FIG4

Chr 6q21

FIG4 phosphoinositide 5-phosphatase

Aliases:: SAC3, hSac3, dJ249I4.1, ALS11, CMT4J
MANE:: ENST00000230124.8

OMIM: 609390 ↗NCBI: 9896 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FIG4 · Q92562

v62025-08-01

Predicted Aligned Error matrix for FIG4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.9/ 100

Confident

907 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)28%
Low(50–70)10%
Very low(< 50)13%

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AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amyotrophic lateral sclerosis/motor neuron disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Radial dysplasia
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Yunis-Varon syndrome
0.82
Charcot-Marie-Tooth disease type 4J
0.82
amyotrophic lateral sclerosis type 11
0.75
bilateral parasagittal parieto-occipital polymicrogyria
0.72
amyotrophic lateral sclerosis
0.68
Charcot-Marie-Tooth disease
0.61
Charcot-Marie-Tooth disease type 4
0.56
hereditary disease
0.55
Joubert syndrome and related disorders
0.52
Leukoencephalopathy
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polyphosphoinositide phosphatase

Dual specificity phosphatase component of the PI(3,5)P2 regulatory complex which regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:17556371, PubMed:33098764). Catalyzes the dephosphorylation of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) to form phosphatidylinositol 3-phosphate (PubMed:33098764). Has serine-protein phosphatase activity acting on PIKfyve to stimulate its lipid kinase activity, its catalytically activity being required for maximal PI(3,5)P2 production (PubMed:33098764). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide and although displaying preferences for PtdIns(3,5)P2, it is capable of hydrolyzing PtdIns(3,4,5)P3 and PtdIns(4,5)P2, at least in vitro (PubMed:17556371)

Curated MONDO disease pages that list FIG4 among their top associated genes.

Charcot-Marie-Tooth diseaseRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with FIG4