FGD4 (FYVE, RhoGEF and PH domain containing 4)

2006-10-01  

Identity

HGNC
FGD4
LOCATION
12p11.21
LOCUSID
121512
ALIAS
CMT4H,FRABP,ZFYVE6
FUSION GENES
Show Gene Fusions

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
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
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450761paclitaxelChemicalClinicalAnnotationassociatedPD22843789

References

Pubmed IDYearTitleCitations
337097892021Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.2
337097892021Polymorphism of FGD4 and myelosuppression in patients with esophageal squamous cell carcinoma.2
318529842020Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.4
326333232020Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/β-catenin signalling pathway.11
327729282020MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.3
318529842020Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.4
326333232020Circular RNA circFGD4 suppresses gastric cancer progression via modulating miR-532-3p/APC/β-catenin signalling pathway.11
327729282020MiR-23a induced the activation of CDC42/PAK1 pathway and cell cycle arrest in human cov434 cells by targeting FGD4.3
305586642018Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer.7
305586642018Expression of FGD4 positively correlates with the aggressive phenotype of prostate cancer.7
277368462016Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.18
277368462016Genotypes of CYP2C8 and FGD4 and their association with peripheral neuropathy or early dose reduction in paclitaxel-treated breast cancer patients.18
264004212015Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.3
264004212015Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.3
235508892013A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.7

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-(fyve-rhogef-and-ph-domain-containing-4)