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Aliases for FGD1 Gene

Aliases for FGD1 Gene

  • FYVE, RhoGEF And PH Domain Containing 1 2 3 5
  • Rho/Rac Guanine Nucleotide Exchange Factor FGD1 3 4
  • Zinc Finger FYVE Domain-Containing Protein 3 3 4
  • Faciogenital Dysplasia 1 Protein 3 4
  • Rho/Rac GEF 3 4
  • ZFYVE3 3 4
  • FGDY 3 4
  • Faciogenital Dysplasia (Aarskog-Scott Syndrome) 2
  • FYVE, RhoGEF And PH Domain-Containing Protein 1 3
  • MRXS16 3
  • AAS 3

External Ids for FGD1 Gene

Previous HGNC Symbols for FGD1 Gene

  • FGDY

Previous GeneCards Identifiers for FGD1 Gene

  • GC0XM051323
  • GC0XM052410
  • GC0XM053077
  • GC0XM053438
  • GC0XM054354
  • GC0XM051522

Summaries for FGD1 Gene

Entrez Gene Summary for FGD1 Gene

  • 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]

GeneCards Summary for FGD1 Gene

FGD1 (FYVE, RhoGEF And PH Domain Containing 1) is a Protein Coding gene. Diseases associated with FGD1 include Aarskog-Scott Syndrome and Fgd1-Related X-Linked Mental Retardation. Among its related pathways are p75 NTR receptor-mediated signalling and RET signaling. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and small GTPase binding. An important paralog of this gene is FGD4.

UniProtKB/Swiss-Prot for FGD1 Gene

  • Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.

Gene Wiki entry for FGD1 Gene

Additional gene information for FGD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGD1 Gene

Genomics for FGD1 Gene

Regulatory Elements for FGD1 Gene

Enhancers for FGD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH054042 1.1 ENCODE 11.1 +451.8 451775 3.8 PKNOX1 FOXA2 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF143 KDM5C PHF8 ACTG1P10 SMC1A ENSG00000233250 TSPYL2 APEX2 GPR173 KANTR MAGED2
GH0XH053681 1.1 ENCODE 11.1 +811.8 811795 5.9 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FAM156B PHF8 KANTR HUWE1 ACTG1P10 ENSG00000233250 TSPYL2 KDM5C FGD1 HSD17B10
GH0XH054539 0.4 ENCODE 12.7 -44.1 -44100 1 RAD21 FGD1 GNL3L GC0XM054327
GH0XH054474 0.2 ENCODE 14.5 +21.5 21500 0.9 FGD1 TSR2 GNL3L PIR39642
GH0XH054491 0.8 Ensembl ENCODE 0.7 +3.6 3587 1.2 KLF1 ZIC2 MYC ZKSCAN1 ZXDB GNL3L FGD1 PIR39642
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FGD1 on UCSC Golden Path with GeneCards custom track

Promoters for FGD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246741 666 2201 BCOR ZSCAN5A ZNF76 ZMYM3 ZNF384 ZFHX2 ZBTB48 PATZ1 PRDM10 ZBTB20

Genomic Locations for FGD1 Gene

Genomic Locations for FGD1 Gene
50,713 bases
Minus strand

Genomic View for FGD1 Gene

Genes around FGD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FGD1 Gene

Proteins for FGD1 Gene

  • Protein details for FGD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    FYVE, RhoGEF and PH domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q5H999
    • Q8N4D9

    Protein attributes for FGD1 Gene

    961 amino acids
    Molecular mass:
    106561 Da
    Quaternary structure:
    • Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42.

neXtProt entry for FGD1 Gene

Post-translational modifications for FGD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FGD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FGD1 Gene

Domains & Families for FGD1 Gene

Gene Families for FGD1 Gene

Suggested Antigen Peptide Sequences for FGD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The DH domain is involved in interaction with CCPG1.
  • The DH domain is involved in interaction with CCPG1.
genes like me logo Genes that share domains with FGD1: view

Function for FGD1 Gene

Molecular function for FGD1 Gene

GENATLAS Biochemistry:
Rho/Rac,CDC42Hs specific (guanine nucleotide exchange factor) 1,involved in signal transduction and mammalian morphogenesis
UniProtKB/Swiss-Prot Function:
Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.

Gene Ontology (GO) - Molecular Function for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
GO:0031267 small GTPase binding IDA 8969170
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGD1: view
genes like me logo Genes that share phenotypes with FGD1: view

Human Phenotype Ontology for FGD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for FGD1 Gene

Localization for FGD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGD1 Gene

Cytoplasm. Cell projection, lamellipodium. Cell projection, ruffle. Cytoplasm, cytoskeleton. Note=Associated with membrane ruffles and lamellipodia. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGD1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
cytoskeleton 4
plasma membrane 3
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS,IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FGD1: view

Pathways & Interactions for FGD1 Gene

genes like me logo Genes that share pathways with FGD1: view

Pathways by source for FGD1 Gene

Gene Ontology (GO) - Biological Process for FGD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007165 signal transduction TAS 8969170
GO:0007275 multicellular organism development TAS 8969170
GO:0008360 regulation of cell shape ISS --
GO:0009887 animal organ morphogenesis TAS 7954831
genes like me logo Genes that share ontologies with FGD1: view

No data available for SIGNOR curated interactions for FGD1 Gene

Drugs & Compounds for FGD1 Gene

(1) Drugs for FGD1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with FGD1: view

Transcripts for FGD1 Gene

mRNA/cDNA for FGD1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(75) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGD1 Gene

FYVE, RhoGEF and PH domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FGD1 Gene

No ASD Table

Relevant External Links for FGD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FGD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FGD1 Gene

This gene is overexpressed in Fetal Brain (56.9) and Urine (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FGD1 Gene

Protein tissue co-expression partners for FGD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FGD1 Gene:


SOURCE GeneReport for Unigene cluster for FGD1 Gene:


mRNA Expression by UniProt/SwissProt for FGD1 Gene:

Tissue specificity: Expressed in fetal heart, brain, lung, kidney and placenta. Less expressed in liver; adult heart, brain, lung, pancreas and skeletal muscle.

Evidence on tissue expression from TISSUES for FGD1 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • salivary gland
  • scalp
  • skull
  • tooth
  • breast
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • spleen
  • anus
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FGD1: view

No data available for mRNA differential expression in normal tissues for FGD1 Gene

Orthologs for FGD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FGD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FGD1 34 33
  • 99.03 (n)
(Canis familiaris)
Mammalia FGD1 34 33
  • 93.47 (n)
(Bos Taurus)
Mammalia FGD1 34 33
  • 93.4 (n)
(Rattus norvegicus)
Mammalia Fgd1 33
  • 92.27 (n)
(Mus musculus)
Mammalia Fgd1 16 34 33
  • 91.56 (n)
(Monodelphis domestica)
Mammalia FGD1 34
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia FGD1 34
  • 56 (a)
(Anolis carolinensis)
Reptilia FGD1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fgd1 33
  • 65.75 (n)
(Danio rerio)
Actinopterygii fgd1 34 33
  • 70.19 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF4 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea exc-5 35 34
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6211 34
  • 38 (a)
Species where no ortholog for FGD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FGD1 Gene

Gene Tree for FGD1 (if available)
Gene Tree for FGD1 (if available)

Paralogs for FGD1 Gene

Paralogs for FGD1 Gene

(4) SIMAP similar genes for FGD1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with FGD1: view

Variants for FGD1 Gene

Sequence variations from dbSNP and Humsavar for FGD1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs137853264 Pathogenic, Aarskog-Scott syndrome (AAS) [MIM:305400] 54,465,522(-) CCCCC(A/G)CTATG reference, missense
rs28935497 Pathogenic, Aarskog-Scott syndrome (AAS) [MIM:305400] 54,456,233(-) AGACC(A/G)ATACC reference, missense
VAR_019268 Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_019270 Aarskog-Scott syndrome (AAS) [MIM:305400]
VAR_019271 Aarskog-Scott syndrome (AAS) [MIM:305400]

Structural Variations from Database of Genomic Variants (DGV) for FGD1 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV deletion 17901297
esv2740175 CNV deletion 23290073

Variation tolerance for FGD1 Gene

Residual Variation Intolerance Score: 7.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FGD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGD1 Gene

Disorders for FGD1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FGD1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • aarskog syndrome
fgd1-related x-linked mental retardation
scott syndrome
  • bdplt7
crane-heise syndrome
  • cleft lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus
unilateral focal polymicrogyria
- elite association - COSMIC cancer census association via MalaCards
Search FGD1 in MalaCards View complete list of genes associated with diseases


  • Aarskog-Scott syndrome (AAS) [MIM:305400]: A rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest mental retardation, attention deficit disorder and hyperactivity. {ECO:0000269 PubMed:10930571, ECO:0000269 PubMed:11093277, ECO:0000269 PubMed:14560308}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in FGD1 are found in a patient with non-syndromal X-linked mental retardation. {ECO:0000269 PubMed:11940089}.

Genatlas disease for FGD1 Gene

Aarskog syndrome,faciogenital dysplasia and brachydactyly

Relevant External Links for FGD1

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with FGD1: view

Publications for FGD1 Gene

  1. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. (PMID: 14560308) Orrico A … Sorrentino V (European journal of human genetics : EJHG 2004) 3 4 22 45 60
  2. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. (PMID: 11940089) Lebel RR … Schwartz CE (Clinical genetics 2002) 3 4 22 45 60
  3. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (PMID: 10930571) Orrico A … Sorrentino V (FEBS letters 2000) 3 4 22 60
  4. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. (PMID: 11093277) Schwartz CE … Neri G (European journal of human genetics : EJHG 2000) 3 4 22 60
  5. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (PMID: 7954831) Pasteris NG … Gorski JL (Cell 1994) 3 4 22 60

Products for FGD1 Gene

Sources for FGD1 Gene

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