| Gene Information | |
|---|---|
| Gene Name | KMT2B |
| Organism | Homo sapiens (Human) |
| Gene Length | 2715 |
| Protein Names | Histone-lysine N-methyltransferase 2B (Lysine N-methyltransferase 2B) (EC 2.1.1.364) (Myeloid/lymphoid or mixed-lineage leukemia protein 4) (Trithorax homolog 2) (WW domain-binding protein 7) (WBP-7) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 332 ( ENSG00000272333 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | NA |
| Gene Card | KMT2B |
| Uniprot ID | Q9UMN6 |
| Pfam | PF05965; PF05964; PF00628; PF00856; PF02008 |
| In ASD | no |
| Allosteric Prediction | yes (0.067780758) |
| Ortholog in Animals | Alpaca_ KMT2B ( ortholog_one2one ) Dog_ KMT2B ( ortholog_one2one ) GuineaPig_ KMT2B ( ortholog_one2one ) Macaque_ KMT2B ( ortholog_one2one ) Mouse_ Kmt2b ( ortholog_one2one ) Pig_ KMT2B ( ortholog_one2one ) Rat_ Kmt2b ( ortholog_one2one ) Rabbit_ KMT2B ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ASH1L, NSD3, EHMT2, SUV39H1, EZH1, KMT2A, SETBP1, SETD2, SETD1B, SETD1A, SUV39H2, EHMT1, KMT2D, NSD2, SETDB2, EZH2, KMT2C, NSD1, SETDB1 |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often amplified in pancreatic carcinomas. {ECO:0000269|PubMed:27992417}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.022222(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3UVM (X-ray 1.57A ) 4ERZ (X-ray 1.75A ) 4PZI (X-ray 2.15A ) 7BRE (X-ray 2.80A ) |
| DBSNP | rs60207923 rs2242519 rs179686 rs34014681 rs1555731832 rs372432644 rs1555731980 rs1489232377 rs1555732094 rs16970649 rs231591 rs36062432 rs1057519285 rs1555735051 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:23508102}. |
| Mouse PG classification | NA |
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