FIG4

Chr 6

FIG4 phosphoinositide 5-phosphatase

Also known as: ALS11, BOP, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1

NCBI Gene: 9896ENSG00000112367UniProt: Q92562

The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCharcot-Marie-Tooth disease, demyelinating, type 4J
UniProtAmyotrophic lateral sclerosis 11
UniProtYunis-Varon syndrome
UniProtPolymicrogyria, bilateral temporooccipital

Clinical highlights

Gene-disease validity (ClinGen)
amyotrophic lateral sclerosis type 11 · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
26
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FIG4
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.10
OE 0.98 (0.79–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.88Z-score
OE missense 0.76 (0.70–0.83)
381 obs / 498.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.98 (0.79–1.24)
0≤0.351.4
Missense OE?0.76 (0.70–0.83)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 52 / 52.8Missense obs/exp: 381 / 498.9Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FIG4 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients