AutismKB 2.0

Annotation Details for SETD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SETD2 ( FLJ16420,FLJ22472,FLJ23184,FLJ45883,FLJ46217,HBP231,HIF-1,HYPB,KIAA1732,KMT3A,SET2,p231HBP )
Gene Full Name: SET domain containing 2
Band: 3p21.31
Quick LinksEntrez ID:29072; OMIM: 612778; Uniprot ID:SETD2_HUMAN; ENSEMBL ID: ENSG00000181555; HGNC ID: 18420
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654TAS-nucleoplasm-
GO:0005694IEA-chromosome-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17500595
GO:0018024IDA-histone-lysine N-methyltransferase activity23043551
GO:0018024IMP-histone-lysine N-methyltransferase activity23622243
GO:0018024TAS-histone-lysine N-methyltransferase activity-
GO:0046975IDA-histone methyltransferase activity (H3-K36 specific)26002201
GO ID Evidence Qualifier GO_term References
GO:0001525IEA-angiogenesis-
GO:0001763IEA-morphogenesis of a branching structure-
GO:0001843IEA-neural tube closure-
GO:0006298IMP-mismatch repair23622243
GO:0006355IEA-regulation of transcription, DNA-templated-
GO:0006368IMP-transcription elongation from RNA polymerase II promoter23325844
GO:0010793IMP-regulation of mRNA export from nucleus19141475
GO:0030900IEA-forebrain development-
GO:0034728IMP-nucleosome organization23325844
GO:0035441IEA-cell migration involved in vasculogenesis-
GO:0048332IEA-mesoderm morphogenesis-
GO:0048701IEA-embryonic cranial skeleton morphogenesis-
GO:0048864IEA-stem cell development-
GO:0060039IEA-pericardium development-
GO:0060669IEA-embryonic placenta morphogenesis-
GO:0060977IEA-coronary vasculature morphogenesis-
GO:0097198IDA-histone H3-K36 trimethylation23043551
GO:0097198IMP-histone H3-K36 trimethylation19141475
GO:0097676IDA-histone H3-K36 dimethylation26002201
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SETD2HTT1188459700202 Reconstituted Complex; Two-hybrid
SETD2HTT1093149700202 Reconstituted Complex; Two-hybrid
SETD2POLR2A11142616118227 Affinity Capture-Western; Reconstituted Complex
SETD2POLR2A11884516118227 Affinity Capture-Western; Reconstituted Complex
SETD2TP5311884518585004 Affinity Capture-Western
SETD2TP5311301018585004 Affinity Capture-Western
SETD2HIST1H3A11884516118227 Biochemical Activity
SETD2HIST1H3A11394616118227 Biochemical Activity
SETD2SETD211884516118227 Biochemical Activity
IWS1SETD211884519141475 Affinity Capture-Western
IWS1SETD212080719141475 Affinity Capture-Western
Gene Symbol Interactant Interaction ID References Description
SETD2HTT543939700202 Huntingtin interacts with HYPB
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1918177
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-2140'