Gene
dnmt3bb.2
- ID
- ZDB-GENE-990712-11
- Name
- DNA (cytosine-5-)-methyltransferase 3 beta, duplicate b.2
- Symbol
- dnmt3bb.2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have methyltransferase activity. Involved in several processes, including exocrine pancreas development; eye morphogenesis; and pharyngeal system development. Human ortholog(s) of this gene implicated in several diseases, including acute myeloid leukemia; autoimmune thrombocytopenic purpura; carcinoma (multiple); immunodeficiency-centromeric instability-facial anomalies syndrome 1; and rheumatoid arthritis. Is expressed in several structures, including brain; digestive system; eye; musculature system; and pleuroperitoneal region. Orthologous to human DNMT3B (DNA methyltransferase 3 beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| facioscapulohumeral muscular dystrophy 4 | Alliance | Facioscapulohumeral muscular dystrophy 4, digenic | 619478 |
| immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Alliance | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR018117 | DNA methylase, C-5 cytosine-specific, active site |
| Domain | IPR000313 | PWWP domain |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR025766 | ADD domain |
| Domain | IPR040552 | DNMT3, cysteine rich ADD domain, GATA1-like zinc finger |
| Domain | IPR049554 | DNMT3, ADD domain, PHD zinc finger |
| Family | IPR001525 | C-5 cytosine methyltransferase |
| Homologous_superfamily | IPR029063 | S-adenosyl-L-methionine-dependent methyltransferase superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
Domain Details Per Protein
| Protein | Length | ADD domain | C-5 cytosine methyltransferase | Calponin homology domain | CH domain superfamily | DNA methylase, C-5 cytosine-specific, active site | DNMT3, ADD domain, PHD zinc finger | DNMT3, cysteine rich ADD domain, GATA1-like zinc finger | PWWP domain | S-adenosyl-L-methionine-dependent methyltransferase superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q588C7
|
1448 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dnmt3bb.2-201
(1)
|
Ensembl | 6,098 nt | ||
| mRNA |
dnmt3bb.2-202
(1)
|
Ensembl | 4,851 nt | ||
| ncRNA |
dnmt3bb.2-002
(1)
|
Ensembl | 527 nt |
Interactions and Pathways
No data available
Plasmids
No data available