Gene
ophn1
- ID
- ZDB-GENE-040718-464
- Name
- oligophrenin 1
- Symbol
- ophn1 Nomenclature History
- Previous Names
-
- zgc:92603
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have GTPase activator activity. Predicted to be involved in signal transduction. Human ortholog(s) of this gene implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Orthologous to human OPHN1 (oligophrenin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7143187 (1 image)
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 |
|---|---|---|---|
| X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | Alliance | Intellectual developmental disorder, X-linked syndromic, Billuart type | 300486 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | AH/BAR domain superfamily | BAR domain | GRAF family |
|---|---|---|---|---|
|
UniProtKB:Q6DH84
|
266 |
Interactions and Pathways
No data available
Plasmids
No data available