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
External Ids for FIG4 Gene
- HGNC: 16873
- Entrez Gene: 9896
- Ensembl: ENSG00000112367
- OMIM: 609390
- UniProtKB: Q92562
Previous HGNC Symbols for FIG4 Gene
- KIAA0274
Previous GeneCards Identifiers for FIG4 Gene
- GC06P110120
- GC06P110012
- GC06P107578
Summaries 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 Metabolism and superpathway of inositol phosphate compounds. Gene Ontology (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.
Additional gene information for FIG4 Gene
- Monarch Initiative
- Search for FIG4 at DataMed
- Search for FIG4 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
- Top Transcription factor binding sites by QIAGEN in the FIG4 gene promoter:
-
- Meis-1a
- Meis-1
- HOXA9B
- HOXA9
- NF-Y
- CBF(2)
- c-Myb
- Sp1
- Meis-1b
Regulatory Element Products
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:
-
- 6q21 by Entrez Gene
- 6q21 by HGNC
- 6q21 by Ensembl
FIG4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for FIG4 Gene
Post-translational modifications for FIG4 Gene
Other Protein References for FIG4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FIG4
- Novus Biologicals Antibodies for FIG4
-
Abcam antibodies for FIG4
- Invitrogen Antibodies for FIG4 (AFLGC-FIG4)
- GeneTex FIG4 Antibody for FIG4
-
Boster Bio Antibodies for FIG4
Protein Products
-
OriGene Purified Proteins for FIG4
- Search Origene for MassSpec and Protein Over-expression Lysates for FIG4
- Origene Custom Protein Services for FIG4
- Search GeneTex for Proteins for FIG4
-
Abcam proteins for FIG4
Assay Products
- antibodies-online: Search results for available FIG4 related products ranked by validation data
No data available for DME Specific Peptides for FIG4 Gene
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:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FIG4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FIG4 Gene
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
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for FIG4 Gene
- MGI mutant phenotypes for FIG4:
-
inferred from 2 alleles
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- mortality/aging
- muscle phenotype
- craniofacial phenotype
- skeleton phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for FIG4:
Animal Model Products
-
Taconic Biosciences Mouse Models for FIG4
- Cyagen custom Knockout/knockin (KOKI) mouse models for FIG4
-
CRISPR Products
-
OriGene CRISPR knockouts for FIG4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FIG4
- genomics-online: gRNA clones - Search results for 96 available FIG4 gene related products
- Overview of 96 available FIG4 gene related products
- Applied Biological Materials CRISPR for FIG4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FIG4
- GenScript: Design CRISPR guide RNA sequences for FIG4
miRNA for FIG4 Gene
- miRTarBase miRNAs that target FIG4
-
- hsa-mir-335-5p (MIRT019027)
- hsa-mir-1-3p (MIRT024087)
- hsa-mir-26b-5p (MIRT030214)
- hsa-mir-5089-5p (MIRT519305)
- hsa-mir-7151-3p (MIRT519306)
- hsa-mir-6807-5p (MIRT519307)
- hsa-mir-5095 (MIRT519308)
- hsa-mir-4252 (MIRT519309)
- hsa-mir-6889-3p (MIRT519310)
- hsa-mir-6506-5p (MIRT519311)
- hsa-mir-619-5p (MIRT519312)
- hsa-mir-6849-3p (MIRT519313)
- hsa-mir-6504-3p (MIRT519314)
- hsa-mir-4438 (MIRT519315)
- hsa-mir-6876-5p (MIRT552226)
- hsa-mir-4476 (MIRT552227)
- hsa-mir-3941 (MIRT607142)
- hsa-mir-4789-3p (MIRT607143)
- hsa-mir-603 (MIRT607144)
- hsa-mir-362-3p (MIRT607145)
- hsa-mir-329-3p (MIRT607146)
- hsa-mir-8485 (MIRT607147)
- hsa-mir-377-3p (MIRT608492)
- hsa-mir-6884-3p (MIRT608493)
- hsa-mir-744-3p (MIRT627007)
- hsa-mir-106a-3p (MIRT627008)
- hsa-mir-4423-5p (MIRT627009)
- hsa-mir-6501-5p (MIRT627010)
- hsa-mir-4430 (MIRT627011)
- hsa-mir-3652 (MIRT627012)
- hsa-mir-122-5p (MIRT627013)
- hsa-mir-504-3p (MIRT627014)
- hsa-mir-3135b (MIRT627015)
- hsa-mir-454-3p (MIRT627016)
- hsa-mir-4295 (MIRT627017)
- hsa-mir-3666 (MIRT627018)
- hsa-mir-301b-3p (MIRT627019)
- hsa-mir-301a-3p (MIRT627020)
- hsa-mir-130b-3p (MIRT627021)
- hsa-mir-130a-3p (MIRT627022)
- hsa-mir-498 (MIRT638022)
- hsa-mir-4279 (MIRT638023)
- hsa-mir-6778-3p (MIRT638024)
- hsa-mir-1976 (MIRT638025)
- hsa-mir-3653-5p (MIRT638026)
- hsa-mir-325 (MIRT638027)
- hsa-mir-6747-3p (MIRT638028)
- hsa-mir-6727-3p (MIRT638029)
- hsa-mir-4722-3p (MIRT638030)
- hsa-mir-6809-3p (MIRT715157)
- hsa-mir-6833-3p (MIRT715158)
- hsa-mir-4768-5p (MIRT715159)
- hsa-mir-6873-3p (MIRT715160)
- hsa-mir-4778-3p (MIRT715161)
- hsa-mir-6787-3p (MIRT715162)
- hsa-mir-1284 (MIRT715163)
- hsa-mir-545-3p (MIRT715164)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FIG4
- Browse OriGene Inhibitory RNA Products For FIG4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FIG4
- genomics-online: shRNA clones - Search results for 96 available FIG4 gene related products
- Overview of 96 available FIG4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for FIG4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FIG4
- Applied Biological Materials Clones for FIG4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FIG4
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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| endosome | 5 |
| endoplasmic reticulum | 3 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
- Vesicles (3)
- Lipid droplets (1)
| 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 | -- |
Pathways & Interactions for FIG4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | PI Metabolism |
.63
|
|
| 2 | Metabolism |
.37
|
|
| 3 | superpathway of inositol phosphate compounds | ||
| 4 | Glycerophospholipid biosynthesis | ||
Pathways by source for FIG4 Gene
2 BioSystems pathways for FIG4 Gene
7 Reactome pathways for FIG4 Gene
Interacting Proteins for FIG4 Gene
Selected Interacting proteins:
Q92562-FIG4_HUMAN
ENSP00000230124
for FIG4 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FIG4
| 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 | -- |
No data available for SIGNOR curated interactions for FIG4 Gene
Transcripts for FIG4 Gene
mRNA/cDNA for FIG4 Gene
- (5) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (161) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000230124 3011 bps (uc003ptt.3)
- ENST00000454215 712 bps (uc063qom.1)
- ENST00000368941 791 bps (uc063qon.1)
- ENST00000415980 439 bps (uc063qoo.1)
- ENST00000419951 724 bps (uc063qop.1)
Unigene Clusters for FIG4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FIG4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FIG4
- genomics-online: gRNA clones - Search results for 96 available FIG4 gene related products
- Overview of 96 available FIG4 gene related products
- Applied Biological Materials CRISPR for FIG4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FIG4
- GenScript: Design CRISPR guide RNA sequences for FIG4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FIG4
- Browse OriGene Inhibitory RNA Products For FIG4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FIG4
- genomics-online: shRNA clones - Search results for 96 available FIG4 gene related products
- Overview of 96 available FIG4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for FIG4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FIG4
- Applied Biological Materials Clones for FIG4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for FIG4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
- Nucleus Pulposus
- Primitive Streak (Early Embryonic Tissues)
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
NURSA nuclear receptor signaling pathways regulating expression of FIG4 Gene:
FIG4SOURCE GeneReport for Unigene cluster for FIG4 Gene:
Hs.529959Evidence 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
Primer Products
-
OriGene qPCR primer pairs for FIG4
-
OriGene qPCR primer pairs and template standards for FIG4
- genomics-online: primer clones - Search results for 96 available FIG4 gene related products
- Overview of 96 available FIG4 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FIG4 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FIG4 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FIG4 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | FIG4 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Fig4 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fig4 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FIG4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FIG4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | FIG4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fig4 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | FIG4 (2 of 2) 34 |
|
OneToMany | |
| FIG4 (1 of 2) 34 |
|
OneToMany | |||
| fig4 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004477 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG17840 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | C34B7.2 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FIG4 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E02113g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ADL195C 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU08689 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC1093.03 33 |
|
- 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
No data available for Paralogs for FIG4 Gene
Variants for FIG4 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10499054 | benign, not specified, Charcot-Marie-Tooth, Type 4, Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease, type 4J | 109,785,031(+) | A/G/T | intron_variant | |
| rs1057519386 | uncertain-significance, Amyotrophic lateral sclerosis type 11 | 109,766,764(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1060501400 | uncertain-significance, Charcot-Marie-Tooth disease, type IV | 109,743,207(+) | G/C | coding_sequence_variant, missense_variant | |
| rs1060501401 | uncertain-significance, Charcot-Marie-Tooth disease, type IV | 109,796,856(+) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1060501402 | uncertain-significance, Charcot-Marie-Tooth disease, type IV | 109,776,923(+) | T/A | coding_sequence_variant, missense_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FIG4 Gene
Disorders for FIG4 Gene
(13) MalaCards diseases for FIG4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| polymicrogyria, bilateral temporooccipital |
|
|
| yunis-varon syndrome |
|
|
| charcot-marie-tooth disease, type 4j |
|
|
| amyotrophic lateral sclerosis 11 |
|
|
| neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive |
|
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
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- (GAD)
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- (HuGE)
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No data available for Genatlas for FIG4 Gene
Publications for FIG4 Gene
- 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 58
- 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 58
- Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. (PMID: 24598713) Baulac S … Leguern E (Neurology 2014) 3 4 58
- 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 58
- 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 58
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