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 enable histone H3K4 methyltransferase activity. Predicted to be involved in histone H3-K4 methylation and positive regulation of DNA-templated transcription. Predicted to act upstream of or within chromatin organization and methylation. Predicted to be located in nucleus. Predicted to be part of histone methyltransferase complex. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder; 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