Gene
kmt2a
- ID
- ZDB-GENE-080521-3
- Name
- lysine (K)-specific methyltransferase 2A
- Symbol
- kmt2a Nomenclature History
- Previous Names
-
- mll
- im:7148357
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have histone methyltransferase activity (H3-K4 specific). Involved in glial cell development; nucleate erythrocyte development; and paraxial mesoderm development. Predicted to localize to histone methyltransferase complex. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; mixed phenotype acute leukemia; and non-Hodgkin lymphoma. Is expressed in several structures, including blastoderm; blastodisc; intermediate cell mass of mesoderm; nervous system; and renal system. Orthologous to human KMT2A (lysine methyltransferase 2A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7148357 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Wiedemann-Steiner syndrome | 605130 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR003888 | FY-rich, N-terminal |
| Conserved_site | IPR003889 | FY-rich, C-terminal |
| Domain | IPR001214 | SET domain |
| Domain | IPR001487 | Bromodomain |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR002857 | Zinc finger, CXXC-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR034732 | Extended PHD (ePHD) domain |
| Domain | IPR041958 | KMT2A, ePHD domain |
| Domain | IPR042023 | KMT2A, PHD domain 1 |
| Domain | IPR042025 | KMT2A, PHD domain 2 |
| Domain | IPR044133 | KMT2A, PHD domain 3 |
| Family | IPR016569 | Methyltransferase, trithorax |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR036427 | Bromodomain-like superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
Domain Details Per Protein
| Protein | Length | Bromodomain | Bromodomain-like superfamily | Extended PHD (ePHD) domain | FY-rich, C-terminal | FY-rich, N-terminal | KMT2A, ePHD domain | KMT2A, PHD domain 1 | KMT2A, PHD domain 2 | KMT2A, PHD domain 3 | Methyltransferase, trithorax | Post-SET domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | SET domain | SET domain superfamily | Zinc finger, CXXC-type | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1QL52
|
4219 | |||||||||||||||||||
|
UniProtKB:A8VKP8
|
4218 |
Interactions and Pathways
No data available
Plasmids
No data available