FGD1 - FYVE, RhoGEF and PH domain containing 1 Gene

Homo sapiens

Also known as AAS; FGDY; MRXS16; ZFYVE3

Gene ID: 2245 | Gene type: protein coding

About FGD1

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:54,445,454-54,496,234 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in endometrium (RPKM 4.2), brain (RPKM 3.6) and 25 other tissues.

Summary

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]

FGD1 Products(1)

mRNA	Protein	Name
NM_004463.3	NP_004454.2	FYVE, RhoGEF and PH domain-containing protein 1

FGD1 Protein Structure

RhoGEF

FYVE

0
200
400
600
800
961 a.a.

Protein Preferred Names

Protein Names

FYVE, RhoGEF and PH domain-containing protein 1

faciogenital dysplasia 1 protein

Related Diseases

Diseases

Alias

Aarskog-Scott Syndrome

Aarskog Syndrome	Faciogenital Dysplasia
Faciodigitogenital Syndrome	AAS
Fgdy	X-Linked Aarskog Syndrome
Intellectual Developmental Disorder, X-Linked, Syndromic 16	Aarskog Syndrome, X-Linked
Intellectual Developmental Disorder, X-Linked Syndromic 16	Greig'S Syndrome
Aarskog Scott Syndrome	Aarskog Disease
Scott Aarskog Syndrome	Facio-Digito-Genital Dysplasia
Faciogenital Dysplasia With Attention Deficit-Hyperactivity Disorder	Aarskog-Scott Syndrome ) Syndrome

Scott Syndrome

SCTS	Bdplt7
Prothrombin Consumption Deficiency	Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X
Bleeding Disorder, Platelet-Type, 7	Prothrombin Conversion Defect, Familial
Prothrombin Consumption Inhibitor, Familial	Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X
Familial Prothrombin Consumption Inhibitor	Familial Prothrombin Conversion Defect
Platelet-Type Bleeding Disorder 7	Platelet Factor X Receptor Deficiency
Bleeding Disorder Platelet-Type 7	Prothrombin Consumption Inhibitor Familial
Prothrombin Conversion Defect Familial

Crane-Heise Syndrome

Cleft Lip/Palate, Agenesis Of Clavicles And Cervical Vertebrae, And Talipes Equinovarus

Unilateral Focal Polymicrogyria

Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies

GDACCF

Developmental Disabilities

Brachydactyly

Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2

Intellectual Developmental Disorder, Autosomal Dominant 56

Mental Retardation, Autosomal Dominant 56	MRD56
Autosomal Dominant Mental Retardation 56	Autosomal Dominant Intellectual Developmental Disorder 56
Autosomal Dominant Intellectual Developmental Disorder-56

Diamond-Blackfan Anemia 3

DBA3	Anemia, Diamond-Blackfan, 3
Rps24-Related Diamond-Blackfan Anemia	Anemia Diamond-Blackfan 3
Anemia, Diamond-Blackfan, Type 3

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency	Acth Resistance
Adrenal Unresponsiveness To Acth	Hereditary Unresponsiveness To Adrenocorticotropic Hormone
Isolated Glucocorticoid Deficiency	Glucocorticoid Deficiency, Familial
Glucocorticoid Deficiency 1

Syphilitic Meningitis

Syphilitic Aseptic Meningitis	Meningeal Syphilis
Meningitis, Syphilitic

Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan-Like Syndrome With Loose Anagen Hair	Mazzanti Syndrome
Ns/Lah

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities	Fetal Face Syndrome
Robinow Dwarfism	Mesomelic Dwarfism-Small Genitalia Syndrome
Robinow-Silverman-Smith Syndrome	Costovertebral Segmentation Defect With Mesomelia
Covesdem Syndrome	Robinow'S Syndrome
Robinow-Silverman Syndrome

Tetanus Neonatorum

Neonatal Tetanus	NNT
Trismus Neonatorum	Newborn Trismus

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04880	FGD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FGD1	VGNC	VGNC:28964
Canis familiaris	FGD1	VGNC	VGNC:40833
Mus musculus	FGD1	MGD	MGI:104566
Felis catus	FGD1	VGNC	VGNC:62239
Rattus norvegicus	FGD1	RGD	RGD:1565188
Macaca mulatta	FGD1	VGNC	VGNC:72642