Fgd1 Gene Search Result

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5 records found for search term Fgd1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1351228	FGD1	FYVE, RhoGEF and PH domain containing 1	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. ... (more) 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]	X	54445454	54496234	Human	300	symbol , old_gene_name , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
1320399	FGD2	FYVE, RhoGEF and PH domain containing 2	The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The enc ... (more) oded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]	6	37005655	37029069	Human	106	old_gene_name	gene, protein-coding, REVIEWED [RefSeq]
1323332	FGD3	FYVE, RhoGEF and PH domain containing 3	Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in actin cytoskeleton organization; filopodium assembly; and regulation of cell shape. Predicted to be located in Golgi apparatus; lamellipodium; and ruffle. Predicted to be act ... (more) ive in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]	9	92947523	93036233	Human	98	old_gene_name	gene, protein-coding, VALIDATED [RefSeq]
732078	FGD4	FYVE, RhoGEF and PH domain containing 4	This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAP ... (more) K8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]	12	32399558	32646050	Human	277	old_gene_name	gene, protein-coding, REVIEWED [RefSeq]
1317522	FARP2	FERM, ARH/RhoGEF and pleckstrin domain protein 2	Enables guanyl-nucleotide exchange factor activity. Acts upstream of or within Rac protein signal transduction and neuron remodeling. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]	2	241356285	241494841	Human	87	old_gene_name	gene, protein-coding, VALIDATED [RefSeq]