Identity
HGNC
LOCATION
6q21
LOCUSID
ALIAS
ALS11,BTOP,CMT4J,KIAA0274,SAC3,YVS,dJ249I4.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9896
MIM: 609390
HGNC: 16873
Ensembl: ENSG00000112367
Variants:
dbSNP: 9896
ClinVar: 9896
TCGA: ENSG00000112367
COSMIC: FIG4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37950760 | 2024 | Clinical and genetic features of patients suffering from CMT4J. | 0 |
| 37950760 | 2024 | Clinical and genetic features of patients suffering from CMT4J. | 0 |
| 36263704 | 2022 | PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor. | 0 |
| 36263704 | 2022 | PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor. | 0 |
| 33405357 | 2021 | Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. | 5 |
| 34554760 | 2021 | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | 3 |
| 33405357 | 2021 | Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. | 5 |
| 34554760 | 2021 | Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID. | 3 |
| 32385905 | 2020 | Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. | 6 |
| 32385905 | 2020 | Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. | 6 |
| 30740813 | 2019 | Cerebral hypomyelination associated with biallelic variants of FIG4. | 10 |
| 31313076 | 2019 | Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. | 2 |
| 30740813 | 2019 | Cerebral hypomyelination associated with biallelic variants of FIG4. | 10 |
| 31313076 | 2019 | Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J. | 2 |
| 29518270 | 2018 | Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. | 13 |
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)
