About   Help   FAQ
Fig4
Gene Detail
 Symbol
Name
ID
Fig4
FIG4 homolog (S. cerevisiae)
MGI:2143585
Synonyms A530089I17Rik
Feature Type protein coding gene
Genetic Map
Chromosome 10
22.08 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr10:41188172-41303241 bp, - strand
From NCBI annotation of GRCm38

  115070 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:6713  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Fig4

Human
homologs
Human Homolog FIG4, FIG4 phosphoinositide 5-phosphatase
NCBI Gene ID 9896
neXtProt AC  NX_Q92562
Human Synonyms  ALS11, CMT4J, dJ249I4.1, KIAA0274, SAC3, YVS
Human Chr (Location)  6q21; chr6:109691221-109825431 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human FIG4
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(12) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a spontaneous allele exhibit premature death, severe tremors, diluted coat color, neurodegeneration, impaired coordination, muscle weakness, small size and reduced spleen.
 
Human Diseases Modeled Using Mouse Fig4 (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Fig4 interacts with 104 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (46 annotations)
Process cell death, dephosphorylation, ...
Component endoplasmic reticulum, endosome, ...
Function 5-amino-6-(5-phosphoribitylamino)uracil phosphatase activity, hydrolase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (34)    Tissues (8)    Images (13)
Theiler Stages: 23
Assay TypeResults
RNA in situ 34
cDNA source data(55)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) cDNA(55)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000038417 (Evidence)
Entrez Gene103199 (Evidence)
UniGene277242
DFCITC1574966
DoTSDT.99861161
NIA Mouse Gene IndexU031718
EC3.1.3.-
Consensus CDS ProjectCCDS23803.1
International Mouse Knockout Project StatusFig4
Sequences
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 sequences
All sequences(28) RefSeq(2) UniProt(4)
Polymorphisms SNPs within 2kb(507 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002013 Synaptojanin, N-terminal
Protein Ontology PR:000031137 polyphosphoinositide phosphatase
Graphical View of Protein Domain Structure
References (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:208363 Porrello E, et al., Jab1 regulates Schwann cell proliferation and axonal sorting through p27. J Exp Med. 2014 Jan 13;211(1):29-43
All references(47)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/09/2014
MGI 5.19
The Jackson Laboratory