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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
  • Alliance
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
  • Genetic Map
    Chromosome 10, 22.08 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FIG4, FIG4 phosphoinositide 5-phosphatase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FIG4, FIG4 phosphoinositide 5-phosphatase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ALS11, BTOP, CMT4J, dJ249I4.1, KIAA0274, SAC3, YVS
  • Links
    NCBI Gene ID: 9896
    neXtProt AC: NX_Q92562
    UniProt: Q92562

  • Chr Location
    6q21; chr6:109691216-109825431 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 6713
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FIG4
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Fig4 mouse models; 3 with human FIG4 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

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

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 56
      cDNA 56

      Microarray probesets 3
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 6
      Phenotypes 27
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:265103 Mironova YA, et al., Protective role of the lipid phosphatase Fig4 in the adult nervous system. Hum Mol Genet. 2018 Jul 15;27(14):2443-2453

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory