JAK2 - Janus kinase 2 Gene
Also Known as JTK10
Species: Homo sapiens
About JAK2
This gene has 4 transcripts (splice variants), 265 orthologues, 32 paralogues and is associated with 132 phenotypes. Ubiquitous expression in appendix (RPKM 11.3), heart (RPKM 11.1) and 24 other tissues.
Summary
This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
JAK2 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001322195.2 | NP_001309124.1 | tyrosine-protein kinase JAK2 isoform a |
| NM_001322199.2 | NP_001309128.1 | tyrosine-protein kinase JAK2 isoform c |
| NM_001322198.2 | NP_001309127.1 | tyrosine-protein kinase JAK2 isoform c |
| NM_004972.4 | NP_004963.1 | tyrosine-protein kinase JAK2 isoform a |
| NR_169763.1 | ||
| NM_001322204.2 | NP_001309133.1 | tyrosine-protein kinase JAK2 isoform b |
| NM_001322194.2 | NP_001309123.1 | tyrosine-protein kinase JAK2 isoform a |
| NR_169764.1 | ||
| NM_001322196.2 | NP_001309125.1 | tyrosine-protein kinase JAK2 isoform a |
JAK2 Protein Structure
SH2: SH2 domain (401 - 481)
Pkinase_Tyr: Protein tyrosine kinase (546 - 805)
Pkinase_Tyr: Protein tyrosine kinase (849 - 1120)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1132 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tyrosine-protein kinase JAK2 |
|
JAK2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
JAK2 | O60674 | CSF2RB | Homo sapiens | P32927 | 18692472 | |
|
Intra
|
JAK2 | O60674 | Slc40a1 | Mus musculus | Q9JHI9 | 19234114 | |
|
Intra
|
JAK2 | O60674 | Slc40a1 | Mus musculus | Q9JHI9 | 19234114 | |
|
Intra
|
JAK2 | O60674 | ROCK2 | Homo sapiens | O75116 | 30413785 | |
|
Intra
|
JAK2 | O60674 | NCK1 | Homo sapiens | P16333 | 17474147 | |
|
Intra
|
JAK2 | O60674 | UBP1 | Homo sapiens | Q9NZI7 | 25852190 | |
|
Intra
|
JAK2 | O60674 | UBP1 | Homo sapiens | Q9NZI7 | 33961781 | |
|
Intra
|
JAK2 | O60674 | PTPN1 | Homo sapiens | P18031 | 21806020 |
Recombinant JAK2 Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P7989 | Janus kinase 2/JAK2 Protein, Human (His) | O60674-1 (S833-G1132) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P701102 | Janus kinase 2/JAK2 Protein, Human (381a.a, His) | O60674-1 (H752-G1132) | ≥ 90%, as determined by reducing SDS-PAGE. |
JAK2 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80421 | JAK2 Antibody (YA721) | WB, ICC/IF, IHC-P, FC | Human, Mouse, Rat |
| HY-P80467 | Phospho-JAK2 (Tyr1007+Tyr1008) Antibody (YA181) | WB, ICC/IF, IHC-P, IP | Human, Mouse, Rat |
| HY-P80727 | JAK2 Antibody (YA330) | WB | Human, Mouse |
| HY-P80727A | JAK2 Antibody (YA330)(PBS only) | WB | Human, Mouse |
| HY-P83853 | JAK2 Antibody (YA3550) | WB, ELISA | Human |
| HY-P83853A | JAK2 Antibody (YA3550)(PBS only) | WB, ELISA | Human |
| HY-P86385 | JAK2 Antibody (YA6077) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deficiency Anemia |
|
|
| Sm-Ahnmd |
|
|
| Autism |
|
|
| Nervous System Disease |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Rasopathy |
|
|
| Amegakaryocytic Thrombocytopenia, Congenital |
|
|
| Stress Polycythemia |
|
|
| Immunodeficiency 35 |
|
|
| Medulloblastoma |
|
|
| Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement |
|
|
| Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative |
|
|
| Erythroleukemia |
|
|
| Myeloid Leukemia |
|
|
| Bone Marrow Cancer |
|
|
| Systemic Lupus Erythematosus |
|
|
| Prostate Cancer |
|
|
| Papilledema |
|
|
| Ovarian Cancer |
|
|
| Severe Congenital Neutropenia |
|
|
| Blood Platelet Disease |
|
|
| Hematologic Cancer |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Primary Mediastinal B-Cell Lymphoma |
|
|
| Neutrophilia, Hereditary |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Thrombocythemia 3 |
|
|
| Leukemia, Acute Myeloid |
|
|
| Myelofibrosis |
|
|
| Mastocytosis |
|
|
| Esophageal Cancer |
|
|
| Acquired Von Willebrand Syndrome |
|
|
| B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Chronic Eosinophilic Leukemia |
|
|
| Colorectal Cancer |
|
|
| Primary Polycythemia |
|
|
| Down Syndrome |
|
|
| Polycythemia Vera |
|
|
| Myelodysplastic/Myeloproliferative Neoplasm |
|
|
| Portal Hypertension |
|
|
| Polycythemia |
|
|
| Temporal Arteritis |
|
|
| Acute Erythroid Leukemia |
|
|
| Antithrombin Iii Deficiency |
|
|
| Budd-Chiari Syndrome |
|
|
| Inflammatory Bowel Disease |
|
|
| Myeloproliferative Neoplasm |
|
|
| Myelophthisic Anemia |
|
|
| Acquired Polycythemia |
|
|
| Aggressive Systemic Mastocytosis |
|
|
| Leukemia |
|
|
| Chronic Neutrophilic Leukemia |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Thrombophilia |
|
|
| Erythrocytosis, Familial, 2 |
|
|
| Behcet Syndrome |
|
|
| Sagittal Sinus Thrombosis |
|
|
| Hepatic Vascular Disease |
|
|
| Hypertension, Essential |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
|
| Erythrocytosis, Familial, 6 |
|
|
| Hemangioblastoma |
|
|
| Lymphoma, Hodgkin, Classic |
|
|
| Autism Spectrum Disorder |
|
|
| Acute Leukemia |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Fibrosarcoma |
|
|
| Splenic Infarction |
|
|
| Vein Disease |
|
|
| Chronic Leukemia |
|
|
| Myelodysplastic Syndrome |
|
|
| Myeloma, Multiple |
|
|
| Essential Thrombocythemia |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Hyperglycemia |
|
|
| Portal Vein Thrombosis |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Systemic Mastocytosis |
|
|
| Beta-Thalassemia |
|
|
| Hypereosinophilic Syndrome |
|
|
| Aplastic Anemia |
|
|
| Blood Coagulation Disease |
|
|
| Erythromelalgia |
|
|
| Myocardial Infarction |
|
|
| Thrombosis |
|
|
| Skin Disease |
|
|
| Wernicke Encephalopathy |
|
|
| Hepatocellular Carcinoma |
|
|
| Leptin Deficiency Or Dysfunction |
|
|
| Thrombocytopenia |
|
|
| Adenocarcinoma |
|
|
| Erythrocytosis, Familial, 1 |
|
|
| Peripheral Nervous System Disease |
|
|
| Acute Salpingo-Oophoritis |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Splenomegaly |
|
|
| Premature Menopause |
|
|
| Thrombocytosis |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | JAK2 | VGNC | VGNC:73811 |
| Bos taurus | JAK2 | VGNC | VGNC:30365 |
| Canis familiaris | JAK2 | VGNC | VGNC:42176 |
| Mus musculus | JAK2 | MGD | MGI:96629 |
| Felis catus | JAK2 | VGNC | VGNC:67877 |
| Rattus norvegicus | JAK2 | RGD | RGD:2939 |
| Others | JAK2 | NCBI |