Gene
kmt2d
- ID
- ZDB-GENE-060223-2
- Name
- lysine (K)-specific methyltransferase 2D
- Symbol
- kmt2d Nomenclature History
- Previous Names
-
- mll2
- im:7157663
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Involved in animal organ development and convergent extension involved in gastrulation. Predicted to localize to MLL3/4 complex. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Orthologous to human KMT2D (lysine methyltransferase 2D).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7157663 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 29 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Kabuki syndrome | Alliance | Kabuki syndrome 1 | 147920 |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | 620186 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M6YVY3
|
4966 |
UniProtKB:A0A8M6YXU3
|
4949 |
UniProtKB:A0A8M3B696
|
4967 |
Interactions and Pathways
No data available
Plasmids
No data available