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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Fig4 ± 2 cM)

Gene Tree: Fig4

Human ortholog

FIG4 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) NCBI Gene ID 9896
Human Synonyms: ALS11, CMT4J, dJ249I4.1, KIAA0274, SAC3
Human Chr6:110012424-110146634 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human FIG4 (2)

Alleles and phenotypes

All alleles(16) : Targeted(3) Gene trapped(12) Spontaneous(1)
 

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 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	cell death, locomotory behavior, ...
Component	endoplasmic reticulum, endosome, ...
Function	hydrolase activity, phosphatidylinositol-3-phosphatase 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 Type	Results
RNA in situ	34

cDNA source data(55)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(55) cDNA(55)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000038417 (Evidence)
Entrez Gene	103199 (Evidence)
UniGene	277242
DFCI	TC1574966
DoTS	DT.99861161
NIA Mouse Gene Index	U031718
EC	3.1.3.-
Consensus CDS Project	CCDS23803.1
International Mouse Knockout Project Status	Fig4

Sequences

Length	Strain/Species
genomic	103199	NCBI Gene Model | MGI Sequence Detail	115070	C57BL/6J
transcript	NM_133999	RefSeq | MGI Sequence Detail	3278	FVB/N
polypeptide	Q91WF7	UniProt | EBI | MGI Sequence Detail	907	Not Applicable

All sequences(28) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(478 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190368 Zolov SN, et al., In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17472-7
All references(42)