Gene: SETD2

Alternate names for this Gene: HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP

Gene Summary: Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: SET domain containing 2, histone lysine methyltransferase

Type of Gene: protein-coding

rs13063578 in SETD2 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.

rs1553699115 in SETD2 gene and Dysmorphic features PMID 24852293 2014 Mutations in SETD2 cause a novel overgrowth condition.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 27317772 2016 SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.

PMID 25574603 2015 Whole exome sequencing in females with autism implicates novel and candidate genes.

PMID 28424246 2017 Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

PMID 26084711 2015 Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

rs2290547 in SETD2 gene and High density lipoprotein measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

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

rs754921650 in SETD2 gene and Leukemia, Myelocytic, Acute PMID 16314571 2005 Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.

PMID 24509477 2014 Identification of functional cooperative mutations of SETD2 in human acute leukemia.

rs13063578 in SETD2 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13063578 in SETD2 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13063578 in SETD2 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs543811905 in SETD2 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs540476365 in SETD2 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 24662245 2014 Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

PMID 24509477 2014 Identification of functional cooperative mutations of SETD2 in human acute leukemia.

rs2290547 in SETD2 gene and Serum HDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs114151323 in SETD2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17784127 in SETD2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.