Gene
kmt2bb
- ID
- ZDB-GENE-080521-1
- Name
- lysine (K)-specific methyltransferase 2Bb
- Symbol
- kmt2bb Nomenclature History
- Previous Names
-
- mll4b
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have histone methyltransferase activity (H3-K4 specific). Predicted to be involved in histone H3-K4 methylation and positive regulation of transcription, DNA-templated. Predicted to localize to histone methyltransferase complex. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma; dystonia; and hepatocellular carcinoma. Orthologous to human KMT2B (lysine methyltransferase 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Sun et al., 2008
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| dystonia 28, childhood-onset | Alliance | Dystonia 28, childhood-onset | 617284 |
| Intellectual developmental disorder, autosomal dominant 68 | 619934 |
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 | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR002857 | Zinc finger, CXXC-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR034732 | Extended PHD (ePHD) domain |
| Domain | IPR047219 | Histone-lysine N-methyltransferase 2A/2B, SET domain |
| 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-like superfamily | Extended PHD (ePHD) domain | FY-rich, C-terminal | FY-rich, N-terminal | Histone-lysine N-methyltransferase 2A/2B, SET domain | Post-SET 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:F8W580
|
3772 | |||||||||||||
|
UniProtKB:A0A8M3AT01
|
3771 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kmt2bb-201
(1)
|
Ensembl | 15,341 nt | ||
| mRNA |
kmt2bb-202
(1)
|
Ensembl | 11,226 nt |
Interactions and Pathways
No data available
Plasmids
No data available