Gene
ctcf
- ID
- ZDB-GENE-040624-5
- Name
- CCCTC-binding factor (zinc finger protein)
- Symbol
- ctcf Nomenclature History
- Previous Names
-
- im:7152666
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Exhibits chromatin binding activity. Involved in regulation of transcription by RNA polymerase II and skeletal muscle tissue development. Predicted to localize to nuclear chromatin. Is expressed in brain; digestive system; immature eye; notochord; and somite. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 21. Orthologous to human CTCF (CCCTC-binding factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152666 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 21 | Alliance | Intellectual developmental disorder, autosomal dominant 21 | 615502 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|
|
UniProtKB:Q6JAA4
|
798 |
Interactions and Pathways
No data available
Plasmids
No data available