| Gene Information | |
|---|---|
| Gene Name | KMT2H |
| Organism | Homo sapiens (Human) |
| Gene Length | 2969 |
| Protein Names | Histone-lysine N-methyltransferase ASH1L (EC 2.1.1.359) (EC 2.1.1.367) (ASH1-like protein) (huASH1) (Absent small and homeotic disks protein 1 homolog) (Lysine N-methyltransferase 2H) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | NA |
| Gene Card | ASH1L |
| Uniprot ID | Q9NR48 |
| Pfam | PF17907; PF01426; PF00439; PF00856 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed, with highest level in brain, heart and kidney. {ECO:0000269|PubMed:10860993}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.028571(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 3MQM (X-ray 2.54A ) 3OPE (X-ray 2.90A ) 4YNM (X-ray 2.19A ) 4YNP (X-ray 2.90A ) 4YPA (X-ray 2.30A ) 4YPE (X-ray 2.20A ) 4YPU (X-ray 2.60A ) 6AGO (X-ray 3.10A ) 6INE (X-ray 2.60A ) 6WZW (X-ray 1.69A ) 6X0P (X-ray 1.69A ) |
| DBSNP | rs186255422 rs1293246328 rs539982914 rs13373934 rs4971053 rs753734834 rs749494995 rs753029013 rs1553241570 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:10860993}. Cell junction, tight junction {ECO:0000269|PubMed:10860993}. Chromosome {ECO:0000305|PubMed:10860993}. Note=The relevance of tight junction localization is however unclear. {ECO:0000269|PubMed:10860993}. |
| Mouse PG classification | NA |
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