Gene
zbtb18
- ID
- ZDB-GENE-050419-73
- Name
- zinc finger and BTB domain containing 18
- Symbol
- zbtb18 Nomenclature History
- Previous Names
-
- si:ch211-221n23.1
- znf238
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity and metal ion binding activity. Predicted to be involved in cellular response to DNA damage stimulus. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability 22. Is expressed in brain; optic cup; and somite. Orthologous to human ZBTB18 (zinc finger and BTB domain containing 18).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 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 |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 22 | Alliance | Intellectual developmental disorder, autosomal dominant 22 | 612337 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BTB/POZ domain | SKP1/BTB/POZ domain superfamily | Zinc finger C2H2 superfamily | Zinc finger C2H2-type |
|---|---|---|---|---|---|
|
UniProtKB:Q1L8W0
|
537 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zbtb18-201
(1)
|
Ensembl | 638 nt | ||
| mRNA |
zbtb18-202
(1)
|
Ensembl | 6,971 nt | ||
| mRNA |
zbtb18-203
(1)
|
Ensembl | 2,485 nt |
Interactions and Pathways
No data available
Plasmids