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Fig4 Gene Detail
Summary
  • Symbol
    Fig4
  • Name
    FIG4 phosphoinositide 5-phosphatase
  • Synonyms
    A530089I17Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2143585
    NCBI Gene: 103199
  • Gene Overview
    MyGene.info: FIG4
Location & Maps
more
  • Sequence Map
    Chr10:41188172-41303241 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      115070 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FIG4, FIG4 phosphoinositide 5-phosphatase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FIG4, FIG4 phosphoinositide 5-phosphatase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALS11, BTOP, CMT4J, dJ249I4.1, KIAA0274, SAC3, YVS
  • Links
    NCBI Gene ID: 9896
    neXtProt AC: NX_Q92562

  • Chr Location
    6q21; chr6:109691221-109825431 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 6713
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: FIG4
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Fig4 mouse models; 4 with human FIG4 associations

Human Disease Mouse Models
       Charcot-Marie-Tooth Disease, Type 4j; CMT4J   OMIM: 611228 View 2 models
Yunis-Varon Syndrome; YVS   OMIM: 216340 View 1 model
       Amyotrophic Lateral Sclerosis 11; ALS11   OMIM: 612577
Polymicrogyria, Bilateral Temporooccipital; BTOP   OMIM: 612691
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    55 phenotypes from 6 alleles in 5 genetic backgrounds
    1 images
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    22
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    3
  • Transgenic
    4
  • Genomic Mutations
    2 involving Fig4
  • Incidental Mutations
Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 103199 NCBI Gene Model | MGI Sequence Detail 115070 C57BL/6J ±  kb
transcript NM_133999 RefSeq | MGI Sequence Detail 3278 FVB/N  
polypeptide Q91WF7 UniProt | EBI | MGI Sequence Detail 907 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    507 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 55
    cDNA 55

    Microarray probesets 3
References
more
  • Summaries
    All 45
    Developmental Gene Expression 1
    Diseases 4
    Gene Ontology 7
    Phenotypes 25
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:229161 Lenk GM, et al., Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene. Hum Mol Genet. 2016 Jan 15;25(2):340-7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory