Gene
fmn2b
- ID
- ZDB-GENE-080225-35
- Name
- formin 2b
- Symbol
- fmn2b Nomenclature History
- Previous Names
-
- im:7158925
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have microtubule binding activity. Predicted to be involved in formin-nucleated actin cable assembly and intracellular transport. Predicted to localize to cytoplasm; endoplasmic reticulum membrane; and nucleus. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Is expressed in central nervous system. Orthologous to human FMN2 (formin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158925 (7 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Nagar et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 47 | Alliance | Intellectual developmental disorder, autosomal recessive 47 | 616193 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Formin, FH2 domain | Formin, FH2 domain superfamily | Formin homology family, Cappuccino subfamily |
|---|---|---|---|---|
|
UniProtKB:A0A2R8QAK8
|
1479 | |||
|
UniProtKB:A0A8M3B7Q6
|
1473 | |||
|
UniProtKB:A0A8M3AYR9
|
869 | |||
|
UniProtKB:A0A8M3B4X8
|
1460 |
Interactions and Pathways
No data available
Plasmids
No data available