FGD4 (FYVE, RhoGEF and PH domain containing 4)

2006-10-01  

Identity

HGNC
LOCATION
12p11.21
LOCUSID
ALIAS
CMT4H,FRABP,ZFYVE6
FUSION GENES

Other Information

Locus ID:

NCBI: 121512
MIM: 611104
HGNC: 19125
Ensembl: ENSG00000139132

Variants:

dbSNP: 121512
ClinVar: 121512
TCGA: ENSG00000139132
COSMIC: FGD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139132ENST00000395740E9PNX0
ENSG00000139132ENST00000427716Q96M96
ENSG00000139132ENST00000472289E9PQT1
ENSG00000139132ENST00000493087E9PNX0
ENSG00000139132ENST00000494977H0YDQ0
ENSG00000139132ENST00000525053E9PJX4
ENSG00000139132ENST00000531134B7Z493
ENSG00000139132ENST00000534526F8VWL3
ENSG00000139132ENST00000546442F8W1R0
ENSG00000139132ENST00000551984F8VVF1
ENSG00000139132ENST00000583694J3KSS3

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450761paclitaxelChemicalClinicalAnnotationassociatedPD22843789

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
228437892012A genome-wide association study identifies novel loci for paclitaxel-induced sensory peripheral neuropathy in CALGB 40101.62
175649592007Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.47
175649722007Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.45
151330422004Phosphatidylinositol 3-kinase and frabin mediate Cryptosporidium parvum cellular invasion via activation of Cdc42.24
225897222012Epstein-Barr virus-encoded LMP1 interacts with FGD4 to activate Cdc42 and thereby promote migration of nasopharyngeal carcinoma cells.21
193326932009Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.9
222951162012Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking.9
192212942009A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.6
277368462016Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.6

Citation

Dessen P

FGD4 (FYVE, RhoGEF and PH domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43262/fgd4