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 enable histone H3K4 methyltransferase activity and transcription coactivator activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within chromatin organization; methylation; and regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of MLL3/4 complex. Human ortholog(s) of this gene implicated in Kleefstra syndrome 2; carcinoma (multiple); and stomach cancer. 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