FGD1 Gene

Aliases
for FGD1 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC0XM051323 GC0XM052410 GC0XM053077 GC0XM053438 GC0XM054354 GC0XM051522

Summaries
for FGD1 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for FGD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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SwitchGear Promoter luciferase reporter plasmid: FGD1 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FGD1

FGD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM054488:  view genomic region     (about GC identifiers)

Proteins
for FGD1 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for FGD1: NX_P98174

Explore proteomics data for FGD1 at MOPED

Post-translational modifications: 

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Domains /
Families
for FGD1 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P98174

Find genes that share domains with FGD1           About GenesLikeMe

Function
for FGD1 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for FGD1

miRNA Products:		Block miRNA regulation of human, mouse, rat FGD1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate FGD1 (see all 34):
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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

Localization
for FGD1 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	4
golgi apparatus	4
nucleus	4
plasma membrane	4
cytoskeleton	2
extracellular	2

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Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

Pathways & Interactions
for FGD1 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for FGD1 About   (see all 8)   See pathways by source

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	SuperPath	Contained pathways About
1	Regulation of actin cytoskeleton	Regulation of Actin Cytoskeleton 0.57 Regulation of actin cytoskeleton 0.57
2	p75 NTR receptor-mediated signalling	p75 NTR receptor-mediated signalling 0.74 NRAGE signals death through JNK 0.71 Cell death signalling via NRAGE, NRIF and NADE 0.74 G alpha (12/13) signalling events 0.44
3	Signaling by GPCR	Signaling by GPCR 0.90 Signal Transduction 0.58 GPCR downstream signaling 0.90
4	Rho GTPase cycle	Signaling by Rho GTPases 1.00 Rho GTPase cycle 1.00
5	Signaling by FGFR	Signalling by NGF 0.71

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for FGD1

CDC42 Pathway

1 GeneGo (Thomson Reuters) Pathway for FGD1

G-protein signaling Regulation of CDC42 activity

2 BioSystems Pathways for FGD1

	Regulation of Actin Cytoskeleton
	Regulation of CDC42 activity

3 Reactome Pathways for FGD1

	G alpha (12/13) signalling events
	NRAGE signals death through JNK
	Rho GTPase cycle

1 Kegg Pathway  (Kegg details for FGD1)

Regulation of actin cytoskeleton

Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

Drugs & Compounds
for FGD1 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for FGD1 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for FGD1 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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FGD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Limb (Muscoskeletal System)
Stylopod
Eye (Sensory Organs)
Retina

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

Orthologs
for FGD1 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for FGD1 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for FGD1 gene

PLEKHF2²  FGD3²  FGD5²  PLEKHF1²  FGD2²  FGD6²  FGD4²  

4 SIMAP similar genes for FGD1 using alignment to 1 protein entry:     FGD1_HUMAN:

FGD2    FGD4    FGD3    FLJ00004

Find genes that share paralogs with FGD1           About GenesLikeMe

Genomic Variants
for FGD1 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for FGD1 (see all 698)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs289354971,2,,4	C	Aarskog-Scott syndrome (AAS)4 pathogenic1	54496952(-)	AGACCA/GATACC	2	Q R	mis1 ese3		0	--	--	--	--
VAR_0192704		Aarskog-Scott syndrome (AAS)4	--	see VAR_019270	2	E A	mis4		0	--	--	--	--
VAR_0152364		Aarskog-Scott syndrome (AAS)4	--	see VAR_015236	2	R H	mis4		0	--	--	--	--
VAR_0192714		Aarskog-Scott syndrome (AAS)4	--	see VAR_019271	2	R H	mis4		0	--	--	--	--
VAR_0192684		Aarskog-Scott syndrome (AAS)4	--	see VAR_019268	2	S I	mis4		0	--	--	--	--
rs289354981,2,,4	C	pathogenic1	54510901(-)	CTGCCC/TTGGGC	2	P L	mis1		1		NA	3628
rs1911115941,2		--	54485778(+)	ACACAC/TGCAAC	1	--	ds5001		0	--	--	--	--
rs1837049381,2		--	54485779(+)	CACACC/GCAACA	1	--	ds5001		0	--	--	--	--
rs1874280921,2		--	54485803(+)	GCCCAA/GAACTT	1	--	ds5001		0	--	--	--	--
rs1903062301,2		--	54485832(+)	TGCCTG/TCCTTC	1	--	ds5001		0	--	--	--	--

HapMap Linkage Disequilibrium report for FGD1 (54471887 - 54522599 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for FGD1:    About this table    

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

Human Gene Mutation Database (HGMD): FGD1
Locus Specific Mutation Databases (LSDB): FGD1

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing FGD1

DNA2.0 Custom Variant and Variant Library Synthesis for FGD1

Disorders / Diseases
for FGD1 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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7 diseases for FGD1

7 Novoseek inferred disease relationships for FGD1 gene    About this table

Publications
for FGD1 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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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. (PubMed id 14560308)^{1, 2, 4, 9} Orrico A.... Sorrentino V. (Eur. J. Hum. Genet. 2004)
2. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. (PubMed id 11940089)^{1, 2, 4, 9} Lebel R.R....Schwartz C.E. (Clin. Genet. 2002)
3. A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). (PubMed id 10930571)^{1, 2, 9} Orrico A.... Sorrentino V. (FEBS Lett. 2000)
4. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. (PubMed id 11093277)^{1, 2, 9} Schwartz C.E.... Neri G. (Eur. J. Hum. Genet. 2000)
5. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. (PubMed id 7954831)^{1, 2, 9} Pasteris N.G.... Gorski J.L. (Cell 1994)
6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
7. The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs- specific guanine-nucleotide exchange factor. (PubMed id 8969170)^{1, 2} Zheng Y.... Xu Y. (J. Biol. Chem. 1996)
8. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). (PubMed id 10906777)^{1, 9} Gorski J.L....Liu Z. (Dev. Dyn. 2000)
9. Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation. (PubMed id 19261807)^{1, 9} Egorov M.V....Polishchuk R.S. (Mol. Biol. Cell 2009)
10. Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape. (PubMed id 12913069)^{1, 9} Hou P....Gorski J.L. (Hum. Mol. Genet. 2003)

External Searches for FGD1 gene

Genome Databases showing FGD1 gene

Other Databases showing FGD1 gene

Specialized Databases showing FGD1 gene

Products
for FGD1 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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