Gene
dnmt3bb.3
- ID
- ZDB-GENE-050314-2
- Name
- DNA (cytosine-5-)-methyltransferase beta, duplicate b.3
- Symbol
- dnmt3bb.3 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates and DNA binding activity. Predicted to be involved in C-5 methylation of cytosine and negative regulation of transcription by RNA polymerase II. Predicted to act upstream of or within DNA methylation and regulation of gene expression. Predicted to be active in nucleus. Is expressed in several structures, including brain; digestive system; head; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); facioscapulohumeral muscular dystrophy; immunodeficiency-centromeric instability-facial anomalies syndrome 1; and thymoma. Orthologous to human DNMT3B (DNA methyltransferase 3 beta) and DNMT3L (DNA methyltransferase 3 like).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 4 figures from 3 publications
- 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 |
---|---|---|---|
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 |
---|---|---|
Domain | IPR000313 | PWWP 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 |
Domain Details Per Protein
Protein | Length | ADD domain | C-5 cytosine methyltransferase | 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:A3QJU7
|
1296 | ||||||
UniProtKB:Q588C5
|
1297 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
dnmt3bb.3-201
(1)
|
Ensembl | 3,891 nt | ||
mRNA |
dnmt3bb.3-202
(1)
|
Ensembl | 1,689 nt | ||
mRNA |
dnmt3bb.3-205
(1)
|
Ensembl | 4,418 nt | ||
mRNA |
dnmt3bb.3-206
(1)
|
Ensembl | 771 nt | ||
ncRNA |
dnmt3bb.3-004
(1)
|
Ensembl | 883 nt | ||
ncRNA |
dnmt3bb.3-005
(1)
|
Ensembl | 599 nt | ||
ncRNA |
dnmt3bb.3-006
(1)
|
Ensembl | 782 nt |
Interactions and Pathways
No data available
Plasmids
No data available