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Aliases for FIG4 Gene

Aliases for FIG4 Gene

  • FIG4 Phosphoinositide 5-Phosphatase 2 3 5
  • KIAA0274 2 3 4
  • Phosphatidylinositol 3,5-Bisphosphate 5-Phosphatase 3 4
  • SAC Domain-Containing Protein 3 3 4
  • SAC3 3 4
  • FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing (S. Cerevisiae) 2
  • FIG4 Homolog, SAC1 Domain Containing Lipid Phosphatase 3
  • FIG4 Homolog, SAC1 Lipid Phosphatase Domain Containing 3
  • FIG4 Homolog, SAC Domain Containing Lipid Phosphatase 3
  • Sac Domain-Containing Inositol Phosphatase 3 3
  • FIG4 Homolog (S. Cerevisiae) 2
  • EC 3.1.3.36 63
  • EC 3.1.3.- 4
  • DJ249I4.1 3
  • EC 3.1.3 63
  • ALS11 3
  • CMT4J 3
  • BTOP 3
  • YVS 3

External Ids for FIG4 Gene

Previous HGNC Symbols for FIG4 Gene

  • KIAA0274

Previous GeneCards Identifiers for FIG4 Gene

  • GC06P110120
  • GC06P110012
  • GC06P107578

Summaries for FIG4 Gene

Entrez Gene Summary for FIG4 Gene

  • 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]

GeneCards Summary for FIG4 Gene

FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include charcot-marie-tooth disease, type 4j and amyotrophic lateral sclerosis 11. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include phosphatidylinositol-3-phosphatase activity and phosphatidylinositol bisphosphate phosphatase activity.

UniProtKB/Swiss-Prot for FIG4 Gene

  • The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Gene Wiki entry for FIG4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FIG4 Gene

Genomics for FIG4 Gene

Regulatory Elements for FIG4 Gene

Promoters for FIG4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FIG4 on UCSC Golden Path with GeneCards custom track

Genomic Location for FIG4 Gene

Chromosome:
6
Start:
109,691,221 bp from pter
End:
109,825,431 bp from pter
Size:
134,211 bases
Orientation:
Plus strand

Genomic View for FIG4 Gene

Genes around FIG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FIG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FIG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FIG4 Gene

Proteins for FIG4 Gene

  • Protein details for FIG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92562-FIG4_HUMAN
    Recommended name:
    Polyphosphoinositide phosphatase
    Protein Accession:
    Q92562
    Secondary Accessions:
    • Q53H49
    • Q5TCS6

    Protein attributes for FIG4 Gene

    Size:
    907 amino acids
    Molecular mass:
    103635 Da
    Quaternary structure:
    • Component of the PI(3,5)P2 regulatory complex/PAS complex, at least composed of PIKFYVE, FIG4 and VAC14. VAC14 nucleates the assembly of the complex and serves as a scaffold.
    SequenceCaution:
    • Sequence=BAA13403.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for FIG4 Gene

Proteomics data for FIG4 Gene at MOPED

Selected DME Specific Peptides for FIG4 Gene

Post-translational modifications for FIG4 Gene

  • Ubiquitination at Lys 379
  • Modification sites at PhosphoSitePlus

Other Protein References for FIG4 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FIG4

Domains & Families for FIG4 Gene

Gene Families for FIG4 Gene

Protein Domains for FIG4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FIG4 Gene

Graphical View of Domain Structure for InterPro Entry

Q92562

UniProtKB/Swiss-Prot:

FIG4_HUMAN :
  • Contains 1 SAC domain.
Domain:
  • Contains 1 SAC domain.
genes like me logo Genes that share domains with FIG4: view

Function for FIG4 Gene

Molecular function for FIG4 Gene

UniProtKB/Swiss-Prot Function:
The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.

Enzyme Numbers (IUBMB) for FIG4 Gene

genes like me logo Genes that share phenotypes with FIG4: view

Human Phenotype Ontology for FIG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FIG4

CRISPR Products

miRNA for FIG4 Gene

miRTarBase miRNAs that target FIG4

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for FIG4 Gene

Localization for FIG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FIG4 Gene

Endosome membrane. Note=Localization requires VAC14 and PIKFYVE.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FIG4 Gene COMPARTMENTS Subcellular localization image for FIG4 gene
Compartment Confidence
endosome 5
golgi apparatus 5
endoplasmic reticulum 3
cytosol 2
lysosome 2
nucleus 2
vacuole 2
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for FIG4 Gene

Pathways & Interactions for FIG4 Gene

genes like me logo Genes that share pathways with FIG4: view

Gene Ontology (GO) - Biological Process for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006644 phospholipid metabolic process TAS --
GO:0007033 vacuole organization IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0016311 dephosphorylation IEA --
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process TAS --
genes like me logo Genes that share ontologies with FIG4: view

No data available for SIGNOR curated interactions for FIG4 Gene

Drugs & Compounds for FIG4 Gene

No Compound Related Data Available

Transcripts for FIG4 Gene

Unigene Clusters for FIG4 Gene

FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FIG4 Gene

No ASD Table

Relevant External Links for FIG4 Gene

GeneLoc Exon Structure for
FIG4
ECgene alternative splicing isoforms for
FIG4

Expression for FIG4 Gene

mRNA expression in normal human tissues for FIG4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FIG4 Gene

This gene is overexpressed in Pancreatic juice (15.7), Bone (15.3), and Platelet (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FIG4 Gene



SOURCE GeneReport for Unigene cluster for FIG4 Gene Hs.529959

genes like me logo Genes that share expression patterns with FIG4: view

Protein tissue co-expression partners for FIG4 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FIG4 Gene

Orthologs for FIG4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FIG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FIG4 36
  • 91 (a)
OneToOne
FIG4 35
  • 99.78 (n)
  • 99.78 (a)
cow
(Bos Taurus)
Mammalia FIG4 36
  • 97 (a)
OneToOne
FIG4 35
  • 91.47 (n)
  • 96.91 (a)
dog
(Canis familiaris)
Mammalia FIG4 35
  • 93.46 (n)
  • 98.02 (a)
FIG4 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fig4 16
Fig4 36
  • 95 (a)
OneToOne
Fig4 35
  • 87.17 (n)
  • 95.15 (a)
oppossum
(Monodelphis domestica)
Mammalia FIG4 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FIG4 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fig4 35
  • 85.04 (n)
  • 93.94 (a)
chicken
(Gallus gallus)
Aves FIG4 36
  • 89 (a)
OneToOne
FIG4 35
  • 79.66 (n)
  • 89.25 (a)
lizard
(Anolis carolinensis)
Reptilia FIG4 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fig4 35
  • 74.75 (n)
  • 81.64 (a)
zebrafish
(Danio rerio)
Actinopterygii FIG4 (1 of 2) 36
  • 74 (a)
OneToMany
FIG4 (2 of 2) 36
  • 74 (a)
OneToMany
fig4 35
  • 67.95 (n)
  • 74.32 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004477 35
  • 52.03 (n)
  • 48.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17840 36
  • 42 (a)
OneToOne
CG17840 35
  • 50.51 (n)
  • 46.96 (a)
worm
(Caenorhabditis elegans)
Secernentea C34B7.2 36
  • 34 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL195C 35
  • 51.58 (n)
  • 45.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FIG4 35
  • 52.63 (n)
  • 45.14 (a)
FIG4 36
  • 35 (a)
OneToOne
FIG4 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02113g 35
  • 51.6 (n)
  • 42.42 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08689 35
  • 51.34 (n)
  • 47.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1093.03 35
  • 51.2 (n)
  • 45.25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for FIG4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FIG4 Gene

ENSEMBL:
Gene Tree for FIG4 (if available)
TreeFam:
Gene Tree for FIG4 (if available)

Paralogs for FIG4 Gene

No data available for Paralogs for FIG4 Gene

Variants for FIG4 Gene

Sequence variations from dbSNP and Humsavar for FIG4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2295837 - 109,743,725(+) ACCAG(A/T)TGTTC reference, missense
rs9885672 - 109,786,314(+) TGCTG(C/T)GAACT reference, missense
rs121908287 Charcot-Marie-Tooth disease 4J (CMT4J) 109,715,133(+) GAAGA(C/T)TGATA reference, missense
VAR_054831 -
VAR_054832 Amyotrophic lateral sclerosis 11 (ALS11)

Structural Variations from Database of Genomic Variants (DGV) for FIG4 Gene

Variant ID Type Subtype PubMed ID
nsv830769 CNV Gain 17160897
nsv5436 CNV Loss 18451855
nsv886533 CNV Loss 21882294
esv272669 CNV Insertion 20981092
esv270954 CNV Insertion 20981092
nsv5437 CNV Insertion 18451855

Variation tolerance for FIG4 Gene

Residual Variation Intolerance Score: 5.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.35; 88.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FIG4 Gene

HapMap Linkage Disequilibrium report
FIG4
Human Gene Mutation Database (HGMD)
FIG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FIG4 Gene

Disorders for FIG4 Gene

MalaCards: The human disease database

(23) MalaCards diseases for FIG4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4j
  • cmt4j
amyotrophic lateral sclerosis 11
  • amyotrophic lateral sclerosis type 11
polymicrogyria, bilateral temporooccipital
  • btop
yunis-varon syndrome
  • cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
charcot-marie-tooth neuropathy type 4j
  • charcot-marie-tooth disease type 4j
- elite association - COSMIC cancer census association via MalaCards
Search FIG4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FIG4_HUMAN
  • Charcot-Marie-Tooth disease 4J (CMT4J) [MIM:611228]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:17572665, ECO:0000269 PubMed:21705420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 11 (ALS11) [MIM:612577]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:19118816}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Yunis-Varon syndrome (YVS) [MIM:216340]: A severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy. {ECO:0000269 PubMed:23623387}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polymicrogyria, bilateral temporooccipital (BTOP) [MIM:612691]: A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy. {ECO:0000269 PubMed:24598713}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FIG4

Genetic Association Database (GAD)
FIG4
Human Genome Epidemiology (HuGE) Navigator
FIG4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FIG4
genes like me logo Genes that share disorders with FIG4: view

No data available for Genatlas for FIG4 Gene

Publications for FIG4 Gene

  1. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. (PMID: 17572665) Chow C.Y. … Meisler M.H. (Nature 2007) 2 3 4 67
  2. Identification and characterization of a sac domain-containing phosphoinositide 5-phosphatase. (PMID: 11274189) Minagawa T. … Takenawa T. (J. Biol. Chem. 2001) 2 3
  3. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PMID: 9039502) Nagase T. … Nomura N. (DNA Res. 1996) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. (PMID: 24598713) Baulac S. … Leguern E. (Neurology 2014) 3

Products for FIG4 Gene

Sources for FIG4 Gene

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