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FGD1 Gene

protein-coding GIFtS: 60
GCID: GC0XM054488

FYVE, RhoGEF And PH Domain Containing 1

(Previous name: faciogenital dysplasia (Aarskog-Scott syndrome))
(Previous symbol: FGDY)

See related diseases
at

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(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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Aliases
FYVE, RhoGEF And PH Domain Containing 1¹ ²		ZFYVE3² ³
FGDY¹ ² ³ ⁵		AAS² ⁵
Faciogenital Dysplasia 1 Protein² ³		MRXS16² ⁵
Rho/Rac GEF² ³		Faciogenital Dysplasia (Aarskog-Scott Syndrome)¹
Rho/Rac Guanine Nucleotide Exchange Factor FGD1² ³		FYVE, RhoGEF And PH Domain-Containing Protein 1²
Zinc Finger FYVE Domain-Containing Protein 3² ³

External Ids:	HGNC: 3663¹	Entrez Gene: 2245²	Ensembl: ENSG00000102302⁷	OMIM: 300546⁵	UniProtKB: P98174³

Export aliases for FGD1 gene to outside databases

Previous GC identifers: GC0XM051323 GC0XM052410 GC0XM053077 GC0XM053438 GC0XM054354 GC0XM051522

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

faciogenital dysplasia and X-linked mental retardation, syndromatic 16.(provided by RefSeq, Mar 2011)

GeneCards Summary for FGD1 Gene:

FGD1 (FYVE, RhoGEF and PH domain containing 1) is a protein-coding gene. Diseases associated with FGD1 include fgd1-related x-linked mental retardation, and aarskog-scott syndrome. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHF2.

UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174

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 Wiki entry 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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Regulatory elements:

Regulatory transcription factor binding sites in the FGD1 gene promoter:
Max1 CREB RP58 PPAR-gamma1 deltaCREB AP-2beta PPAR-gamma2 AP-2gamma c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FGD1 promoter sequence

Search Chromatin IP Primers for FGD1

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.21 Ensembl cytogenetic band: Xp11.22 HGNC cytogenetic band: Xp11.21

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

GeneLoc information about chromosome X GeneLoc Exon Structure

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

Start:	54,471,887 bp from pter	End:	54,522,599 bp from pter
Size:	50,713 bases	Orientation:	minus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174 (See protein sequence)

Recommended Name: FYVE, RhoGEF and PH domain-containing protein 1

Size: 961 amino acids; 106561 Da

Subunit: Interacts with DBNL/ABP1 and CTTN. May interact with CCPG1 (By similarity). Binds CDC42

Secondary accessions: Q5H999 Q8N4D9

Explore the universe of human proteins at neXtProt for FGD1: NX_P98174

Explore proteomics data for FGD1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See FGD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_004454.2

ENSEMBL proteins:

ENSP00000364277

Reactome Protein details: P98174

FGD1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

ZFYVE: Zinc fingers, FYVE domain containing

PLEKH: Pleckstrin homology (PH) domain containing

ARHGEF: Rho guanine nucleotide exchange factors

Selected InterPro protein domains (see all 6):

IPR000219 DH-domain

IPR001849 Pleckstrin_homology

IPR000306 Znf_FYVE

IPR011993 PH_like_dom

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry P98174

ProtoNet protein and cluster: P98174

3 Blocks protein domains:

IPB000219 DH domain

IPB000306 Zn-finger

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174

Domain: The DH domain is involved in interaction with CCPG1 (By similarity)

Similarity: Contains 1 DH (DBL-homology) domain

Similarity: Contains 1 FYVE-type zinc finger

Similarity: Contains 2 PH domains

FGD1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: FGD1_HUMAN, P98174

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

Genatlas biochemistry entry for FGD1:

Rho/Rac,CDC42Hs specific (guanine nucleotide exchange factor) 1,involved in signal transduction and mammalian

morphogenesis

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	8969170
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005515	protein binding	--	--
GO:0031267	small GTPase binding	IDA	8969170
GO:0046872	metal ion binding	IEA	--

FGD1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for FGD1:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FGD1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FGD1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FGD1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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):
		hsa-miR-328 hsa-miR-429 hsa-miR-106a hsa-miR-488 hsa-miR-650 hsa-miR-183* hsa-miR-93 hsa-miR-4293

		SwitchGear 3'UTR luciferase reporter plasmid: FGD1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for FGD1
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Gene Editing
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

FGD1_HUMAN, P98174: Cytoplasm (By similarity). Cell projection, lamellipodium (By similarity). Cell projection,

ruffle (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Associated with membrane ruffles and

lamellipodia (By similarity)

Subcellular locations from COMPARTMENTS:

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

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001726	ruffle	ISS	--
GO:0005634	nucleus	--	--
GO:0005737	cytoplasm	ISS	--
GO:0005794	Golgi apparatus	ISS	--
GO:0005829	cytosol	TAS	--

FGD1 for ontologies About GeneDecksing

(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 GeneDecks, 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).
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SuperPaths for FGD1 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Regulation of actin cytoskeleton

Regulation of actin cytoskeleton

0.57

Regulation of Actin Cytoskeleton

0.57

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

Signaling by GPCR

	Signaling by GPCR	0.90			Signal Transduction	0.58
	GPCR downstream signaling	0.90

Rho GTPase cycle

Rho GTPase cycle

1.00

Signaling by Rho GTPases

1.00

Signaling by FGFR

Signalling by NGF

0.71

Pathways by source See SuperPaths
Show all pathways

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

FGD1 for pathways About GeneDecksing

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for FGD1
Interactions:

GeneGlobe Interaction Network for FGD1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for FGD1 (P98174³ ENSP00000364277⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTTN	Q14247³, ENSP00000301843⁴	I2D: score=4 STRING: ENSP00000301843
BTRC	Q9Y297³, ENSP00000359206⁴	I2D: score=1 STRING: ENSP00000359206
ELMO1	Q92556³, ENSP00000312185⁴	I2D: score=1 STRING: ENSP00000312185
AOC1	P19801³, ENSP00000354193⁴	I2D: score=1 STRING: ENSP00000354193
CDC42	P60953³, ENSP00000314458⁴	I2D: score=2 STRING: ENSP00000314458

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007010	cytoskeleton organization	ISS	--
GO:0007165	signal transduction	TAS	8969170
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0007275	multicellular organismal development	TAS	8969170
GO:0008360	regulation of cell shape	ISS	--

FGD1 for ontologies About GeneDecksing

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for FGD1

1 HMDB Compound for FGD1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FGD1 gene:

NM_004463.2

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000375135(uc011moi.1 uc004dtg.3)

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):
		hsa-miR-328 hsa-miR-429 hsa-miR-106a hsa-miR-488 hsa-miR-650 hsa-miR-183* hsa-miR-93 hsa-miR-4293

		SwitchGear 3'UTR luciferase reporter plasmid: FGD1 3' UTR sequence

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat FGD1
		QuantiTect SYBR Green Assays in human, mouse, rat FGD1
		QuantiFast Probe-based Assays in human, mouse, rat FGD1

Selected AceView cDNA sequences (see all 75):

BM015102 BU784520 F02726 AA340451 BU616385 BC034530 F06440 AI061073

CR617413 AI952456 CA454492 BE646316 NM_004463 BM727192 BM459559 AA887332

AL042434 BX105053 BU849473 U11690 BM467773 BG025170 BM681662 AL042435

GeneLoc Exon Structure

(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 GeneDecks, 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

FGD1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Limb (Muscoskeletal System)
Stylopod

Eye (Sensory Organs)
Retina

FGD1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

FGD1 Protein Expression

UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174

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

heart, brain, lung, pancreas and skeletal muscle

Custom PCR Arrays for FGD1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FGD1

(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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This gene was present in the common ancestor of animals.

Orthologs for FGD1 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fgd1^{1 , 5}	FYVE, RhoGEF and PH domain containing 1^{1, 5}	91.56(n)¹ 94.58(a)¹		X (68.46 cM)⁵ 14163¹ NM_008001.4¹ NP_032027.2¹ 151046150⁵
lizard (Anolis carolinensis)	Reptilia	FGD1⁶	FYVE, RhoGEF and PH domain containing 1	68(a)	1 ↔ 1	1(205249099-205318129)
tropical clawed frog (Xenopus tropicalis)	Amphibia	fgd1¹	FYVE, RhoGEF and PH domain containing 1	65.75(n) 67.89(a)		100489369 XM_004914189.1 XP_004914246.1
zebrafish (Danio rerio)	Actinopterygii	fgd1¹	FYVE, RhoGEF and PH domain containing 1	70.19(n) 74.19(a)		560305 XM_683702.4 XP_688794.3
fruit fly (Drosophila melanogaster)	Insecta	RhoGEF4⁶	RhoGEF4	20(a)	many ↔ many	3L(7314199-7316511)
worm (Caenorhabditis elegans)	Secernentea	exc-5³	PH (pleckstrin homology) domain	28(a)		IV(8801069-8802157) --

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

FGD1 for paralogs About GeneDecksing

(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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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28935497^1,2,,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	--	--	--	--
rs28935498^1,2,,4	C	pathogenic¹	54510901(-)	`CTGCCC/TTGGGC`	2	P L	mis¹		1		NA	3628
rs191111594^1,2		--	54485778(+)	`ACACAC/TGCAAC`	1	--	ds500¹		0	--	--	--	--
rs183704938^1,2		--	54485779(+)	`CACACC/GCAACA`	1	--	ds500¹		0	--	--	--	--
rs187428092^1,2		--	54485803(+)	`GCCCAA/GAACTT`	1	--	ds500¹		0	--	--	--	--
rs190306230^1,2		--	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

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 300546
OMIM disorders: 305400
UniProtKB/Swiss-Prot: FGD1_HUMAN, P98174

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. 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

Selected diseases for FGD1 (see all 26):
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scott syndrome non-specific x-linked mental retardation developmental disabilities polymicrogyria

brachydactyly cocaine dependence mental retardation short stature

nicotine dependence anaplastic astrocytoma attention deficit hyperactivity disorder mental retardation, x-linked

arthropathy alcohol dependence astrocytoma tuberculosis

4 diseases from the University of Copenhagen DISEASES database for FGD1:

Aarskog-Scott syndrome Nicotine dependence Alcohol dependence Cocaine dependence

FGD1 for disorders About GeneDecksing

7 Novoseek inferred disease relationships for FGD1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
aarskog syndrome	96.1	11	10906777 (2), 10458911 (2), 11093277 (2), 10721717 (2) (see all 7)
genitourinary anomaly	77.2	1	15809997 (1)
dysplasia	76.2	29	10906777 (2), 9268645 (2), 12913069 (2), 10721717 (2) (see all 14)
short stature	70.1	1	15809997 (1)
developmental disabilities	68.5	4	10906777 (1), 10458911 (1), 10721717 (1), 8994827 (1)
brachydactyly	66	1	15809997 (1)
mental retardation	42.2	2	11940089 (2)

Genatlas disease: FGD1

Aarskog syndrome,faciogenital dysplasia and brachydactyly

Genetic Association Database (GAD): FGD1

Export disorders for FGD1 gene to outside databases

(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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PubMed articles for FGD1 gene, integrated from 10 sources (see all 58):
(articles sorted by number of sources associating them with FGD1)

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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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2245	HGNC: 3663	AceView: FGD1	Ensembl:ENSG00000102302	euGenes: HUgn2245
ECgene: FGD1	Kegg: 2245	H-InvDB: FGD1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for FGD1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FGD1[genesymbol]

Intellectual Property for FGD1 gene
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FYVE, RhoGEF And PH Domain Containing 1

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