRNAi human phenotypes for JAK3:
-
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Decreased viability in HMC1.1 cells
Animal Models for JAK3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for JAK3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for JAK3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for JAK3 gene
- Search ViGene Biosciences for JAK3
CRISPR Products
-
OriGene CRISPR knockouts for JAK3
- genomics-online: gRNA clones - Search results for 112 available JAK3 gene related products
- Overview of 112 available JAK3 gene related products
- Applied Biological Materials CRISPR for JAK3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JAK3
- GenScript: Design CRISPR guide RNA sequences for JAK3
miRNA for JAK3 Gene
- miRTarBase miRNAs that target JAK3
-
- hsa-mir-335-5p (MIRT017636)
- hsa-mir-7703 (MIRT643196)
- hsa-mir-555 (MIRT643197)
- hsa-mir-6861-5p (MIRT643198)
- hsa-mir-4793-3p (MIRT643199)
- hsa-mir-6742-3p (MIRT643200)
- hsa-mir-4292 (MIRT643201)
- hsa-mir-6791-5p (MIRT643202)
- hsa-mir-1273g-3p (MIRT643203)
- hsa-mir-3620-3p (MIRT643204)
- hsa-mir-504-5p (MIRT643205)
- hsa-mir-198 (MIRT732586)
- hsa-mir-29b-1-5p (MIRT732995)
miRNA Products
- Search ViGene Biosciences for JAK3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JAK3
- Browse OriGene Inhibitory RNA Products For JAK3
- genomics-online: shRNA clones - Search results for 112 available JAK3 gene related products
- Overview of 112 available JAK3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JAK3 gene
Clone Products
- Sino Biological Human cDNA Clone for JAK3
- VectorBuilder custom plasmid, inducible vectors for JAK3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JAK3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JAK3
- Applied Biological Materials Clones for JAK3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for JAK3
-
ViGene Biosciences adenoviral particle packaged cDNA for JAK3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for JAK3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for JAK3 gene
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| endosome | 4 |
| cytoskeleton | 3 |
| nucleus | 3 |
| extracellular | 2 |
| peroxisome | 1 |
| 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 | -- |
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 |
.92
|
.92
|
| 2 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
.36
|
|
| 3 | Th17 cell differentiation | ||
| 4 | IL-2 Pathway |
.48
|
.34
|
| 5 | G beta-gamma signalling through PI3Kgamma | ||
Pathways by source for JAK3 Gene
1 Sino Biological pathway for JAK3 Gene
2 GeneTex pathways for JAK3 Gene
11 BioSystems pathways for JAK3 Gene
54 Reactome pathways for JAK3 Gene
14 KEGG pathways for JAK3 Gene
5 GeneGo (Thomson Reuters) pathways for JAK3 Gene
12 R&D Systems pathways for JAK3 Gene
16 Qiagen pathways for JAK3 Gene
1 Cell Signaling Technology pathway for JAK3 Gene
Interacting Proteins for JAK3 Gene
Selected Interacting proteins:
ENSP00000391676
P52333-JAK3_HUMAN
for JAK3 Gene via
STRING
MINT
IID
UniProtKB
SIGNOR curated interactions 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 |
Drugs & Compounds for JAK3 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
(3) Tocris Compounds for JAK3 Gene
(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 |
Transcripts for JAK3 Gene
mRNA/cDNA for JAK3 Gene
- (4) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (75) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for JAK3
- genomics-online: gRNA clones - Search results for 112 available JAK3 gene related products
- Overview of 112 available JAK3 gene related products
- Applied Biological Materials CRISPR for JAK3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for JAK3
- GenScript: Design CRISPR guide RNA sequences for JAK3
miRNA Products
- Search ViGene Biosciences for JAK3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for JAK3
- Browse OriGene Inhibitory RNA Products For JAK3
- genomics-online: shRNA clones - Search results for 112 available JAK3 gene related products
- Overview of 112 available JAK3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for JAK3 gene
Clone Products
- Sino Biological Human cDNA Clone for JAK3
- VectorBuilder custom plasmid, inducible vectors for JAK3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for JAK3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for JAK3
- Applied Biological Materials Clones for JAK3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - |
Expression 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).
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
NURSA nuclear receptor signaling pathways regulating expression of JAK3 Gene:
JAK3SOURCE GeneReport for Unigene cluster for JAK3 Gene:
Hs.515247mRNA 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
Primer Products
-
OriGene qPCR primer pairs for JAK3
- genomics-online: primer clones - Search results for 112 available JAK3 gene related products
- Overview of 112 available JAK3 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | JAK3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | JAK3 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | JAK3 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Jak3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Jak3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | JAK3 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | JAK3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | JAK3 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | jak3 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | jak3 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for JAK3 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAK3 Gene
Disorders for JAK3 Gene
(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 |
|
|
| jak3-deficient severe combined immunodeficiency |
|
|
| severe combined immunodeficiency |
|
|
| janus kinase-3 deficiency |
|
|
| severe combined immunodeficiency, x-linked |
|
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
Publications for JAK3 Gene
- Genomic sequence, organization, and chromosomal localization of human JAK3. (PMID: 8921370) Riedy MC … Johnston JA (Genomics 1996) 2 3 4 22 58
- 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
- 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
- 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
- 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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