help  | about  | cite  | software

Gene : FGD1 Homo sapiens

Name  ? FYVE, RhoGEF and PH domain containing 1 Cytological Location  Xp11.22
Brief Description  FYVE, RhoGEF and PH domain containing 1
description  This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]
  • synonyms:
  • FGDY,
  • HGNC:3663,
  • OTTHUMG00000021627,
  • MRXS16,
  • NM_004463,
  • faciogenital dysplasia (Aarskog-Scott syndrome),
  • AAS,
  • FGD1,
  • ZFYVE3,
  • uc004dtg.3,
  • U11690,
  • FGDY,
  • ZFYVE3
  • identifiers:
  • 2245,
  • ENSG00000102302,
  • FGD1

Genome feature

Region: gene ? Length: 50713  
Location: X:54445454-54496166 reverse strand Cyto location: Xp11.22


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

15 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results