Gene
kmt2cb
- ID
- ZDB-GENE-070705-340
- Name
- lysine (K)-specific methyltransferase 2Cb
- Symbol
- kmt2cb Nomenclature History
- Previous Names
-
- mll3b
- si:dkey-193e13.2
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to localize to MLL3/4 complex. Human ortholog(s) of this gene implicated in Kleefstra syndrome 2; esophagus squamous cell carcinoma; and squamous cell carcinoma. Orthologous to human KMT2C (lysine methyltransferase 2C).
- 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 |
|---|---|---|---|
| Kleefstra syndrome 2 | Alliance | Kleefstra syndrome 2 | 617768 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000637 | HMG-I/HMG-Y, DNA-binding, conserved site |
| Conserved_site | IPR003888 | FY-rich, N-terminal |
| Conserved_site | IPR003889 | FY-rich, C-terminal |
| Domain | IPR001214 | SET domain |
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR003616 | Post-SET domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR034732 | Extended PHD (ePHD) domain |
| Domain | IPR037877 | HMT2C, PHD3 |
| Domain | IPR047004 | KMT2C, PHD2 domain |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR036910 | High mobility group box domain superfamily |
| Homologous_superfamily | IPR046341 | SET domain superfamily |
Domain Details Per Protein
| Protein | Length | Extended PHD (ePHD) domain | FY-rich, C-terminal | FY-rich, N-terminal | High mobility group box domain superfamily | HMG-I/HMG-Y, DNA-binding, conserved site | HMT2C, PHD3 | KMT2C, PHD2 domain | Post-SET domain | SET domain | SET domain superfamily | Zinc finger, FYVE/PHD-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AWQ1
|
4854 | |||||||||||||||
|
UniProtKB:A0A8M6Z169
|
4853 | |||||||||||||||
|
UniProtKB:A0A8M3AP79
|
4841 | |||||||||||||||
|
UniProtKB:A0A8M6Z161
|
4891 | |||||||||||||||
|
UniProtKB:A0A8M3APU4
|
4876 | |||||||||||||||
|
UniProtKB:A0A8M6YVA2
|
4891 | |||||||||||||||
|
UniProtKB:A0A8M3B7B2
|
4892 | |||||||||||||||
|
UniProtKB:A0A8M2BAF3
|
4891 | |||||||||||||||
|
UniProtKB:A0A8M2BAH2
|
4880 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kmt2cb-201
(1)
|
Ensembl | 17,074 nt | ||
| mRNA |
kmt2cb-202
(1)
|
Ensembl | 3,282 nt |
Interactions and Pathways
No data available
Plasmids
No data available