Gene
frmd5b
- ID
- ZDB-GENE-060810-165
- Name
- FERM domain containing 5b
- Symbol
- frmd5b Nomenclature History
- Previous Names
-
- frmd5
- im:7161681
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be involved in actomyosin structure organization. Predicted to be located in membrane. Predicted to be active in cytoskeleton. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. Orthologous to human FRMD5 (FERM domain containing 5).
- 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:7161681 (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 |
---|---|---|---|
neurodevelopmental disorder with eye movement abnormalities and ataxia | Alliance | Neurodevelopmental disorder with eye movement abnormalities and ataxia | 620094 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019747 | FERM conserved site |
Domain | IPR000299 | FERM domain |
Domain | IPR014847 | FERM adjacent |
Domain | IPR018979 | FERM, N-terminal |
Domain | IPR018980 | FERM, C-terminal PH-like domain |
Domain | IPR019748 | FERM central domain |
Domain | IPR019749 | Band 4.1 domain |
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 | Additional Resources | Length | Band 4.1 domain | FERM/acyl-CoA-binding protein superfamily | FERM adjacent | FERM central domain | FERM conserved site | FERM, C-terminal PH-like domain | FERM domain | FERM, N-terminal | FERM superfamily, second domain | PH-like domain superfamily | Ubiquitin-like domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7F1C5 | InterPro | 571 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
aberrant processed transcript |
frmd5b-202
(1)
|
Ensembl | 510 nt | ||
mRNA |
frmd5b-201
(1)
|
Ensembl | 5,558 nt | ||
mRNA |
frmd5b-205
(1)
|
Ensembl | 783 nt | ||
ncRNA |
frmd5b-203
(1)
|
Ensembl | 695 nt | ||
ncRNA |
frmd5b-204
(1)
|
Ensembl | 789 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance