JAK2 (GeneID: 3717) | Homo sapiens
Description: Janus kinase 2 [Source:HGNC Symbol;Acc:HGNC:6192]
Synonyms: JTK10, THCYT3
Other ID(s): HGNC:6192, ENSG00000096968
Protein Accession Numbers: ENST00000539801, NP_004963, NP_001309127, NP_001309123, ENST00000381652.3, NP_001309133, NP_001309125, ENST00000544510, ENST00000381652, NP_001309128, NP_001309124
Statistics: ClinVar(224) gnomAD(1768) COSMIC(44742) PTM(42)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000381652 You are here now! ENST00000539801 You are here now! ENST00000544510 NP_001309123 You are here now! NP_001309124 You are here now! NP_001309125 You are here now! NP_001309127 NP_001309128 NP_001309133 NP_004963 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00017 SH2 SH2 domain 400-481 CL0541 SH2-like Homo sapiens
PF17887 Jak1_Phl Jak1 pleckstrin homology-like domain 299-381 CL0266 PH Homo sapiens
PF18377 FERM_F2 FERM F2 acyl-CoA binding protein-like domain 142-261 CL0632 FERM_M Homo sapiens
PF18379 FERM_F1 FERM F1 ubiquitin-like domain 39-134 CL0632 FERM_M Homo sapiens
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 849-1123 CL0016 PKinase Homo sapiens
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 545-805 CL0016 PKinase Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Abortion, Tubal Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Primary Myelofibrosis Hemic and Lymphatic Diseases ; 0.43 0.69
Calcinosis Nutritional and Metabolic Diseases ; 0.43 0.69
Uterine Cervical Neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Ulcerative Colitis Digestive System Diseases ; 0.43 0.69
Cytopenia N/A 0.43 0.69
Heart valve disease Cardiovascular Diseases ; 0.43 0.69
Hepatic Vein Thrombosis Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Hepatoma, Morris Neoplasms ; Digestive System Diseases ; 0.43 0.69
Hepatoma, Novikoff Neoplasms ; Digestive System Diseases ; 0.43 0.69
Inflammation Pathological Conditions, Signs and Symptoms ; 0.43 0.69
leukemia Neoplasms ; 0.43 0.69
Leukemia, Myelocytic, Acute Neoplasms ; 0.43 0.69
Myeloid Leukemia, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.43 0.69
Liver Neoplasms, Experimental Neoplasms ; Digestive System Diseases ; 0.43 0.69
Mesenteric Vascular Occlusion Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Myelofibrosis N/A 0.43 0.69
Acute Myeloid Leukemia, M1 Neoplasms ; 0.43 0.69
Myeloproliferative disease Hemic and Lymphatic Diseases ; 0.43 0.69
Polycythemia Hemic and Lymphatic Diseases ; 0.43 0.69
Polycythemia Vera Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Pregnancy Complications Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.43 0.69
Thrombocythemia, Essential Hemic and Lymphatic Diseases ; 0.43 0.69
Thromboembolism Cardiovascular Diseases ; 0.43 0.69
Venous Thrombosis Cardiovascular Diseases ; 0.43 0.69
Diffuse Large B-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.43 0.69
Experimental Hepatoma Neoplasms ; Digestive System Diseases ; 0.43 0.69
Deep Vein Thrombosis Cardiovascular Diseases ; 0.43 0.69
Myocardial Ischemia Cardiovascular Diseases ; 0.43 0.69
Familial erythrocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Congenital anemia N/A 0.43 0.69
Tumoral calcinosis Nutritional and Metabolic Diseases ; 0.43 0.69
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.43 0.69
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.43 0.69
Non-alcoholic Fatty Liver Disease Digestive System Diseases ; 0.43 0.69
Microcalcification Nutritional and Metabolic Diseases ; 0.43 0.69
Thrombocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Budd-Chiari Syndrome Digestive System Diseases ; Cardiovascular Diseases ; 0.43 0.69
Adult Diffuse Large B-Cell Lymphoma N/A 0.43 0.69
Childhood Diffuse Large B-Cell Lymphoma N/A 0.43 0.69
Ovarian Serous Adenocarcinoma N/A 0.43 0.69
Erythrocytosis Hemic and Lymphatic Diseases ; 0.43 0.69
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.43 0.69
Precursor Cell Lymphoblastic Leukemia Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.43 0.69
Nonalcoholic Steatohepatitis Digestive System Diseases ; 0.43 0.69
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO N/A 0.43 0.69
THROMBOCYTHEMIA 3 N/A 0.43 0.69
Thrombocytosis, Autosomal Dominant Hemic and Lymphatic Diseases ; 0.43 0.69
cervical cancer Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.43 0.69
Familial thrombocytosis N/A 0.43 0.69
NO RESULT FOUND
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