Property Summary

NCBI Gene PubMed Count 32
Grant Count 48
R01 Count 42
Funding $5,552,535.31
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

 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.
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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.
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