Gene: FIG4

Alternate names for this Gene: ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q21

Description of this Gene: FIG4 phosphoinositide 5-phosphatase

Type of Gene: protein-coding

rs121908287 in FIG4 gene and AMYOTROPHIC LATERAL SCLEROSIS 11 PMID 28051077 2017 FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

PMID 19118816 2009 Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

rs121908287 in FIG4 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J PMID 24878229 2014 Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 23489662 2013 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

PMID 21655088 2011 Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 18556664 2008 Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

PMID 20630877 2010 We further demonstrate that mutant Sac3, harboring the pathogenic Ile-to-Thr substitution at position 41 found in patients with CMT4J disorder, is similar to Sac3(WT) with regard to PtdIns(3,5)P(2)-hydrolyzing activity, association with ArPIKfyve, or rapid proteasome-dependent clearance.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

rs121908287 in FIG4 gene and Charcot-Marie-Tooth disease type 4 PMID 24878229 2014 Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 23489662 2013 Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 18556664 2008 Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 28251916 2017 Genetic heterogeneity of motor neuropathies.

PMID 24088667 2013 Novel FIG4 mutations in Yunis-Varon syndrome.

rs12192279 in FIG4 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs4947015 in FIG4 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs377357931 in FIG4 gene and Muscle hypotonia PMID 17572665 2007 Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

PMID 24598713 2014 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

PMID 25617005 2015 Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

PMID 21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

PMID 8411078 1993 Congenital heart malformation in Yunis-Varón syndrome.

PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

PMID 19118816 2009 Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

rs587777716 in FIG4 gene and POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL PMID 24598713 2014 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

rs4473902 in FIG4 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6568600 in FIG4 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4473902 in FIG4 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs143130997 in FIG4 gene and Serum iron measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs143130997 in FIG4 gene and Transferrin saturation measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs397509395 in FIG4 gene and Yunis Varon syndrome PMID 23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.