FIG4 Gene (Protein Coding)

FIG4 Phosphoinositide 5-Phosphatase

GC06P109691
GIFtS:
43
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 s... See more...

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
  • Polyphosphoinositide 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 52
  • EC 3.1.3.- 4
  • DJ249I4.1 3
  • EC 3.1.3 52
  • 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 Polymicrogyria, Bilateral Temporooccipital and Yunis-Varon Syndrome. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-3-phosphatase activity and phosphatidylinositol bisphosphate phosphatase activity. An important paralog of this gene is SACM1L.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FIG4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FIG4 Gene

Genomics for FIG4 Gene

GeneHancer (GH) Regulatory Elements for FIG4 Gene

Promoters and enhancers for FIG4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FIG4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FIG4

Top Transcription factor binding sites by QIAGEN in the FIG4 gene promoter:
  • c-Myb
  • CBF(2)
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Meis-1b
  • NF-Y
  • Sp1

Genomic Locations for FIG4 Gene

Genomic Locations for FIG4 Gene
chr6:109,691,221-109,825,431
(GRCh38/hg38)
Size:
134,211 bases
Orientation:
Plus strand
chr6:110,012,424-110,146,634
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for FIG4 Gene

Proteins for FIG4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for FIG4 Gene

Protein Expression for FIG4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FIG4 Gene

Q92562:
  • DCLDRTN
  • TLIARRS

Post-translational modifications for FIG4 Gene

  • Ubiquitination at Lys379
  • Modification sites at PhosphoSitePlus

Other Protein References for FIG4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FIG4 Gene

Gene Families for FIG4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FIG4 Gene

Blocks:
  • Synaptojanin, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FIG4 Gene

GenScript: Design optimal peptide antigens:
  • SAC domain-containing protein 3 (FIG4_HUMAN)
  • FIG4 homolog (S. cerevisiae) (Q5JRV6_HUMAN)
genes like me logo Genes that share domains with FIG4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FIG4 Gene

Function for FIG4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

Phenotypes From GWAS Catalog for FIG4 Gene

Gene Ontology (GO) - Molecular Function for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IEA --
GO:0005515 protein binding IPI 17556371
GO:0016787 hydrolase activity IEA --
GO:0034593 phosphatidylinositol bisphosphate phosphatase activity IEA --
GO:0042578 phosphoric ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with FIG4: view
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

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FIG4 gene
Compartment Confidence
endosome 5
golgi apparatus 4
nucleus 3
endoplasmic reticulum 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Lipid droplets (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005811 lipid droplet IDA --
genes like me logo Genes that share ontologies with FIG4: view

Pathways & Interactions for FIG4 Gene

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

SIGNOR curated interactions for FIG4 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for FIG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007033 vacuole organization IEA --
GO:0007626 locomotory behavior IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with FIG4: view

Drugs & Compounds for FIG4 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FIG4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FIG4 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FIG4 Gene

GeneLoc Exon Structure for
FIG4

Expression for FIG4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FIG4 Gene

mRNA expression in normal human tissues for FIG4 Gene
mRNA expression by BioGPS for FIG4 GenemRNA expression by GTEx 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, MaxQB, and MOPED for FIG4 Gene



Protein tissue co-expression partners for FIG4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FIG4

SOURCE GeneReport for Unigene cluster for FIG4 Gene:

Hs.529959

Evidence on tissue expression from TISSUES for FIG4 Gene

  • Nervous system(4.9)
  • Intestine(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FIG4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • trachea
Abdomen:
  • biliary tract
  • kidney
  • liver
  • spleen
  • stomach
Pelvis:
  • pelvis
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with FIG4: view

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 31 30
  • 99.78 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FIG4 31 30
  • 93.46 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia FIG4 31
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia FIG4 31 30
  • 91.47 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Fig4 17 31 30
  • 87.17 (n)
rat
(Rattus norvegicus)
 Mammalia Fig4 30
  • 85.04 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia FIG4 31
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FIG4 31 30
  • 79.66 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FIG4 31
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fig4 30
  • 74.75 (n)
zebrafish
(Danio rerio)
 Actinopterygii FIG4 (2 of 2) 31
  • 74 (a)
 OneToMany
FIG4 (1 of 2) 31
  • 74 (a)
 OneToMany
fig4 30
  • 67.95 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004477 30
  • 52.03 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG17840 31 30
  • 50.51 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea C34B7.2 31
  • 34 (a)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FIG4 33 31 30
  • 52.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E02113g 30
  • 51.6 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ADL195C 30
  • 51.58 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 55 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU08689 30
  • 51.34 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC1093.03 30
  • 51.2 (n)
Species where no ortholog for FIG4 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FIG4: view image

Paralogs for FIG4 Gene

Paralogs for FIG4 Gene

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

Variants for FIG4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FIG4 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
566471 Uncertain Significance: Charcot-Marie-Tooth disease type 4 109,735,242(+) G/T MISSENSE_VARIANT
566478 Uncertain Significance: Charcot-Marie-Tooth disease type 4 109,786,395(+) A/G MISSENSE_VARIANT
566878 Uncertain Significance: Charcot-Marie-Tooth disease type 4 109,777,048(+) C/T MISSENSE_VARIANT
567329 Uncertain Significance: Charcot-Marie-Tooth disease type 4 109,786,389(+) G/A MISSENSE_VARIANT
573057 Uncertain Significance: Charcot-Marie-Tooth disease type 4 109,715,121(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FIG4 Gene

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

Variant ID Type Subtype PubMed ID
esv3306678 CNV mobile element insertion 20981092
esv3308396 CNV mobile element insertion 20981092
esv3419021 CNV insertion 20981092
esv3435539 CNV duplication 20981092
esv3436310 CNV insertion 20981092
esv3438966 CNV insertion 20981092
nsv1019690 CNV gain 25217958
nsv5436 CNV deletion 18451855
nsv5437 CNV insertion 18451855
nsv604485 CNV loss 21841781
nsv830769 CNV gain 17160897

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)

Additional Variant Information for FIG4 Gene

Human Gene Mutation Database (HGMD)
FIG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FIG4

SNP Genotyping and Copy Number Assay Products

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

Disorders for FIG4 Gene

MalaCards: The human disease database

(35) MalaCards diseases for FIG4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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:21655088, 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.

Additional Disease Information for FIG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CY … Meisler MH (Nature 2007) 2 3 4 54
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 54
  3. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. (PMID: 24598713) Baulac S … Leguern E (Neurology 2014) 3 4 54
  4. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. (PMID: 23623387) Campeau PM … Lee BH (American journal of human genetics 2013) 3 4 54
  5. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. (PMID: 21705420) Nicholson G … Meisler MH (Brain : a journal of neurology 2011) 3 4 54

ExternalLinks

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