Property Summary

NCBI Gene PubMed Count 32
PubMed Score 224.07
PubTator Score 34.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma -1.400 0.000
osteosarcoma -1.900 0.000
glioblastoma -1.400 0.000
medulloblastoma, large-cell -1.600 0.000
tuberculosis 2.100 0.000
non-small cell lung cancer -1.230 0.000
pediatric high grade glioma -1.200 0.000
ovarian cancer 1.100 0.001

Synonym

Accession Q92562 Q53H49 Q5TCS6
Symbols YVS
BTOP
SAC3
ALS11
CMT4J
KIAA0274
dJ249I4.1

Gene

PANTHER Protein Class (2)

  Ortholog (13)

 GWAS Trait (1)

Gene RIF (17)

PMID Text
26519381 These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner.
26405034 data identify a novel role of the ArPIKfyve-Sac3 complex in the mechanisms controlling aggregate formation of Sph1 and suggest that Sac3 protein deficiency or overproduction may facilitate aggregation of aggregation-prone proteins
24598713 Phenotypes associated with FIG4 mutations include cortical malformation associated with seizures and psychiatric manifestations, in addition to the Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome.
24088667 Identified novel biallelic FIG4 mutations.
24085347 FIG4 mutations were identified in autosomal-dominant Amyotrophic lateral sclerosis.
24070605 results uncover an unexpected role for Sac3 phosphatase in triple-negative breast cancer cell proliferation
23888880 The findings suggest that FIG4 may have a common role in the formation or degradation of neuronal cytoplasmic and nuclear inclusions in several neurodegenerative diseases.
23623387 Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
23336365 Genetic variations in the FIG4 gene were not found to cause ALS in Italian patients.
21705420 This study demonistrated that CMT4J is a clinically distinct form of Charcot-Marie-Tooth disease with mutations in the PI(3,5)P phosphatase FIG4.
More...

AA Sequence

MPTAAAPIISSVQKLVLYETRARYFLVGSNNAETKYRVLKIDRTEPKDLVIIDDRHVYTQQEVRELLGRL      1 - 70
DLGNRTKMGQKGSSGLFRAVSAFGVVGFVRFLEGYYIVLITKRRKMADIGGHAIYKVEDTNMIYIPNDSV     71 - 140
RVTHPDEARYLRIFQNVDLSSNFYFSYSYDLSHSLQYNLTVLRMPLEMLKSEMTQNRQESFDIFEDEGLI    141 - 210
TQGGSGVFGICSEPYMKYVWNGELLDIIKSTVHRDWLLYIIHGFCGQSKLLIYGRPVYVTLIARRSSKFA    211 - 280
GTRFLKRGANCEGDVANEVETEQILCDASVMSFTAGSYSSYVQVRGSVPLYWSQDISTMMPKPPITLDQA    281 - 350
DPFAHVAALHFDQMFQRFGSPIIILNLVKEREKRKHERILSEELVAAVTYLNQFLPPEHTIVYIPWDMAK    351 - 420
YTKSKLCNVLDRLNVIAESVVKKTGFFVNRPDSYCSILRPDEKWNELGGCVIPTGRLQTGILRTNCVDCL    421 - 490
DRTNTAQFMVGKCALAYQLYSLGLIDKPNLQFDTDAVRLFEELYEDHGDTLSLQYGGSQLVHRVKTYRKI    491 - 560
APWTQHSKDIMQTLSRYYSNAFSDADRQDSINLFLGVFHPTEGKPHLWELPTDFYLHHKNTMRLLPTRRS    561 - 630
YTYWWTPEVIKHLPLPYDEVICAVNLKKLIVKKFHKYEEEIDIHNEFFRPYELSSFDDTFCLAMTSSARD    631 - 700
FMPKTVGIDPSPFTVRKPDETGKSVLGNKSNREEAVLQRKTAASAPPPPSEEAVSSSSEDDSGTDREEEG    701 - 770
SVSQRSTPVKMTDAGDSAKVTENVVQPMKELYGINLSDGLSEEDFSIYSRFVQLGQSQHKQDKNSQQPCS    771 - 840
RCSDGVIKLTPISAFSQDNIYEVQPPRVDRKSTEIFQAHIQASQGIMQPLGKEDSSMYREYIRNRYL       841 - 907
//

Text Mined References (29)

PMID Year Title
26519381 2016 FIG4 is a hepatitis C virus particle-bound protein implicated in virion morphogenesis and infectivity with cholesteryl ester modulation potential.
26405034 2015 The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.
24598713 2014 Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
24088667 2013 Novel FIG4 mutations in Yunis-Varon syndrome.
24085347 2013 Amyotrophic lateral sclerosis: an update on recent genetic insights.
24070605 2013 The PIKfyve-ArPIKfyve-Sac3 triad in human breast cancer: Functional link between elevated Sac3 phosphatase and enhanced proliferation of triple negative cell lines.
23888880 2014 ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases.
23623387 2013 Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
23336365 2013 The FIG4 gene does not play a major role in causing ALS in Italian patients.
21705420 2011 Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P? phosphatase FIG4.
More...