Identity
HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
AAS,FGDY,MRXS16,ZFYVE3
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: 2245
MIM: 300546
HGNC: 3663
Ensembl: ENSG00000102302
Variants:
dbSNP: 2245
ClinVar: 2245
TCGA: ENSG00000102302
COSMIC: FGD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000102302 | ENST00000375135 | P98174 |
| ENSG00000102302 | ENST00000375135 | A0A024R9Y5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35388608 | 2022 | Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. | 3 |
| 35388608 | 2022 | Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features. | 3 |
| 34145742 | 2021 | A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. | 0 |
| 34783295 | 2021 | Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway. | 0 |
| 34145742 | 2021 | A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. | 0 |
| 34783295 | 2021 | Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1) suppresses melanoma progression by inhibiting PI3K/AKT signaling pathway. | 0 |
| 32194840 | 2020 | FGD1 promotes tumor progression and regulates tumor immune response in osteosarcoma via inhibiting PTEN activity. | 26 |
| 32381089 | 2020 | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | 6 |
| 32673397 | 2020 | Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia. | 15 |
| 32194840 | 2020 | FGD1 promotes tumor progression and regulates tumor immune response in osteosarcoma via inhibiting PTEN activity. | 26 |
| 32381089 | 2020 | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | 6 |
| 32673397 | 2020 | Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the formation of invadopodia. | 15 |
| 28103835 | 2017 | A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. | 2 |
| 28103835 | 2017 | A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE. | 2 |
| 27199457 | 2016 | Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease. | 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-(fyve-rhogef-and-ph-domain-containing-1)
