Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.1.-
Transferases;
Transferring one-carbon groups;
Methyltransferases;
2.1.1.359
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine36 N-trimethyltransferase
PDB | Resolution (Å) | PDB name |
---|---|---|
2A7O | Solution Structure of the hSet2/HYPB SRI domain | |
2MDC | Solution structure of the WW domain of HYPB | |
2MDI | Solution structure of the PP2WW mutant (KPP2WW) of HYPB | |
2MDJ | Solution structure of WW domain with polyproline stretch (PP2WW) of HYPB | |
4FMU | 2.1 | Crystal structure of Methyltransferase domain of human SET domain-containing protein 2 Compound: Pr-SNF |
4H12 | 2.06 | The crystal structure of methyltransferase domain of human SET domain-containing protein 2 in complex with S-adenosyl-L-homocysteine |
5JJY | 2.053 | Crystal structure of SETD2 bound to histone H3.3 K36M peptide |
5JLB | 1.5 | Crystal structure of SETD2 bound to histone H3.3 K36I peptide |
5JLE | 2.4 | Crystal structure of SETD2 bound to SAH |
5LSS | 1.79 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LSX | 2.9 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LSY | 1.62 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LSZ | 1.62 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LT6 | 2.05 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LT7 | 1.51 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5LT8 | 1.57 | Structure of the Epigenetic Oncogene MMSET and inhibition by N-Alkyl Sinefungin Derivatives |
5V21 | 2.415 | Crystal structure of human SETD2 SET-domain in complex with H3K36M peptide and SAM |
5V22 | 2.4 | Crystal structure of human SETD2 SET-domain in complex with H3K36M peptide and SAH |
6J9J | 1.78 | crystal structure of SESTD2 in complex with H3.3S31phK36M peptide |
6VDB | 2.3 | SETD2 in complex with a H3-variant super-substrate peptide |
7EA8 | 3.1 | Human SETD2 bound to a nucleosome containing oncohistone mutations |
7EVR | 1.8 | Crystal structure of hnRNP L RRM2 in complex with SETD2 |
7EVS | 1.6 | Crystal structure of hnRNP LL RRM2 in complex with SETD2 |
7LZB | 2.28 | Crystal Structure of SETD2 bound to Compound 2 |
7LZD | 1.8 | Crystal Structure of SETD2 bound to Compound 35 |
7LZF | 2.47 | Crystal Structure of SETD2 bound to Compound 57 |
7TY2 | 2.438 | Crystal Structure of SETD2 Bound to an Indole-based Inhibitor |
7TY3 | 2.3 | Crystal Structure of SETD2 Bound to an Indole-based Inhibitor |
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0001525 | angiogenesis |
Biological Process | GO:0035441 | cell migration involved in vasculogenesis |
Biological Process | GO:0060977 | coronary vasculature morphogenesis |
Biological Process | GO:0051607 | defense response to virus |
Biological Process | GO:0048701 | embryonic cranial skeleton morphogenesis |
Biological Process | GO:0060669 | embryonic placenta morphogenesis |
Biological Process | GO:0035987 | endodermal cell differentiation |
Biological Process | GO:0030900 | forebrain development |
Biological Process | GO:0097676 | histone H3-K36 dimethylation |
Biological Process | GO:0097198 | histone H3-K36 trimethylation |
Biological Process | GO:0048332 | mesoderm morphogenesis |
Biological Process | GO:1902850 | microtubule cytoskeleton organization involved in mitosis |
Biological Process | GO:0006298 | mismatch repair |
Biological Process | GO:0001763 | morphogenesis of a branching structure |
Biological Process | GO:0001843 | neural tube closure |
Biological Process | GO:0034728 | nucleosome organization |
Biological Process | GO:0018023 | peptidyl-lysine trimethylation |
Biological Process | GO:0060039 | pericardium development |
Biological Process | GO:0010508 | positive regulation of autophagy |
Biological Process | GO:0032727 | positive regulation of interferon-alpha production |
Biological Process | GO:0006355 | regulation of DNA-templated transcription |
Biological Process | GO:0032465 | regulation of cytokinesis |
Biological Process | GO:0010569 | regulation of double-strand break repair via homologous recombination |
Biological Process | GO:0010468 | regulation of gene expression |
Biological Process | GO:0010793 | regulation of mRNA export from nucleus |
Biological Process | GO:1905634 | regulation of protein localization to chromatin |
Biological Process | GO:0034340 | response to type I interferon |
Biological Process | GO:0048864 | stem cell development |
Biological Process | GO:0048863 | stem cell differentiation |
Biological Process | GO:0006368 | transcription elongation by RNA polymerase II |
Molecular Function | GO:0043014 | alpha-tubulin binding |
Molecular Function | GO:0046975 | histone H3K36 methyltransferase activity |
Molecular Function | GO:0140955 | histone H3K36 trimethyltransferase activity |
Molecular Function | GO:0046872 | metal ion binding |
Molecular Function | GO:0016279 | protein-lysine N-methyltransferase activity |
Cellular Component | GO:0005694 | chromosome |
Cellular Component | GO:0005737 | cytoplasm |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0005634 | nucleus |
InterPro | InterPro name |
---|---|
IPR001202 | WW domain |
IPR001214 | SET domain |
IPR003616 | Post-SET domain |
IPR006560 | AWS domain |
IPR013257 | Set2 Rpb1 interacting domain |
IPR035441 | TFIIS/LEDGF domain superfamily |
IPR036020 | WW domain superfamily |
IPR038190 | Set2 Rpb1 interacting domain superfamily |
IPR042294 | Histone-lysine N-methyltransferase SETD2, animal |
IPR044437 | SETD2/Set2, SET domain |
IPR046341 | SET domain superfamily |
Pfam | Pfam name |
---|---|
PF00397 | WW domain |
PF00856 | SET domain |
PF08236 | SRI (Set2 Rpb1 interacting) domain |
PF17907 | AWS domain |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-3214841 | PKMTs methylate histone lysines | Leaf | R-HSA-4839726 | Chromatin organization |
Location | ECO term | Pubmed |
---|---|---|
Chromosome | ECO:0000250 | |
Nucleus | ECO:0000250 |
HPO ID | HPO name |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000023 | Inguinal hernia |
HP:0000028 | Cryptorchidism |
HP:0000034 | Hydrocele testis |
HP:0000047 | Hypospadias |
HP:0000073 | Ureteral duplication |
HP:0000074 | Ureteropelvic junction obstruction |
HP:0000076 | Vesicoureteral reflux |
HP:0000077 | Abnormality of the kidney |
HP:0000083 | Renal insufficiency |
HP:0000098 | Tall stature |
HP:0000104 | Renal agenesis |
HP:0000126 | Hydronephrosis |
HP:0000144 | Decreased fertility |
HP:0000147 | Polycystic ovaries |
HP:0000164 | Abnormality of the dentition |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000272 | Malar flattening |
HP:0000275 | Narrow face |
HP:0000276 | Long face |
HP:0000278 | Retrognathia |
HP:0000280 | Coarse facial features |
HP:0000303 | Mandibular prognathia |
HP:0000307 | Pointed chin |
HP:0000316 | Hypertelorism |
HP:0000327 | Hypoplasia of the maxilla |
HP:0000347 | Micrognathia |
HP:0000348 | High forehead |
HP:0000365 | Hearing impairment |
HP:0000389 | Chronic otitis media |
HP:0000403 | Recurrent otitis media |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000431 | Wide nasal bridge |
HP:0000455 | Broad nasal tip |
HP:0000483 | Astigmatism |
HP:0000486 | Strabismus |
HP:0000494 | Downslanted palpebral fissures |
HP:0000518 | Cataract |
HP:0000540 | Hypermetropia |
HP:0000541 | Retinal detachment |
HP:0000545 | Myopia |
HP:0000582 | Upslanted palpebral fissure |
HP:0000609 | Optic nerve hypoplasia |
HP:0000629 | Periorbital fullness |
HP:0000639 | Nystagmus |
HP:0000668 | Hypodontia |
HP:0000696 | Delayed eruption of permanent teeth |
HP:0000708 | Atypical behavior |
HP:0000717 | Autism |
HP:0000718 | Aggressive behavior |
HP:0000729 | Autistic behavior |
HP:0000739 | Anxiety |
HP:0000750 | Delayed speech and language development |
HP:0000767 | Pectus excavatum |
HP:0000821 | Hypothyroidism |
HP:0000858 | Irregular menstruation |
HP:0000953 | Hyperpigmentation of the skin |
HP:0001007 | Hirsutism |
HP:0001010 | Hypopigmentation of the skin |
HP:0001028 | Hemangioma |
HP:0001176 | Large hands |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001256 | Intellectual disability, mild |
HP:0001263 | Global developmental delay |
HP:0001290 | Generalized hypotonia |
HP:0001320 | Cerebellar vermis hypoplasia |
HP:0001321 | Cerebellar hypoplasia |
HP:0001337 | Tremor |
HP:0001350 | Slurred speech |
HP:0001363 | Craniosynostosis |
HP:0001371 | Flexion contracture |
HP:0001388 | Joint laxity |
HP:0001508 | Failure to thrive |
HP:0001513 | Obesity |
HP:0001531 | Failure to thrive in infancy |
HP:0001537 | Umbilical hernia |
HP:0001548 | Overgrowth |
HP:0001627 | Abnormal heart morphology |
HP:0001629 | Ventricular septal defect |
HP:0001631 | Atrial septal defect |
HP:0001643 | Patent ductus arteriosus |
HP:0001741 | Phimosis |
HP:0001762 | Talipes equinovarus |
HP:0001763 | Pes planus |
HP:0001792 | Small nail |
HP:0001833 | Long foot |
HP:0001998 | Neonatal hypoglycemia |
HP:0002019 | Constipation |
HP:0002020 | Gastroesophageal reflux |
HP:0002059 | Cerebral atrophy |
HP:0002069 | Bilateral tonic-clonic seizure |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002119 | Ventriculomegaly |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002123 | Generalized myoclonic seizure |
HP:0002251 | Aganglionic megacolon |
HP:0002280 | Enlarged cisterna magna |
HP:0002308 | Chiari malformation |
HP:0002342 | Intellectual disability, moderate |
HP:0002370 | Poor coordination |
HP:0002384 | Focal impaired awareness seizure |
HP:0002389 | Cavum septum pellucidum |
HP:0002442 | Dyscalculia |
HP:0002553 | Highly arched eyebrow |
HP:0002591 | Polyphagia |
HP:0002650 | Scoliosis |
HP:0002664 | Neoplasm |
HP:0002779 | Tracheomalacia |
HP:0002791 | Hypoventilation |
HP:0002808 | Kyphosis |
HP:0002902 | Hyponatremia |
HP:0003006 | Neuroblastoma |
HP:0003072 | Hypercalcemia |
HP:0003189 | Long nose |
HP:0003273 | Hip contracture |
HP:0003396 | Syringomyelia |
HP:0003468 | Abnormal vertebral morphology |
HP:0004233 | Advanced ossification of carpal bones |
HP:0004322 | Short stature |
HP:0004691 | 2-3 toe syndactyly |
HP:0004768 | Sparse anterior scalp hair |
HP:0004942 | Aortic aneurysm |
HP:0005490 | Postnatal macrocephaly |
HP:0005616 | Accelerated skeletal maturation |
HP:0005617 | Bilateral camptodactyly |
HP:0006466 | Ankle flexion contracture |
HP:0006579 | Prolonged neonatal jaundice |
HP:0006721 | Acute lymphoblastic leukemia |
HP:0007018 | Attention deficit hyperactivity disorder |
HP:0007099 | Chiari type I malformation |
HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
HP:0007763 | Retinal telangiectasia |
HP:0008498 | No permanent dentition |
HP:0009592 | Astrocytoma |
HP:0009765 | Low hanging columella |
HP:0009797 | Cholesteatoma |
HP:0009890 | High anterior hairline |
HP:0010741 | Pedal edema |
HP:0010864 | Intellectual disability, severe |
HP:0010957 | Congenital posterior urethral valve |
HP:0011220 | Prominent forehead |
HP:0011968 | Feeding difficulties |
HP:0012110 | Hypoplasia of the pons |
HP:0012745 | Short palpebral fissure |
HP:0012771 | Increased arm span |
HP:0030357 | Small cell lung carcinoma |
HP:0030736 | Sacrococcygeal teratoma |
HP:0031284 | Flushing |
HP:0032447 | Pulmonary bleb |
HP:0040194 | Increased head circumference |
HP:0100962 | Shyness |
HP:0400000 | Tall chin |
HP:0410263 | Brain imaging abnormality |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
nonpapillary renal cell carcinoma | MONDO:0007763 | C64 | chapter2, Neoplasms | OMIM:144700 | |
dandy-walker syndrome | MONDO:0009072 | Q03 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:220200 | Orphanet:217 |
leukemia, acute lymphocytic, susceptibility to, 1 | MONDO:0013108 | C91 | chapter2, Neoplasms | OMIM:613065 | |
luscan-lumish syndrome | MONDO:0014791 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:616831 | Orphanet:597738 |
acute myeloid leukemia | MONDO:0018874 | C92 | chapter2, Neoplasms | OMIM:601626 | Orphanet:519 |
sotos syndrome | MONDO:0019349 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIMPS:117550 | Orphanet:821 |