| External data extracted from UniProtKB/Swiss-Prot |
| Extracted from UniProtKB/Swiss-Prot, release: 0.0 |
| Entry name | SETD2_HUMAN |
| Primary accession number | Q9BYW2 |
| Secondary accession number(s) | O75397 O75405 Q17RW8 Q5BKS9 Q5QGN2 Q69YI5 Q6IN64 Q6ZN53 Q6ZS25 Q8N3R0 Q8TCN0 Q9C0D1 Q9H696 Q9NZW9 |
| Sequence was last modified on | May 18, 2010 (version 3) |
| Annotations were last modified on | March 15, 2017 (version 145) |
| Name and origin of the protein |
| Description | RecName: Full=Histone-lysine N-methyltransferase SETD2; EC=2.1.1.43; AltName: Full=HIF-1; AltName: Full=Huntingtin yeast partner B; AltName: Full=Huntingtin-interacting protein 1; Short=HIP-1; AltName: Full=Huntingtin-interacting protein B; AltName: Full=Lysine N-methyltransferase 3A; AltName: Full=SET domain-containing protein 2; Short=hSET2; AltName: Full=p231HBP; |
| Gene name | Name=SETD2 Synonyms=HIF1, HYPB, KIAA1732, KMT3A, SET2 ORFNames=HSPC069 |
| Encoded on | Name=SETD2; Synonyms=HIF1, HYPB, KIAA1732, KMT3A, SET2; ORFNames=HSPC069 |
| Keywords | 3D-structure; Activator; Alternative splicing; Autism spectrum disorder; Chromatin regulator; Chromosome; Coiled coil; Complete proteome; Disease mutation; Isopeptide bond; Mental retardation; Methyltransferase; Nucleus; Phosphoprotein; Polymorphism; Reference proteome; S-adenosyl-L-methionine; Transcription; Transcription regulation; Transferase; Ubl conjugation. |
| Copyright |
| Copyrighted by the UniProt Consortium, see http://www.uniprot.org/help/license. Distributed under the Creative Commons Attribution-NoDerivs License |
| Cross-references |
| EMBL | AC094020; -; NOT_ANNOTATED_CDS; Genomic_DNA |
| EMBL | AC127430; -; NOT_ANNOTATED_CDS; Genomic_DNA |
| EMBL | AK026125; BAB15367.1; ALT_SEQ; mRNA |
| EMBL | AK127782; BAC87131.1; ALT_INIT; mRNA |
| EMBL | AK131371; BAD18522.1; -; mRNA |
| EMBL | AL713692; CAD28492.1; -; mRNA |
| EMBL | AL831959; CAD38601.2; ALT_INIT; mRNA |
| EMBL | AL833394; CAH10589.1; -; mRNA |
| EMBL | AJ238403; CAC28349.1; ALT_SEQ; mRNA |
| EMBL | BC072440; AAH72440.1; ALT_SEQ; mRNA |
| EMBL | BC090954; AAH90954.1; -; mRNA |
| EMBL | BC117162; AAI17163.1; ALT_INIT; mRNA |
| EMBL | BC117164; AAI17165.1; ALT_INIT; mRNA |
| EMBL | AY576987; AAT77612.1; ALT_INIT; mRNA |
| EMBL | AY576988; AAT77613.1; ALT_INIT; mRNA |
| EMBL | AB051519; BAB21823.2; -; mRNA |
| EMBL | AF161554; AAF29041.1; ALT_FRAME; mRNA |
| EMBL | AF049103; AAC26194.1; -; mRNA |
| EMBL | AF049610; AAC26846.1; -; mRNA |
| CCDS | CCDS2749.2; -. [Q9BYW2-1]; . |
| RefSeq | NP_054878.5; NM_014159.6. [Q9BYW2-1]; . |
| UniGene | Hs.517941; -; . |
| PDB | 2A7O; NMR; -; A=2457-2564 |
| PDB | 2MDC; NMR; -; A=2385-2430 |
| PDB | 2MDI; NMR; -; A=2377-2430 |
| PDB | 2MDJ; NMR; -; A=2377-2430 |
| PDB | 4FMU; X-ray; 2.10 A; A=1434-1711 |
| PDB | 4H12; X-ray; 1.99 A; A=1434-1711 |
| PDB | 5JJY; X-ray; 2.05 A; A=1434-1711 |
| PDB | 5JLB; X-ray; 1.50 A; A=1434-1711 |
| PDB | 5JLE; X-ray; 2.40 A; A=1434-1711 |
| PDB | 5LSS; X-ray; 1.79 A; A=1433-1711 |
| PDB | 5LSX; X-ray; 2.90 A; A=1433-1711 |
| PDB | 5LSY; X-ray; 1.62 A; A=1433-1711 |
| PDB | 5LSZ; X-ray; 1.62 A; A=1433-1711 |
| PDB | 5LT6; X-ray; 2.05 A; A/B=1433-1711 |
| PDB | 5LT7; X-ray; 1.51 A; A=1433-1711 |
| PDB | 5LT8; X-ray; 1.57 A; A=1433-1711 |
| PDBsum | 2A7O; -; . |
| PDBsum | 2MDC; -; . |
| PDBsum | 2MDI; -; . |
| PDBsum | 2MDJ; -; . |
| PDBsum | 4FMU; -; . |
| PDBsum | 4H12; -; . |
| PDBsum | 5JJY; -; . |
| PDBsum | 5JLB; -; . |
| PDBsum | 5JLE; -; . |
| PDBsum | 5LSS; -; . |
| PDBsum | 5LSX; -; . |
| PDBsum | 5LSY; -; . |
| PDBsum | 5LSZ; -; . |
| PDBsum | 5LT6; -; . |
| PDBsum | 5LT7; -; . |
| PDBsum | 5LT8; -; . |
| ProteinModelPortal | Q9BYW2; -; . |
| SMR | Q9BYW2; -; . |
| BioGrid | 118845; 36; . |
| IntAct | Q9BYW2; 15; . |
| MINT | MINT-1537591; -; . |
| STRING | 9606.ENSP00000386759; -; . |
| BindingDB | Q9BYW2; -; . |
| ChEMBL | CHEMBL3108647; -; . |
| iPTMnet | Q9BYW2; -; . |
| PhosphoSitePlus | Q9BYW2; -; . |
| BioMuta | SETD2; -; . |
| DMDM | 296452963; -; . |
| OGP | Q9BYW2; -; . |
| EPD | Q9BYW2; -; . |
| MaxQB | Q9BYW2; -; . |
| PaxDb | Q9BYW2; -; . |
| PeptideAtlas | Q9BYW2; -; . |
| PRIDE | Q9BYW2; -; . |
| Ensembl | ENST00000409792; ENSP00000386759; ENSG00000181555. [Q9BYW2-1]; . |
| GeneID | 29072; -; . |
| KEGG | hsa:29072; -; . |
| UCSC | uc003cqs.4; human. [Q9BYW2-1]; . |
| CTD | 29072; -; . |
| DisGeNET | 29072; -; . |
| GeneCards | SETD2; -; . |
| H-InvDB | HIX0021942; -; . |
| H-InvDB | HIX0163343; -; . |
| HGNC | HGNC:18420; SETD2; . |
| HPA | HPA042451; -; . |
| MalaCards | SETD2; -; . |
| MIM | 144700; phenotype; . |
| MIM | 612778; gene; . |
| MIM | 616831; phenotype; . |
| neXtProt | NX_Q9BYW2; -; . |
| OpenTargets | ENSG00000181555; -; . |
| Orphanet | 821; Sotos syndrome; . |
| PharmGKB | PA143485612; -; . |
| eggNOG | KOG4442; Eukaryota; . |
| eggNOG | COG2940; LUCA; . |
| GeneTree | ENSGT00780000121845; -; . |
| HOVERGEN | HBG093939; -; . |
| InParanoid | Q9BYW2; -; . |
| KO | K11423; -; . |
| OMA | FIGHDSH; -; . |
| OrthoDB | EOG091G040P; -; . |
| PhylomeDB | Q9BYW2; -; . |
| TreeFam | TF106477; -; . |
| BRENDA | 2.1.1.43; 2681; . |
| Reactome | R-HSA-3214841; PKMTs methylate histone lysines; . |
| SignaLink | Q9BYW2; -; . |
| SIGNOR | Q9BYW2; -; . |
| ChiTaRS | SETD2; human; . |
| EvolutionaryTrace | Q9BYW2; -; . |
| GeneWiki | SETD2; -; . |
| GenomeRNAi | 29072; -; . |
| PRO | PR:Q9BYW2; -; . |
| Proteomes | UP000005640; Chromosome 3; . |
| Bgee | ENSG00000181555; -; . |
| CleanEx | HS_SETD2; -; . |
| ExpressionAtlas | Q9BYW2; baseline; . |
| Genevisible | Q9BYW2; HS; . |
| GO | GO:0005694; C:chromosome; IEA:UniProtKB-SubCell; . |
| GO | GO:0005654; C:nucleoplasm; TAS:Reactome; . |
| GO | GO:0046975; F:histone methyltransferase activity (H3-K36 specific); IDA:HGNC; . |
| GO | GO:0018024; F:histone-lysine N-methyltransferase activity; IDA:UniProtKB; . |
| GO | GO:0001525; P:angiogenesis; IEA:Ensembl; . |
| GO | GO:0035441; P:cell migration involved in vasculogenesis; IEA:Ensembl; . |
| GO | GO:0060977; P:coronary vasculature morphogenesis; IEA:Ensembl; . |
| GO | GO:0048701; P:embryonic cranial skeleton morphogenesis; IEA:Ensembl; . |
| GO | GO:0060669; P:embryonic placenta morphogenesis; IEA:Ensembl; . |
| GO | GO:0030900; P:forebrain development; IEA:Ensembl; . |
| GO | GO:0097676; P:histone H3-K36 dimethylation; IDA:HGNC; . |
| GO | GO:0097198; P:histone H3-K36 trimethylation; IDA:UniProtKB; . |
| GO | GO:0048332; P:mesoderm morphogenesis; IEA:Ensembl; . |
| GO | GO:0006298; P:mismatch repair; IMP:UniProtKB; . |
| GO | GO:0001763; P:morphogenesis of a branching structure; IEA:Ensembl; . |
| GO | GO:0001843; P:neural tube closure; IEA:Ensembl; . |
| GO | GO:0034728; P:nucleosome organization; IMP:UniProtKB; . |
| GO | GO:0060039; P:pericardium development; IEA:Ensembl; . |
| GO | GO:0010793; P:regulation of mRNA export from nucleus; IMP:UniProtKB; . |
| GO | GO:0006355; P:regulation of transcription; DNA-templated; IEA:UniProtKB-KW |
| GO | GO:0048864; P:stem cell development; IEA:Ensembl; . |
| GO | GO:0006368; P:transcription elongation from RNA polymerase II promoter; IMP:UniProtKB; . |
| InterPro | IPR006560; AWS_dom; . |
| InterPro | IPR003616; Post-SET_dom; . |
| InterPro | IPR001214; SET_dom; . |
| InterPro | IPR013257; SRI; . |
| InterPro | IPR001202; WW_dom; . |
| Pfam | PF00856; SET; 1; . |
| Pfam | PF08236; SRI; 1; . |
| Pfam | PF00397; WW; 1; . |
| SMART | SM00570; AWS; 1; . |
| SMART | SM00508; PostSET; 1; . |
| SMART | SM00317; SET; 1; . |
| SMART | SM00456; WW; 1; . |
| SUPFAM | SSF51045; SSF51045; 1; . |
| PROSITE | PS51215; AWS; 1; . |
| PROSITE | PS50868; POST_SET; 1; . |
| PROSITE | PS50280; SET; 1; . |
| PROSITE | PS01159; WW_DOMAIN_1; 1; . |
| PROSITE | PS50020; WW_DOMAIN_2; 1; . |