FGD1 (FYVE, RhoGEF and PH domain containing 1)

2006-10-01  

Identity

HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
AAS,FGDY,MRXS16,ZFYVE3
FUSION GENES

Other Information

Locus ID:

NCBI: 2245
MIM: 300546
HGNC: 3663
Ensembl: ENSG00000102302

Variants:

dbSNP: 2245
ClinVar: 2245
TCGA: ENSG00000102302
COSMIC: FGD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102302ENST00000375135P98174
ENSG00000102302ENST00000375135A0A024R9Y5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
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

References

Pubmed IDYearTitleCitations
191416492009Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer.31
192618072009Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation.24
119400892002Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.21
200824602010Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.14
231693942013Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.10
157434132005The FWD1/beta-TrCP-mediated degradation pathway establishes a 'turning off switch' of a Cdc42 guanine nucleotide exchange factor, FGD1.8
228540392012FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.7
166887262006Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.5
178470652007Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.5
191100802009First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.5

Citation

Dessen P

FGD1 (FYVE, RhoGEF and PH domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43259/fgd1