FIG4 (FIG4 phosphoinositide 5-phosphatase)

2013-12-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
ALS11,BTOP,CMT4J,KIAA0274,SAC3,YVS,dJ249I4.1
FUSION GENES

Other Information

Locus ID:

NCBI: 9896
MIM: 609390
HGNC: 16873
Ensembl: ENSG00000112367

Variants:

dbSNP: 9896
ClinVar: 9896
TCGA: ENSG00000112367
COSMIC: FIG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112367ENST00000230124Q92562
ENSG00000112367ENST00000368941Q5TCS4
ENSG00000112367ENST00000415980H0Y6G7
ENSG00000112367ENST00000419951Q5JRV4
ENSG00000112367ENST00000454215Q5TCS5

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the Golgi membraneREACTOMER-HSA-1660514
Synthesis of PIPs at the early endosome membraneREACTOMER-HSA-1660516
Synthesis of PIPs at the late endosome membraneREACTOMER-HSA-1660517

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175726652007Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.182
191188162009Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.125
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
236233872013Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.42
217054202011Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.38
189506392008ArPIKfyve homomeric and heteromeric interactions scaffold PIKfyve and Sac3 in a complex to promote PIKfyve activity and functionality.33
198409462009PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis.29
204723252011FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.25
240853472013Amyotrophic lateral sclerosis: an update on recent genetic insights.23
206308772010ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.22

Citation

Dessen P

FIG4 (FIG4 phosphoinositide 5-phosphatase)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53747/fig4-(fig4-phosphoinositide-5-phosphatase)