Gene
nf2a
- ID
- ZDB-GENE-080722-7
- Name
- NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor a
- Symbol
- nf2a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have actin binding activity. Predicted to localize to cytoskeleton. Human ortholog(s) of this gene implicated in familial meningioma; neurilemmomatosis; and neurofibromatosis 2. Orthologous to human NF2 (neurofibromin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Yi et al., 2018
- 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 |
|---|---|---|---|
| vestibular schwannomatosis | Alliance | Schwannomatosis, somatic | 101000 |
| vestibular schwannomatosis | Alliance | Schwannomatosis, vestibular | 101000 |
| Meningioma, NF2-related, somatic | 607174 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019747 | FERM conserved site |
| Domain | IPR000299 | FERM domain |
| Domain | IPR011259 | Ezrin/radixin/moesin, C-terminal |
| Domain | IPR018979 | FERM, N-terminal |
| Domain | IPR018980 | FERM, C-terminal PH-like domain |
| Domain | IPR019748 | FERM central domain |
| Domain | IPR019749 | Band 4.1 domain |
| Domain | IPR041789 | ERM family, FERM domain C-lobe |
| Domain | IPR046810 | Ezrin/radixin/moesin, alpha-helical domain |
| Family | IPR000798 | Ezrin/radixin/moesin-like |
| Family | IPR011174 | Ezrin/radixin/moesin |
| Homologous_superfamily | IPR008954 | Moesin tail domain superfamily |
| Homologous_superfamily | IPR011993 | PH-like domain superfamily |
| Homologous_superfamily | IPR014352 | FERM/acyl-CoA-binding protein superfamily |
| Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
| Homologous_superfamily | IPR035963 | FERM superfamily, second domain |
Domain Details Per Protein
| Protein | Length | Band 4.1 domain | ERM family, FERM domain C-lobe | Ezrin/radixin/moesin | Ezrin/radixin/moesin, alpha-helical domain | Ezrin/radixin/moesin, C-terminal | Ezrin/radixin/moesin-like | FERM/acyl-CoA-binding protein superfamily | FERM central domain | FERM conserved site | FERM, C-terminal PH-like domain | FERM domain | FERM, N-terminal | FERM superfamily, second domain | Moesin tail domain superfamily | PH-like domain superfamily | Ubiquitin-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B3DGL5
|
593 |
Interactions and Pathways
No data available
Plasmids
No data available