Gene: INSL6

Alternate names for this Gene: RIF1

Gene Summary: The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1

Description of this Gene: insulin like 6

Type of Gene: protein-coding

Gene: JAK2

Alternate names for this Gene: JTK10

Gene Summary: This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.1

Description of this Gene: Janus kinase 2

Type of Gene: protein-coding

rs1057519721 in INSL6;JAK2 gene and Acute lymphoblastic leukemia with lymphomatous features PMID 19470474 2009 JAK mutations in high-risk childhood acute lymphoblastic leukemia.

PMID 22368270 2012 Sorafenib treatment of FLT3-ITD(+) acute myeloid leukemia: favorable initial outcome and mechanisms of subsequent nonresponsiveness associated with the emergence of a D835 mutation.

PMID 18805579 2008 Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

PMID 22955920 2012 Targeting JAK1/2 and mTOR in murine xenograft models of Ph-like acute lymphoblastic leukemia.

rs16922576 in INSL6;JAK2 gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs10283564 in INSL6;JAK2 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs77375493 in INSL6;JAK2 gene and Budd-Chiari Syndrome PMID 25698270 2015 Diagnostic value of the JAK2 V617F mutation for latent chronic myeloproliferative disorders in patients with Budd-Chiari syndrome and/or portal vein thrombosis.

PMID 18600100 2008 Determination of the JAK2 V617F mutation may be useful to recognize patients with Budd-Chiari syndrome with or at risk for the subsequent development of overt myeloproliferative diseases.

PMID 16762626 2006 Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.

PMID 19293426 2009 The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

PMID 23425079 2013 Clinical features and etiology of Budd-Chiari syndrome in Chinese patients: a single-center study.

PMID 23980667 2014 JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.

rs10283564 in INSL6;JAK2 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73393498 in INSL6;JAK2 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs77375493 in INSL6;JAK2 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs121912472 in INSL6;JAK2 gene and Leukemia, Myelocytic, Acute PMID 23970018 2013 Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

PMID 16247455 2006 The JAK2 V617F mutation in de novo acute myelogenous leukemias.

PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.

PMID 24404189 2014 Here we report establishment of a new leukemia cell line, PVTL-1, homozygous for JAK2-V617F from a 73-year-old female patient with acute myeloid leukemia (AML) transformed from MPN.

PMID 22571758 2012 Among five patients diagnosed with MDS/MPN-U, three patients harboured RUNX1 (AML1) mutations; one carried somatic mosaicism of RUNX1 mutation with JAK2(V617F) mutation and one had dual RUNX1 and FLT3-internal tandem duplication mutations with progression to acute myeloid leukaemia (AML).

PMID 23115274 2013 Secondary genetic lesions in acute myeloid leukemia with inv(16) or t(16;16): a study of the German-Austrian AML Study Group (AMLSG).

PMID 22829971 2012 The synergy translated in vivo in two different AML models, the SET-2 megakaryoblastic AML mouse model carrying a JAK2(V617F) mutation, and the MOLM-13 model of FLT3-ITD-driven AML.

PMID 22422826 2012 Phase 2 study of the JAK kinase inhibitor ruxolitinib in patients with refractory leukemias, including postmyeloproliferative neoplasm acute myeloid leukemia.

PMID 20631743 2010 A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications.

PMID 21689158 2011 We found the patient to be JAK2-V617F mutation positive throughout the course of disease, while a mutation of the nucleophosmin (NPM1) gene emerged at AML diagnosis and relapse.

PMID 21120162 2010 The incidence of the JAK2 V617F mutation in each patient group was as follows: 8.3% (1/12), MDS; 22.2% (2/9), MDS/MPN-U; 14.3% (1/7), RARS-T; and 13.3%, (2/15) AML.

PMID 22041374 2011 This report describes the first case of myeloid sarcoma with JAK2 V617F mutation and implication of its progression to AML.

PMID 22818858 2013 Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

PMID 20339092 2010 AML1 is overexpressed in patients with myeloproliferative neoplasms and mediates JAK2V617F-independent overexpression of NF-E2.

PMID 16247455 2006 None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders.

rs77375493 in INSL6;JAK2 gene and Low density lipoprotein cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1057519721 in INSL6;JAK2 gene and Myeloproliferative disease PMID 20585391 2010 JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.

PMID 25849990 2015 Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.

PMID 19287384 2009 A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

PMID 15781101 2005 Identification of the Val617Phe JAK2 mutation lays the foundation for new approaches to the diagnosis, classification, and treatment of myeloproliferative disorders.

rs41316003 in INSL6;JAK2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs77375493 in INSL6;JAK2 gene and Polycythemia Vera PMID 16603627 2006 Here we isolated and characterized hematopoietic stem cells (HSC) and myeloid progenitors from 16 PV patient samples and 14 normal individuals, testing whether the JAK2 mutation could be found at the level of stem or progenitor cells and whether the JAK2 V617F-positive cells had altered differentiation potential.

PMID 15781101 2005 A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.

PMID 15793561 2005 A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

PMID 15858187 2005 A gain-of-function mutation of JAK2 in myeloproliferative disorders.

rs77375493 in INSL6;JAK2 gene and Primary Myelofibrosis PMID 16293597 2006 V617F mutation in JAK2 is associated with poorer survival in idiopathic myelofibrosis.

PMID 24986690 2014 Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-negative PMF).

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs77375493 in INSL6;JAK2 gene and Serum total cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs77375493 in INSL6;JAK2 gene and THROMBOCYTHEMIA 3 PMID 16325696 2005 Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

PMID 22397670 2012 Germline JAK2 mutation in a family with hereditary thrombocytosis.