FIG4 (FIG4 phosphoinositide 5-phosphatase)

2013-12-01  

Identity

HGNC
FIG4
LOCATION
6q21
LOCUSID
9896
ALIAS
ALS11,BTOP,CMT4J,KIAA0274,SAC3,YVS,dJ249I4.1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379507602024Clinical and genetic features of patients suffering from CMT4J.0
379507602024Clinical and genetic features of patients suffering from CMT4J.0
362637042022PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor.0
362637042022PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor.0
334053572021Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.5
345547602021Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.3
334053572021Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.5
345547602021Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID.3
323859052020Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.6
323859052020Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.6
307408132019Cerebral hypomyelination associated with biallelic variants of FIG4.10
313130762019Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.2
307408132019Cerebral hypomyelination associated with biallelic variants of FIG4.10
313130762019Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.2
295182702018Myelin 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/gene-fusions/meetings/css/template-nav.css