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
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Bao et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
cq35Allele with one point mutationExon 5UnknownENU
sa10829Allele with one point mutationUnknownSplice SiteENU
sa15712Allele with one point mutationUnknownPremature StopENU
sa23824Allele with one point mutationUnknownPremature StopENU
sa29476Allele with one point mutationUnknownUnknownENU
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Sequence Targeting Reagents
Human Disease
Associated With fig4a Human Ortholog
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
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Associated With fig4a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002013 SAC domain
Family IPR043573 Polyphosphoinositide phosphatase Fig4-like
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Domain Details Per Protein
Protein Length Polyphosphoinositide phosphatase Fig4-like SAC domain
UniProtKB:A0A8M9PTK2 900
UniProtKB:A0A8M9PI17 901
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Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Citations