Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.1.1.359
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine36 N-trimethyltransferase
2.1.1.367
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine9 N-methyltransferase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0050890 | cognition |
| Biological Process | GO:0032259 | methylation |
| Biological Process | GO:0016480 | negative regulation of transcription by RNA polymerase III |
| Biological Process | GO:0032784 | regulation of DNA-templated transcription elongation |
| Biological Process | GO:1902275 | regulation of chromatin organization |
| Biological Process | GO:0051963 | regulation of synapse assembly |
| Molecular Function | GO:0046975 | histone H3K36 methyltransferase activity |
| Molecular Function | GO:0140955 | histone H3K36 trimethyltransferase activity |
| Molecular Function | GO:0046974 | histone H3K9 methyltransferase activity |
| Molecular Function | GO:0140948 | histone H3K9 monomethyltransferase activity |
| Molecular Function | GO:0140947 | histone H3K9me2 methyltransferase activity |
| Molecular Function | GO:0003714 | transcription corepressor activity |
| Cellular Component | GO:0000785 | chromatin |
| Cellular Component | GO:0000791 | euchromatin |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Chromosome | ECO:0000250 | |
| Nucleus | ECO:0000250 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000175 | Cleft palate |
| HP:0000190 | Abnormal oral frenulum morphology |
| HP:0000193 | Bifid uvula |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000248 | Brachycephaly |
| HP:0000294 | Low anterior hairline |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000369 | Low-set ears |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000540 | Hypermetropia |
| HP:0000545 | Myopia |
| HP:0000568 | Microphthalmia |
| HP:0000581 | Blepharophimosis |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000664 | Synophrys |
| HP:0000678 | Dental crowding |
| HP:0000722 | Compulsive behaviors |
| HP:0000729 | Autistic behavior |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000960 | Sacral dimple |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001488 | Bilateral ptosis |
| HP:0001627 | Abnormal heart morphology |
| HP:0001629 | Ventricular septal defect |
| HP:0001830 | Postaxial foot polydactyly |
| HP:0001852 | Sandal gap |
| HP:0002002 | Deep philtrum |
| HP:0002194 | Delayed gross motor development |
| HP:0002307 | Drooling |
| HP:0002360 | Sleep disturbance |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0002553 | Highly arched eyebrow |
| HP:0002566 | Intestinal malrotation |
| HP:0002650 | Scoliosis |
| HP:0002714 | Downturned corners of mouth |
| HP:0002808 | Kyphosis |
| HP:0003307 | Hyperlordosis |
| HP:0003593 | Infantile onset |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0005105 | Abnormal nasal morphology |
| HP:0005280 | Depressed nasal bridge |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0009836 | Broad distal phalanx of finger |
| HP:0010663 | Abnormality of thalamus morphology |
| HP:0011968 | Feeding difficulties |
| HP:0012377 | Hemianopia |
| HP:0012450 | Chronic constipation |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract |
| HP:0031936 | Delayed ability to walk |
| HP:0100259 | Postaxial polydactyly |
| HP:0100559 | Lower limb asymmetry |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | High | Approved |
| appendix | glandular cells | Medium | Approved |
| bone marrow | hematopoietic cells | High | Approved |
| breast | glandular cells | Medium | Approved |
| bronchus | basal cells | Medium | Approved |
| bronchus | ciliated cells (cell body) | Medium | Approved |
| bronchus | goblet cells | Medium | Approved |
| caudate | glial cells | Low | Approved |
| caudate | neuronal cells | Medium | Approved |
| cerebellum | Purkinje cells | High | Approved |
| cerebellum | cells in granular layer | Low | Approved |
| cerebral cortex | endothelial cells | Medium | Approved |
| cerebral cortex | glial cells | Low | Approved |
| cerebral cortex | neuronal cells | High | Approved |
| cervix | glandular cells | Medium | Approved |
| cervix | squamous epithelial cells | Medium | Approved |
| colon | endothelial cells | Low | Approved |
| colon | glandular cells | Medium | Approved |
| colon | peripheral nerve/ganglion | Low | Approved |
| duodenum | glandular cells | Medium | Approved |
| endometrium 1 | cells in endometrial stroma | Low | Approved |
| endometrium 1 | glandular cells | High | Approved |
| endometrium 2 | cells in endometrial stroma | Low | Approved |
| endometrium 2 | glandular cells | High | Approved |
| epididymis | glandular cells | Medium | Approved |
| esophagus | squamous epithelial cells | High | Approved |
| fallopian tube | non-ciliated cells | Medium | Approved |
| gallbladder | glandular cells | Medium | Approved |
| heart muscle | cardiomyocytes | Medium | Approved |
| hippocampus | neuronal cells | High | Approved |
| kidney | cells in glomeruli | Medium | Approved |
| kidney | cells in tubules | High | Approved |
| liver | cholangiocytes | Medium | Approved |
| liver | hepatocytes | Medium | Approved |
| lung | alveolar cells | High | Approved |
| lung | macrophages | Medium | Approved |
| lymph node | germinal center cells | Medium | Approved |
| lymph node | non-germinal center cells | Medium | Approved |
| nasopharynx | basal cells | High | Approved |
| nasopharynx | ciliated cells (cell body) | High | Approved |
| oral mucosa | squamous epithelial cells | Medium | Approved |
| ovary | follicle cells | Medium | Approved |
| pancreas | exocrine glandular cells | Medium | Approved |
| pancreas | pancreatic endocrine cells | Medium | Approved |
| parathyroid gland | glandular cells | Medium | Approved |
| placenta | decidual cells | Medium | Approved |
| placenta | trophoblastic cells | Medium | Approved |
| prostate | glandular cells | Medium | Approved |
| rectum | glandular cells | High | Approved |
| salivary gland | glandular cells | Medium | Approved |
| seminal vesicle | glandular cells | Low | Approved |
| skeletal muscle | myocytes | Medium | Approved |
| skin 1 | Langerhans | Medium | Approved |
| skin 1 | fibroblasts | Medium | Approved |
| skin 1 | keratinocytes | Medium | Approved |
| skin 1 | melanocytes | Medium | Approved |
| skin 2 | epidermal cells | High | Approved |
| small intestine | glandular cells | Medium | Approved |
| smooth muscle | smooth muscle cells | High | Approved |
| soft tissue 1 | chondrocytes | Low | Approved |
| soft tissue 1 | peripheral nerve | Low | Approved |
| spleen | cells in red pulp | Medium | Approved |
| spleen | cells in white pulp | Low | Approved |
| stomach 1 | glandular cells | Medium | Approved |
| stomach 2 | glandular cells | Medium | Approved |
| testis | Leydig cells | Medium | Approved |
| testis | cells in seminiferous ducts | High | Approved |
| thyroid gland | glandular cells | High | Approved |
| tonsil | germinal center cells | Medium | Approved |
| tonsil | non-germinal center cells | Low | Approved |
| tonsil | squamous epithelial cells | Low | Approved |
| urinary bladder | urothelial cells | Medium | Approved |
| vagina | squamous epithelial cells | Medium | Approved |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency | MONDO:0014336 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:615761 | Orphanet:404440 |
| nk-cell enteropathy | MONDO:0016996 | K63 | chapter11, Diseases of the digestive system | Orphanet:263665 |