Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

JAK2 (janus kinase 2)

Written1998-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2005-09Sabine Strehl
Children's Cancer Research Institute, Kinderspitalgasse 6, A-1090 Vienna, Austria

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)JTK10
Other alias
HGNC (Hugo) JAK2
LocusID (NCBI) 3717
Atlas_Id 98
Location 9p24.1  [Link to chromosome band 9p24]
Location_base_pair Starts at 4985086 and ends at 5128183 bp from pter ( according to hg19-Feb_2009)  [Mapping JAK2.png]
 
  JAK2 (9p24) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2016)
BCR (22q11.23) / JAK2 (9p24.1)BICD2 (9q22.31) / JAK2 (9p24.1)CDK12 (17q12) / JAK2 (9p24.1)
DOCK8 (9p24.3) / JAK2 (9p24.1)ETV6 (12p13.2) / JAK2 (9p24.1)JAK2 (9p24.1) / B2M (15q21.1)
JAK2 (9p24.1) / BCR (22q11.23)JAK2 (9p24.1) / CSTF3 (11p13)JAK2 (9p24.1) / ETV6 (12p13.2)
JAK2 (9p24.1) / GLDC (9p24.1)JAK2 (9p24.1) / JAK2 (9p24.1)JAK2 (9p24.1) / MBD1 (18q21.1)
JAK2 (9p24.1) / PAX5 (9p13.2)JAK2 (9p24.1) / PCM1 (8p22)JAK2 (9p24.1) / TMEM159 (16p12.3)
JAK2 (9p24.1) / TPM3 (1q21.3)KDM4C (9p24.1) / JAK2 (9p24.1)MBD1 (18q21.1) / JAK2 (9p24.1)
OFD1 (Xp22.2) / JAK2 (9p24.1)PAX5 (9p13.2) / JAK2 (9p24.1)PCM1 (8p22) / JAK2 (9p24.1)
RIC1 (9p24.1) / JAK2 (9p24.1)SEC31A (4q21.22) / JAK2 (9p24.1)SIK2 (11q23.1) / JAK2 (9p24.1)
SPAG9 (17q21.33) / JAK2 (9p24.1)SSBP2 (5q14.1) / JAK2 (9p24.1)STRN3 (14q12) / JAK2 (9p24.1)
TPM3 (1q21.3) / JAK2 (9p24.1)TTC13 (1q42.2) / JAK2 (9p24.1)

DNA/RNA

Description 25 exons spanning roughly 140 kb of genomic DNA; 5402 bp pre-mRNA; 6 different transcripts, putatively encoding 4 different protein isoforms

Protein

 
Description 1132 amino acids; 130,7 kDa; JAK2 contains a central Src homology 2 (SH2) domain, and two C-terminal domains: a tyrosine kinase domain JH1 (also termed PTK or TyrKc domain), and a tyrosine kinase-like domain JH2 (also termed STYKc)
Expression wide
Localisation intracellular, possibly membrane associated
Function protein tyrosine kinase of the non-receptor type that associates with the intracellular domains of cytokine receptors; JAK2 is the predominant JAK kinase activated in response to several growth factors and cytokines such as IL-3, GM-CSF and erythropoietin; it has been found to be constitutively associated with the prolactin receptor and is required for responses to gamma interferon
Homology JAK2 belongs to the janus kinase subfamily; so far four mammalian JAKs have been identified (JAK1, JAK2, JAK3, and TYK2); human JAK2 is > 90% identical to the mouse and the rat JAK2 homologs.

Mutations

Somatic A high proportion (> 50%) of patients with myeloproliferative disorders (MPD; (polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis - see below) carry a dominant gain-of-function V617F mutation in the JH2 kinase-like domain of JAK2. This mutation leads to deregulation of the kinase activity, and thus to constitutive tyrosine phosphorylation activity. The incidence of the V617F mutation in different studies ranges from 65-97% in polycythemia vera, from 41-57% in patients with essential thrombocythemia, and from 23-95% in patients with idiopathic myelofibrosis. In MPD the mutation is heterozygous in most patients and homozygous only in a minor subset. Mitotic recombination probably causes both 9p LOH and the transition from heterozygosity to homozygosity. The same mutation was also found in roughly 20% of Ph-negative atypical CML, in more than 10% of CMML, in about 15% of patients with megakaryocytic AML (AML M7), and 1/5 patients with juvenile myelomonocytic leukemia (JMML). The V617F mutation seems to occur exclusively in hematopietic malignancies of the myeloid lineage.

Implicated in

Note
  
Entity t(8;9)(p21-22;p24) / acute leukaemias -- > PCM1-JAK2
Disease myeloid and lymphoid malignancies; predominantly atypical CML, but also found in (CEL), (secondary) AML, and MDS/MPD; thirteen cases described to date, all male, except for one childhood female case with erythroid leukemia with multiple bone tumors
Prognosis highly variable; allogeneic stem cell transplantation may be the only curative treatment
Hybrid/Mutated Gene 5' PCM1   3' JAK2; only in some cases the reciprocal 5' JAK2   3' PCM1 is present
Abnormal Protein almost the entire PCM1 protein containing multiple coiled-coil domains is fused to the tyrosine kinase C-terminal domains (JH2 and JH1) of JAK2
Oncogenesis dimerization or oligomerization of the PCM1-JAK2 chimera through one or more of the coiled-coil motifs of PCM1 probably results in the constitutive activation of the tyrosine kinase domain of JAK2
  
  
Entity t(9;12)(p24;p13) / acute leukaemias --> JAK2/ETV6
Disease myeloid and lymphoid leukemias; only three cases described to date; one case each: childhood T-ALL, pre B-ALL, atypical CML
Prognosis unknown
Hybrid/Mutated Gene 5' ETV6 - 3' JAK2
Abnormal Protein in the atypical CML the N-terminal HLH of ETV6 is fused to the tyrosine kinase C-terminal domains (JH2 and JH1) of JAK2; in the B-ALL the same ETV6 domain is fused to part of the JH2 and the complete JH1 domain, and in the T-ALL case to the JH1 domain
Oncogenesis it may be speculated that the HLH domain of ETV6 provides a dimerization interface to the kinase domain of JAK2, which activates JAK2; ETV6-JAK2 transgenic mice   generated using a T-ALL specific fusion construct - develop fatal CD8+ acute T-cell leukemia
  
  
Entity t(9;22)(p24;q11.2) /MPD-- > JAK2-BCR
Disease atypical CML; only one case described to date
Hybrid/Mutated Gene 5' BCR   3' JAK2; absence of the reciprocal 5' JAK2   3' BCR
Abnormal Protein the N-terminal coiled-coil domain of BCR is fused to the JH1 tyrosine kinase C-terminal domain of JAK2
Oncogenesis constitutive activation of the tyrosine kinase domain of JAK2 mediated through oligomerization through the coiled-coil domain of BCR
  
  
Entity Polycythemia vera / Essential thrombocythemia / Idiopathic thrombocythemia / Idiopathic myelofibrosis
Note the V617F mutation in JAK2 could form the basis for a new molecular classification of myeloproliferative disorders
Disease chronic myeloproliferative syndromes
Oncogenesis a significant percentage of patients with myeloproliferative disorders carries a dominant gain of function V617F mutation in JAK2; this mutation seems to lead to deregulation of the kinase activity of JAK2, and thus to constitutive tyrosine phosphorylation activity, providing hematopoietic cells with a proliferative and survival advantage
  

Breakpoints

 

Bibliography

Clinical implications of the JAK2 V617F mutation in essential thrombocythemia.
Antonioli E, Guglielmelli P, Pancrazzi A, Bogani C, Verrucci M, Ponziani V, Longo G, Bosi A, Vannucchi AM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (10) : 1847-1849.
PMID 16079890
 
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Cancer Genome Project, Green AR
Lancet. 2005 ; 365 (9464) : 1054-1061.
PMID 15781101
 
The t(8;9)(p22;p24) translocation in atypical chronic myeloid leukaemia yields a new PCM1-JAK2 fusion gene.
Bousquet M, Quelen C, De Mas V, Duchayne E, Roquefeuil B, Delsol G, Laurent G, Dastugue N, Brousset P
Oncogene. 2005 ; 24 (48) : 7248-7252.
PMID 16091753
 
TEL-JAK2 transgenic mice develop T-cell leukemia.
Carron C, Cormier F, Janin A, Lacronique V, Giovannini M, Daniel MT, Bernard O, Ghysdael J
Blood. 2000 ; 95 (12) : 3891-3899.
PMID 10845925
 
Genetics of myeloid malignancies: pathogenetic and clinical implications.
Fröhling S, Scholl C, Gilliland DG, Levine RL
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2005 ; 23 (26) : 6285-6295.
PMID 16155011
 
The Jak2V617F mutation, PRV-1 overexpression, and EEC formation define a similar cohort of MPD patients.
Goerttler PS, Steimle C, März E, Johansson PL, Andreasson B, Griesshammer M, Gisslinger H, Heimpel H, Pahl HL
Blood. 2005 ; 106 (8) : 2862-2864.
PMID 15985544
 
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia.
Griesinger F, Hennig H, Hillmer F, Podleschny M, Steffens R, Pies A, Wörmann B, Haase D, Bohlander SK
Genes, chromosomes & cancer. 2005 ; 44 (3) : 329-333.
PMID 16001431
 
TEL-JAK2 constitutively activates the extracellular signal-regulated kinase (ERK), stress-activated protein/Jun kinase (SAPK/JNK), and p38 signaling pathways.
Ho JM, Nguyen MH, Dierov JK, Badger KM, Beattie BK, Tartaro P, Haq R, Zanke BW, Carroll MP, Barber DL
Blood. 2002 ; 100 (4) : 1438-1448.
PMID 12149229
 
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.
James C, Ugo V, Le Couédic JP, Staerk J, Delhommeau F, Lacout C, Garçon L, Raslova H, Berger R, Bennaceur-Griscelli A, Villeval JL, Constantinescu SN, Casadevall N, Vainchenker W
Nature. 2005 ; 434 (7037) : 1144-1148.
PMID 15793561
 
JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.
Jelinek J, Oki Y, Gharibyan V, Bueso-Ramos C, Prchal JT, Verstovsek S, Beran M, Estey E, Kantarjian HM, Issa JP
Blood. 2005 ; 106 (10) : 3370-3373.
PMID 16037387
 
JAK2 V617F Mutation is uncommon in chronic myelomonocytic leukaemia.
Johan MF, Goodeve AC, Bowen DT, Frew ME, Reilly JT
British journal of haematology. 2005 ; 130 (6) : page 968.
PMID 16156870
 
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.
Jones AV, Kreil S, Zoi K, Waghorn K, Curtis C, Zhang L, Score J, Seear R, Chase AJ, Grand FH, White H, Zoi C, Loukopoulos D, Terpos E, Vervessou EC, Schultheis B, Emig M, Ernst T, Lengfelder E, Hehlmann R, Hochhaus A, Oscier D, Silver RT, Reiter A, Cross NC
Blood. 2005 ; 106 (6) : 2162-2168.
PMID 15920007
 
Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2.
Kralovics R, Teo SS, Buser AS, Brutsche M, Tiedt R, Tichelli A, Passamonti F, Pietra D, Cazzola M, Skoda RC
Blood. 2005 ; 106 (10) : 3374-3376.
PMID 16081684
 
A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.
Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffé M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA
Science (New York, N.Y.). 1997 ; 278 (5341) : 1309-1312.
PMID 9360930
 
Mutation studies in CD3+, CD19+ and CD34+ cell fractions in myeloproliferative disorders with homozygous JAK2(V617F) in granulocytes.
Lasho TL, Mesa R, Gilliland DG, Tefferi A
British journal of haematology. 2005 ; 130 (5) : 797-799.
PMID 16115143
 
The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia.
Levine RL, Loriaux M, Huntly BJ, Loh ML, Beran M, Stoffregen E, Berger R, Clark JJ, Willis SG, Nguyen KT, Flores NJ, Estey E, Gattermann N, Armstrong S, Look AT, Griffin JD, Bernard OA, Heinrich MC, Gilliland DG, Druker B, Deininger MW
Blood. 2005 ; 106 (10) : 3377-3379.
PMID 16081687
 
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Levine RL, Wadleigh M, Cools J, Ebert BL, Wernig G, Huntly BJ, Boggon TJ, Wlodarska I, Clark JJ, Moore S, Adelsperger J, Koo S, Lee JC, Gabriel S, Mercher T, D'Andrea A, Fröhling S, Döhner K, Marynen P, Vandenberghe P, Mesa RA, Tefferi A, Griffin JD, Eck MJ, Sellers WR, Meyerson M, Golub TR, Lee SJ, Gilliland DG
Cancer cell. 2005 ; 7 (4) : 387-397.
PMID 15837627
 
JAK the trigger.
Mahon FX
Oncogene. 2005 ; 24 (48) : 7125-7126.
PMID 16007127
 
PCM1-JAK2 fusion in myeloproliferative disorders and acute erythroid leukemia with t(8;9) translocation.
Murati A, Gelsi-Boyer V, Adélaïde J, Perot C, Talmant P, Giraudier S, Lodé L, Letessier A, Delaval B, Brunel V, Imbert M, Garand R, Xerri L, Birnbaum D, Mozziconacci MJ, Chaffanet M
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (9) : 1692-1696.
PMID 16034466
 
Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.
Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P
Blood. 1997 ; 90 (7) : 2535-2540.
PMID 9326218
 
Identification of an acquired mutation in Jak2 provides molecular insights into the pathogenesis of myeloproliferative disorders.
Pesu M, O'Shea J, Hennighausen L, Silvennoinen O
Molecular interventions. 2005 ; 5 (4) : 211-215.
PMID 16123535
 
The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2.
Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B, Berger U, Telford N, Aruliah S, Yin JA, Vanstraelen D, Barker HF, Taylor PC, O'Driscoll A, Benedetti F, Rudolph C, Kolb HJ, Hochhaus A, Hehlmann R, Chase A, Cross NC
Cancer research. 2005 ; 65 (7) : 2662-2667.
PMID 15805263
 
Transformation of hematopoietic cell lines to growth-factor independence and induction of a fatal myelo- and lymphoproliferative disease in mice by retrovirally transduced TEL/JAK2 fusion genes.
Schwaller J, Frantsve J, Aster J, Williams IR, Tomasson MH, Ross TS, Peeters P, Van Rompaey L, Van Etten RA, Ilaria R Jr, Marynen P, Gilliland DG
The EMBO journal. 1998 ; 17 (18) : 5321-5333.
PMID 9736611
 
JAKing up hematopoietic proliferation.
Shannon K, Van Etten RA
Cancer cell. 2005 ; 7 (4) : 291-293.
PMID 15837617
 
The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both atypical myeloproliferative disorders and myelodysplastic syndromes.
Steensma DP, Dewald GW, Lasho TL, Powell HL, McClure RF, Levine RL, Gilliland DG, Tefferi A
Blood. 2005 ; 106 (4) : 1207-1209.
PMID 15860661
 
The V617F mutation in Jak2 is not found in childhood acute lymphoblastic leukaemia.
Sulong S, Case M, Minto L, Wilkins B, Hall A, Irving J
British journal of haematology. 2005 ; 130 (6) : 964-965.
PMID 16156866
 
JAK2 in myeloproliferative disorders is not just another kinase.
Tefferi A, Gilliland DG
Cell cycle (Georgetown, Tex.). 2005 ; 4 (8) : 1053-1056.
PMID 15970705
 
JAK2 Val617Phe activating tyrosine kinase mutation in juvenile myelomonocytic leukemia.
Tono C, Xu G, Toki T, Takahashi Y, Sasaki S, Terui K, Ito E
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (10) : 1843-1844.
PMID 16079889
 
Identification of an acquired JAK2 mutation in polycythemia vera.
Zhao R, Xing S, Li Z, Fu X, Li Q, Krantz SB, Zhao ZJ
The Journal of biological chemistry. 2005 ; 280 (24) : 22788-22792.
PMID 15863514
 

Citation

This paper should be referenced as such :
Strehl, S
JAK2 (janus kinase 2)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):3-6.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/JAKID98.html
History of this paper:
Jean-Loup Huret. JAK2 (janus kinase 2). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):14-14.
http://documents.irevues.inist.fr/bitstream/handle/2042/32099/02-1998-JAKID98.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 34 ]
  t(9;12)(p24;p13) ETV6/JAK2
8p11 myeloproliferative syndrome (FGFR1)
Classical Hodgkin lymphoma
Classification of myelodysplastic syndromes 2015
Chronic myelogenous leukaemia (CML)
Chronic Myelomonocytic Leukemia (CMML)
del(9p) in Acute Lymphoblastic Leukemia
del(X)(p22p22) P2RY8/CRLF2::del(Y)(p11p11) P2RY8/CRLF2
der(1;9)(q10;p10)
der(9;18)(p10;q10)
der(9)t(1;9)(q12;q12)
Essential Thrombocythemia (ET)
Hodgkin lymphoma
i(17q) solely in myeloid malignancies
i(18)(q10)
Acute lymphoblastic leukemia in Down syndrome
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
Mediastinal Gray Zone Lymphoma
Myelofibrosis with Myeloid Metaplasia (MMM)::Idiopathic myelofibrosis::Agnogenic myeloid metaplasia
Myeloid proliferations in Down syndrome
Myeloid/Lymphoid neoplasms with abnormalities of PDGFRA
Myeloid/Lymphoid neoplasms with abnormalities of PDGFRB
Primary mediastinal B-cell lymphoma (PMBL)
Polycythemia Vera (PV)
t(1;18)(q10;q10)
t(2;11)(p21;q23) without KMT2A (MLL) rearrangement
t(4;9)(q21.22;p24) SEC31A/JAK2
t(5;9)(q14.1;p24) SSBP2/JAK2
t(5;9)(q32;p24) KANK1/PDGFRB
t(8;9)(p22;p24) PCM1/JAK2
t(9;9)(p13;p24) PAX5/JAK2::del(9)(p13p24) PAX5/JAK2::inv(9)(p13p24) PAX5/JAK2
t(9;22)(p24;q11.2)
T-lineage acute lymphoblastic leukemia (T-ALL)
1q translocations (unbalanced) in myeloid malignancies


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Adenocarcinoma
Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)JAK2   6192
LRG (Locus Reference Genomic)LRG_612
Cards
AtlasJAKID98
Entrez_Gene (NCBI)JAK2  3717  Janus kinase 2
AliasesJTK10; THCYT3
GeneCards (Weizmann)JAK2
Ensembl hg19 (Hinxton)ENSG00000096968 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000096968 [Gene_View]  chr9:4985086-5128183 [Contig_View]  JAK2 [Vega]
ICGC DataPortalENSG00000096968
TCGA cBioPortalJAK2
AceView (NCBI)JAK2
Genatlas (Paris)JAK2
WikiGenes3717
SOURCE (Princeton)JAK2
Genetics Home Reference (NIH)JAK2
Genomic and cartography
GoldenPath hg38 (UCSC)JAK2  -     chr9:4985086-5128183 +  9p24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JAK2  -     9p24.1   [Description]    (hg19-Feb_2009)
EnsemblJAK2 - 9p24.1 [CytoView hg19]  JAK2 - 9p24.1 [CytoView hg38]
Mapping of homologs : NCBIJAK2 [Mapview hg19]  JAK2 [Mapview hg38]
OMIM133100   147796   254450   263300   600880   614521   
Gene and transcription
Genbank (Entrez)AF001362 AF005216 AF058925 AI923337 AK292525
RefSeq transcript (Entrez)NM_001322194 NM_001322195 NM_001322196 NM_001322198 NM_001322199 NM_001322204 NM_004972
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JAK2
Cluster EST : UnigeneHs.656213 [ NCBI ]
CGAP (NCI)Hs.656213
Alternative Splicing GalleryENSG00000096968
Gene ExpressionJAK2 [ NCBI-GEO ]   JAK2 [ EBI - ARRAY_EXPRESS ]   JAK2 [ SEEK ]   JAK2 [ MEM ]
Gene Expression Viewer (FireBrowse)JAK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3717
GTEX Portal (Tissue expression)JAK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60674   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60674  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60674
Splice isoforms : SwissVarO60674
PhosPhoSitePlusO60674
Domaine pattern : Prosite (Expaxy)FERM_3 (PS50057)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    SH2 (PS50001)   
Domains : Interpro (EBI)Band_41_domain    FERM_central    FERM_domain    Kinase-like_dom    PH_dom-like    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    SH2    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_non-rcpt_Jak/Tyk2    Tyr_kinase_non-rcpt_Jak2   
Domain families : Pfam (Sanger)Pkinase_Tyr (PF07714)    SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam07714    pfam00017   
Domain families : Smart (EMBL)B41 (SM00295)  SH2 (SM00252)  TyrKc (SM00219)  
Conserved Domain (NCBI)JAK2
DMDM Disease mutations3717
Blocks (Seattle)JAK2
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyO60674
Human Protein AtlasENSG00000096968
Peptide AtlasO60674
HPRD00993
IPIIPI00031016   IPI00930536   IPI01013665   IPI00973392   
Protein Interaction databases
DIP (DOE-UCLA)O60674
IntAct (EBI)O60674
FunCoupENSG00000096968
BioGRIDJAK2
STRING (EMBL)JAK2
ZODIACJAK2
Ontologies - Pathways
QuickGOO60674
Ontology : AmiGOMAPK cascade  activation of MAPKK activity  adaptive immune response  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  growth hormone receptor binding  growth hormone receptor binding  interleukin-12 receptor binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytoskeleton  plasma membrane  caveola  focal adhesion  protein phosphorylation  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  movement of cell or subcellular component  signal transduction  enzyme linked receptor protein signaling pathway  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  JAK-STAT cascade  tyrosine phosphorylation of STAT protein  tyrosine phosphorylation of STAT protein  STAT protein import into nucleus  mesoderm development  blood coagulation  protein C-terminus binding  negative regulation of cell proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  negative regulation of cardiac muscle cell apoptotic process  positive regulation of cell-substrate adhesion  positive regulation of phosphatidylinositol 3-kinase signaling  nuclear matrix  cell migration  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  cytokine-mediated signaling pathway  protein kinase binding  heme binding  negative regulation of cell-cell adhesion  actin filament polymerization  cell differentiation  erythrocyte differentiation  erythrocyte differentiation  positive regulation of cell migration  axon regeneration  extrinsic component of cytoplasmic side of plasma membrane  type 1 angiotensin receptor binding  endosome lumen  mineralocorticoid receptor signaling pathway  positive regulation of insulin secretion  response to lipopolysaccharide  positive regulation of phosphoprotein phosphatase activity  positive regulation of interleukin-1 beta production  positive regulation of tumor necrosis factor production  acetylcholine receptor binding  positive regulation of protein import into nucleus, translocation  response to hydroperoxide  tumor necrosis factor-mediated signaling pathway  response to tumor necrosis factor  histone kinase activity (H3-Y41 specific)  histone H3-Y41 phosphorylation  intracellular signal transduction  interleukin-12-mediated signaling pathway  peptidyl-tyrosine autophosphorylation  regulation of cell proliferation  SH2 domain binding  histone binding  regulation of apoptotic process  positive regulation of DNA binding  negative regulation of DNA binding  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  insulin receptor substrate binding  innate immune response  membrane raft  positive regulation of nitric oxide biosynthetic process  positive regulation of cell differentiation  negative regulation of heart contraction  response to antibiotic  protein autophosphorylation  metal ion binding  platelet-derived growth factor receptor signaling pathway  regulation of inflammatory response  positive regulation of inflammatory response  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of cell activation  positive regulation of sequence-specific DNA binding transcription factor activity  peptide hormone receptor binding  positive regulation of nitric-oxide synthase biosynthetic process  interferon-gamma-mediated signaling pathway  regulation of interferon-gamma-mediated signaling pathway  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  positive regulation of growth hormone receptor signaling pathway  mammary gland epithelium development  response to interleukin-12  extrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of growth factor dependent skeletal muscle satellite cell proliferation  positive regulation of epithelial cell apoptotic process  positive regulation of vascular smooth muscle cell proliferation  
Ontology : EGO-EBIMAPK cascade  activation of MAPKK activity  adaptive immune response  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  Ras guanyl-nucleotide exchange factor activity  receptor binding  growth hormone receptor binding  growth hormone receptor binding  interleukin-12 receptor binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  cytosol  cytoskeleton  plasma membrane  caveola  focal adhesion  protein phosphorylation  apoptotic process  activation of cysteine-type endopeptidase activity involved in apoptotic process  movement of cell or subcellular component  signal transduction  enzyme linked receptor protein signaling pathway  G-protein coupled receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  JAK-STAT cascade  tyrosine phosphorylation of STAT protein  tyrosine phosphorylation of STAT protein  STAT protein import into nucleus  mesoderm development  blood coagulation  protein C-terminus binding  negative regulation of cell proliferation  intrinsic apoptotic signaling pathway in response to oxidative stress  negative regulation of cardiac muscle cell apoptotic process  positive regulation of cell-substrate adhesion  positive regulation of phosphatidylinositol 3-kinase signaling  nuclear matrix  cell migration  peptidyl-tyrosine phosphorylation  cytokine-mediated signaling pathway  cytokine-mediated signaling pathway  protein kinase binding  heme binding  negative regulation of cell-cell adhesion  actin filament polymerization  cell differentiation  erythrocyte differentiation  erythrocyte differentiation  positive regulation of cell migration  axon regeneration  extrinsic component of cytoplasmic side of plasma membrane  type 1 angiotensin receptor binding  endosome lumen  mineralocorticoid receptor signaling pathway  positive regulation of insulin secretion  response to lipopolysaccharide  positive regulation of phosphoprotein phosphatase activity  positive regulation of interleukin-1 beta production  positive regulation of tumor necrosis factor production  acetylcholine receptor binding  positive regulation of protein import into nucleus, translocation  response to hydroperoxide  tumor necrosis factor-mediated signaling pathway  response to tumor necrosis factor  histone kinase activity (H3-Y41 specific)  histone H3-Y41 phosphorylation  intracellular signal transduction  interleukin-12-mediated signaling pathway  peptidyl-tyrosine autophosphorylation  regulation of cell proliferation  SH2 domain binding  histone binding  regulation of apoptotic process  positive regulation of DNA binding  negative regulation of DNA binding  negative regulation of neuron apoptotic process  positive regulation of GTPase activity  phosphatidylinositol 3-kinase binding  insulin receptor substrate binding  innate immune response  membrane raft  positive regulation of nitric oxide biosynthetic process  positive regulation of cell differentiation  negative regulation of heart contraction  response to antibiotic  protein autophosphorylation  metal ion binding  platelet-derived growth factor receptor signaling pathway  regulation of inflammatory response  positive regulation of inflammatory response  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of cell activation  positive regulation of sequence-specific DNA binding transcription factor activity  peptide hormone receptor binding  positive regulation of nitric-oxide synthase biosynthetic process  interferon-gamma-mediated signaling pathway  regulation of interferon-gamma-mediated signaling pathway  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  positive regulation of growth hormone receptor signaling pathway  mammary gland epithelium development  response to interleukin-12  extrinsic apoptotic signaling pathway  activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  positive regulation of growth factor dependent skeletal muscle satellite cell proliferation  positive regulation of epithelial cell apoptotic process  positive regulation of vascular smooth muscle cell proliferation  
Pathways : BIOCARTA [Genes]   
Pathways : KEGG   
REACTOMEO60674 [protein]
REACTOME PathwaysR-HSA-983231 [pathway]   
NDEx NetworkJAK2
Atlas of Cancer Signalling NetworkJAK2
Wikipedia pathwaysJAK2
Orthology - Evolution
OrthoDB3717
GeneTree (enSembl)ENSG00000096968
Phylogenetic Trees/Animal Genes : TreeFamJAK2
HOVERGENO60674
HOGENOMO60674
Homologs : HomoloGeneJAK2
Homology/Alignments : Family Browser (UCSC)JAK2
Gene fusions - Rearrangements
Fusion : MitelmanBCR/JAK2 [22q11.23/9p24.1]  [ins(22;9)(q11;p13p24)]  [t(9;18;22)(p24;p11;q11)]  
[t(9;22)(p24;q11)]  
Fusion : MitelmanCDK12/JAK2 [17q12/9p24.1]  [t(9;17)(p24;q12)]  
Fusion : MitelmanDOCK8/JAK2 [9p24.3/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanETV6/JAK2 [12p13.2/9p24.1]  [t(9;12)(p24;p13)]  [t(9;15;12)(p24;q15;p13)]  
Fusion : MitelmanJAK2/CSTF3 [9p24.1/11p13]  [t(9;11)(p24;p13)]  
Fusion : MitelmanJAK2/GLDC [9p24.1/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanJAK2/TPM3 [9p24.1/1q21.3]  [t(1;9)(q21;p24)]  
Fusion : MitelmanKDM4C/JAK2 [9p24.1/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanPAX5/JAK2 [9p13.2/9p24.1]  [del(9)(p13)]  [del(9)(p13p24)]  
[del(9)(p24)]  [inv(9)(p13p24)]  [t(9;9)(p13;p24)]  
Fusion : MitelmanPCM1/JAK2 [8p22/9p24.1]  [t(8;9)(p22;p24)]  
Fusion : MitelmanRIC1/JAK2 [9p24.1/9p24.1]  [t(9;9)(p24;p24)]  
Fusion : MitelmanSEC31A/JAK2 [4q21.22/9p24.1]  [t(4;9)(q21;p24)]  
Fusion : MitelmanSIK2/JAK2 [11q23.1/9p24.1]  [t(9;11)(p24;q23)]  
Fusion : MitelmanSPAG9/JAK2 [17q21.33/9p24.1]  [t(9;17)(p24;q21)]  
Fusion : MitelmanSSBP2/JAK2 [5q14.1/9p24.1]  [t(5;9)(q14;p24)]  
Fusion : MitelmanSTRN3/JAK2 [14q12/9p24.1]  [t(9;14)(p24;q12)]  
Fusion : MitelmanTPM3/JAK2 [1q21.3/9p24.1]  [t(1;9)(q21;p24)]  
Fusion : MitelmanTTC13/JAK2 [1q42.2/9p24.1]  [t(1;9)(q42;p24)]  
Fusion : COSMICBCR [22q11.23]  -  JAK2 [9p24.1]  [fusion_752]  [fusion_757]  [fusion_758]  [fusion_987]  [fusion_988]  
Fusion : COSMICETV6 [12p13.2]  -  JAK2 [9p24.1]  [fusion_1066]  [fusion_1067]  [fusion_1068]  [fusion_498]  [fusion_989]  [fusion_990]  [fusion_993]  
[fusion_994]  [fusion_995]  
Fusion : COSMICJAK2 [9p24.1]  -  ETV6 [12p13.2]  [fusion_991]  [fusion_992]  
Fusion : COSMICJAK2 [9p24.1]  -  PAX5 [9p13.2]  [fusion_1073]  [fusion_1074]  [fusion_1075]  [fusion_1076]  
Fusion : COSMICJAK2 [9p24.1]  -  PCM1 [8p22]  [fusion_1005]  [fusion_1006]  [fusion_996]  [fusion_997]  
Fusion : COSMICPAX5 [9p13.2]  -  JAK2 [9p24.1]  [fusion_1071]  [fusion_1072]  
Fusion : COSMICPCM1 [8p22]  -  JAK2 [9p24.1]  [fusion_1000]  [fusion_1001]  [fusion_1002]  [fusion_1003]  [fusion_1004]  [fusion_1007]  [fusion_1008]  
[fusion_1009]  [fusion_1010]  [fusion_1012]  [fusion_998]  [fusion_999]  
Fusion : COSMICSEC31A [4q21.22]  -  JAK2 [9p24.1]  [fusion_1069]  [fusion_1070]  
Fusion : COSMICSSBP2 [5q14.1]  -  JAK2 [9p24.1]  [fusion_1045]  [fusion_1046]  [fusion_1047]  [fusion_1048]  
Fusion: TCGACDK12 17q12 JAK2 9p24.1 BRCA
Fusion: TCGADOCK8 9p24.3 JAK2 9p24.1 KIRC
Fusion: TCGAJAK2 9p24.1 CSTF3 11p13 LUAD
Fusion: TCGAJAK2 9p24.1 GLDC 9p24.1 HNSC
Fusion: TCGAKDM4C 9p24.1 JAK2 9p24.1 BRCA
Fusion: TCGASIK2 11q23.1 JAK2 9p24.1 BRCA
Fusion: TCGATTC13 1q42.2 JAK2 9p24.1 BRCA
Fusion : TICdbBCR [22q11.23]  -  JAK2 [9p24.1]
Fusion : TICdbETV6 [12p13.2]  -  JAK2 [9p24.1]
Fusion : TICdbPAX5 [9p13.2]  -  JAK2 [9p24.1]
Fusion : TICdbPCM1 [8p22]  -  JAK2 [9p24.1]
Fusion : TICdbSSBP2 [5q14.1]  -  JAK2 [9p24.1]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJAK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JAK2
dbVarJAK2
ClinVarJAK2
1000_GenomesJAK2 
Exome Variant ServerJAK2
ExAC (Exome Aggregation Consortium)JAK2 (select the gene name)
Genetic variants : HAPMAP3717
Genomic Variants (DGV)JAK2 [DGVbeta]
DECIPHERJAK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJAK2 
Mutations
ICGC Data PortalJAK2 
TCGA Data PortalJAK2 
Broad Tumor PortalJAK2
OASIS PortalJAK2 [ Somatic mutations - Copy number]
Cancer Gene: CensusJAK2 
Somatic Mutations in Cancer : COSMICJAK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJAK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch JAK2
DgiDB (Drug Gene Interaction Database)JAK2
DoCM (Curated mutations)JAK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JAK2 (select a term)
intoGenJAK2
NCG5 (London)JAK2
Cancer3DJAK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM133100    147796    254450    263300    600880    614521   
Orphanet854    3599    8745    8747    11014   
MedgenJAK2
Genetic Testing Registry JAK2
NextProtO60674 [Medical]
TSGene3717
GENETestsJAK2
Target ValidationJAK2
Huge Navigator JAK2 [HugePedia]
snp3D : Map Gene to Disease3717
BioCentury BCIQJAK2
ClinGenJAK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3717
Chemical/Pharm GKB GenePA29989
Drug Sensitivity JAK2
Clinical trialJAK2
Miscellaneous
canSAR (ICR)JAK2 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJAK2
EVEXJAK2
GoPubMedJAK2
iHOPJAK2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:29:06 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.