| Gene Information | |
|---|---|
| Gene Name | KMT2C |
| Organism | Homo sapiens (Human) |
| Gene Length | 4911 |
| Protein Names | Histone-lysine N-methyltransferase 2C (Lysine N-methyltransferase 2C) (EC 2.1.1.364) (Homologous to ALR protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 3) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | >4290 ( ENSG00000055609 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | NA |
| Gene Card | KMT2C |
| Uniprot ID | Q8NEZ4 |
| Pfam | PF05965; PF05964; PF00628; PF00856 |
| In ASD | no |
| Allosteric Prediction | yes (0.6621165) |
| Ortholog in Animals | Alpaca_ KMT2C ( ortholog_one2one ) Alpaca_ KMT2C ( ortholog_one2many ) GuineaPig_ KMT2C ( ortholog_one2one ) Macaque_ KMT2C ( ortholog_one2one ) Mouse_ Kmt2c ( ortholog_one2one ) Pig_ KMT2C ( ortholog_one2one ) Rat_ Kmt2c ( ortholog_one2one ) Rabbit_ KMT2C ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | KMT2B, ASH1L, NSD3, EHMT2, SUV39H1, EZH1, KMT2A, SETBP1, SETD2, SETD1B, SETD1A, SUV39H2, EHMT1, KMT2D, NSD2, SETDB2, EZH2, NSD1, SETDB1 |
| Tissue | NA |
| Tissue Specificity | Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 2YSM (NMR - ) 2YUK (NMR - ) 3UVL (X-ray 2.20A ) 4ERY (X-ray 1.30A ) 5F59 (X-ray 2.80A ) 5F6K (X-ray 2.41A ) 6KIW (EM 4.00A ) 6MLC (X-ray 1.80A ) 7W6L (X-ray 2.26A ) |
| DBSNP | rs56850341 rs10454320 rs3735156 rs2838171 rs2838171 rs11771635 rs6951159 rs13231116 rs2270234 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:23508102}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |