Gene
fig4a
- ID
- ZDB-GENE-130213-1
- Name
- FIG4 phosphoinositide 5-phosphatase a
- Symbol
- fig4a Nomenclature History
- Previous Names
-
- fig4
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome; and amyotrophic lateral sclerosis type 11. Orthologous to human FIG4 (FIG4 phosphoinositide 5-phosphatase).
- Genome Resources
-
- Alliance (1)
- Gene:100334605 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Bao et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| amyotrophic lateral sclerosis type 11 | Alliance | Amyotrophic lateral sclerosis 11 | 612577 |
| bilateral parasagittal parieto-occipital polymicrogyria | Alliance | ?Polymicrogyria, bilateral temporooccipital | 612691 |
| Charcot-Marie-Tooth disease type 4J | Alliance | Charcot-Marie-Tooth disease, type 4J | 611228 |
| Yunis-Varon syndrome | Alliance | Yunis-Varon syndrome | 216340 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Polyphosphoinositide phosphatase Fig4-like | SAC domain |
|---|---|---|---|
|
UniProtKB:A0A8M9PTK2
|
900 | ||
|
UniProtKB:A0A8M9PI17
|
901 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance