Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2245
Gene name	FYVE, RhoGEF and PH domain containing 1
Gene symbol	FGD1
Synonyms (NCBI Gene)	AASFGDYMRXS16ZFYVE3
Chromosome	X
Chromosome location	Xp11.22
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 e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28935497	C>T	Pathogenic	Coding sequence variant, missense variant
rs28935498	G>A	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs137853264	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853265	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853266	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853267	T>C	Pathogenic	Coding sequence variant, missense variant
rs150865566	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs200707592	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201996522	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906718	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124155	A>C	Pathogenic	Stop gained, coding sequence variant
rs398124156	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124159	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398124160	G>A	Pathogenic	Stop gained, coding sequence variant
rs398124161	->AA	Pathogenic	Frameshift variant, coding sequence variant
rs398124162	->G	Pathogenic	Frameshift variant, coding sequence variant
rs756586058	G>-,GG,GGGGGGGGAGGGGCTCCGGGGGGGGGGG	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, inframe insertion
rs794727099	T>C	Pathogenic	Splice acceptor variant
rs1277307657	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1557189252	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557189455	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1557189592	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557189608	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557189664	G>A	Pathogenic	Stop gained, coding sequence variant
rs1557191567	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557191602	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569541211	C>T	Pathogenic	Splice donor variant
rs1569541255	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1601950553	C>T	Pathogenic	Splice acceptor variant
rs1601953552	A>T	Pathogenic	Coding sequence variant, stop gained
rs1601953661	C>T	Pathogenic	Coding sequence variant, stop gained
rs1601954686	GAG>-	Pathogenic	Coding sequence variant, inframe deletion

265

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miRTarBase ID	miRNA	Experiments	Reference
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	28735896
MIRT610382	hsa-miR-3909	HITS-CLIP	28735896
MIRT610382	hsa-miR-3909	HITS-CLIP	28735896
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	28735896
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	28735896
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	28735896
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	28735896
MIRT610379	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT610379	hsa-miR-676-3p	HITS-CLIP	28735896
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	28735896
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT613879	hsa-miR-670-5p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT613878	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT613877	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT613876	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT610383	hsa-miR-7151-5p	HITS-CLIP	23824327
MIRT610382	hsa-miR-3909	HITS-CLIP	23824327
MIRT610381	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT610380	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT610379	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT610378	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT610377	hsa-miR-4640-3p	HITS-CLIP	23824327
MIRT995167	hsa-miR-1225-3p	CLIP-seq
MIRT995168	hsa-miR-1324	CLIP-seq
MIRT995169	hsa-miR-3136-5p	CLIP-seq
MIRT995170	hsa-miR-3160-3p	CLIP-seq
MIRT995171	hsa-miR-3179	CLIP-seq
MIRT995172	hsa-miR-3192	CLIP-seq
MIRT995173	hsa-miR-3202	CLIP-seq
MIRT995174	hsa-miR-3689a-3p	CLIP-seq
MIRT995175	hsa-miR-3689c	CLIP-seq
MIRT995176	hsa-miR-3943	CLIP-seq
MIRT995177	hsa-miR-4283	CLIP-seq
MIRT995178	hsa-miR-4439	CLIP-seq
MIRT995179	hsa-miR-4447	CLIP-seq
MIRT995180	hsa-miR-4472	CLIP-seq
MIRT995181	hsa-miR-4487	CLIP-seq
MIRT995182	hsa-miR-4488	CLIP-seq
MIRT995183	hsa-miR-4489	CLIP-seq
MIRT995184	hsa-miR-4513	CLIP-seq
MIRT995185	hsa-miR-4646-3p	CLIP-seq
MIRT995186	hsa-miR-4697-5p	CLIP-seq
MIRT995187	hsa-miR-4728-5p	CLIP-seq
MIRT995188	hsa-miR-4747-5p	CLIP-seq
MIRT995189	hsa-miR-558	CLIP-seq
MIRT995190	hsa-miR-574-5p	CLIP-seq
MIRT995191	hsa-miR-943	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1921402	hsa-miR-676	CLIP-seq
MIRT1995088	hsa-miR-4722-3p	CLIP-seq
MIRT2229156	hsa-miR-1207-5p	CLIP-seq
MIRT2229157	hsa-miR-1293	CLIP-seq
MIRT2229158	hsa-miR-1827	CLIP-seq
MIRT2229159	hsa-miR-1915	CLIP-seq
MIRT2229160	hsa-miR-2110	CLIP-seq
MIRT2229161	hsa-miR-296-5p	CLIP-seq
MIRT2229162	hsa-miR-3064-5p	CLIP-seq
MIRT2229163	hsa-miR-3132	CLIP-seq
MIRT2229164	hsa-miR-3150b-3p	CLIP-seq
MIRT2229165	hsa-miR-3151	CLIP-seq
MIRT2229166	hsa-miR-3612	CLIP-seq
MIRT2229167	hsa-miR-4265	CLIP-seq
MIRT2229168	hsa-miR-4271	CLIP-seq
MIRT2229169	hsa-miR-4296	CLIP-seq
MIRT2229170	hsa-miR-4322	CLIP-seq
MIRT2229171	hsa-miR-4443	CLIP-seq
MIRT2229172	hsa-miR-4446-3p	CLIP-seq
MIRT995179	hsa-miR-4447	CLIP-seq
MIRT2229173	hsa-miR-4461	CLIP-seq
MIRT2229174	hsa-miR-4471	CLIP-seq
MIRT995180	hsa-miR-4472	CLIP-seq
MIRT2229175	hsa-miR-4483	CLIP-seq
MIRT995181	hsa-miR-4487	CLIP-seq
MIRT2229176	hsa-miR-4492	CLIP-seq
MIRT2229177	hsa-miR-4498	CLIP-seq
MIRT2229178	hsa-miR-4505	CLIP-seq
MIRT2229179	hsa-miR-4508	CLIP-seq
MIRT2229180	hsa-miR-4536	CLIP-seq
MIRT2229181	hsa-miR-4650-3p	CLIP-seq
MIRT2229182	hsa-miR-4689	CLIP-seq
MIRT2229183	hsa-miR-4695-5p	CLIP-seq
MIRT2229184	hsa-miR-4697-3p	CLIP-seq
MIRT2229185	hsa-miR-4725-3p	CLIP-seq
MIRT2229186	hsa-miR-4763-3p	CLIP-seq
MIRT2229187	hsa-miR-4784	CLIP-seq
MIRT2229188	hsa-miR-491-5p	CLIP-seq
MIRT2229189	hsa-miR-601	CLIP-seq
MIRT2229190	hsa-miR-650	CLIP-seq
MIRT2229191	hsa-miR-762	CLIP-seq
MIRT2229192	hsa-miR-892b	CLIP-seq
MIRT2229193	hsa-miR-940	CLIP-seq
MIRT2229158	hsa-miR-1827	CLIP-seq
MIRT2229193	hsa-miR-940	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0001726	Component	Ruffle	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	8969170
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007165	Process	Signal transduction	TAS	8969170
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0009887	Process	Animal organ morphogenesis	TAS	7954831
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	IDA	8969170
GO:0031267	Function	Small GTPase binding	IDA	8969170
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	IDA	8969170
GO:0046847	Process	Filopodium assembly	IBA
GO:0046847	Process	Filopodium assembly	IDA	8969170
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

MIM	HGNC	e!Ensembl
300546	3663	ENSG00000102302

P98174

Protein name

FYVE, RhoGEF and PH domain-containing protein 1 (Faciogenital dysplasia 1 protein) (Rho/Rac guanine nucleotide exchange factor FGD1) (Rho/Rac GEF) (Zinc finger FYVE domain-containing protein 3)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	377 → 559	RhoGEF domain	Domain
PF00169	PH	591 → 688	PH domain	Domain
PF01363	FYVE	726 → 791	FYVE zinc finger	Domain
PF00169	PH	822 → 921	PH domain	Domain

Tissue specificity

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

Sequence

MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLARRGSGSALGGPLDPQF
VGPSDTSLGAAPGHRVLPCGPSPQHHRALRFSYHLEGSQPRPGLHQGNRILVKSLSLDPG
QSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQVPPKPSYLQMPRMPPPLEPI
PPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKFEREPVIVASDRPVPGPSPGPPE
PVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGEKVPNRDSGIDSISSPSNSEETCFV
SDDGPPSHSLCPGPPALASVPVALADPHRPGSQEVDSDLEEEDDEEEEEEKDREIPVPLM
ERQESVELTVQQKVFHIANELLQTEKAYVSRLHLLDQVFCARLLEEARNRSSFPADVVHG
IFSNICSIYCFHQQFLLPELEKRMEEWDRYPRIGDILQKLAPFLKMYGEYVKNFDRAVEL
VNTWTERSTQFKVIIHEVQKEEACGNLTLQHHMLEPVQRIPRYELLLKDYLLKLPHGSPD
SKDAQKSLELIATAAEHSNAAIRKMERMHKLLKVYELLGGEEDIVSPTKELIKEGHILKL
SAKNGTTQDRYLILFNDRLLYCVPRLRLLGQKFSVRARIDVDGMELKESSNLNLPRTFLV
SGKQRSLELQARTEEEKKDWVQAINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDL
GKRAPTPIREKEVTMCMRCQEPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNR
VCTDCYVALHGVPGSSPACSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHK
AWFVVPENEPLVLYIYGAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWY
FSPETEELQRRWMAVLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDK
T

Sequence length

961

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton		NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aarskog syndrome	Likely pathogenic; Pathogenic	rs1922347865, rs2147434002, rs2522684473, rs2522688358, rs2522698958, rs2522709567, rs28935497, rs2522692204, rs137853266, rs1569541255, rs137853267, rs2522688418, rs61734178, rs2522693895, rs2522709066 View all (17 more)	RCV001333253 RCV002226911 RCV002283741 RCV002290078 RCV003145147 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FGD1-related disorder	Pathogenic; Likely pathogenic	rs931466859, rs2499311959, rs2522716359, rs1557191602, rs1557189664, rs1557189252, rs1269514277	RCV004548370 RCV003963733 RCV003944041 RCV004752911 RCV004752956 RCV003392457 RCV003403518 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic	rs931466859	RCV004798972	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic	rs2147434008	RCV002274421	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs794727099	RCV005889767	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AARSKOG-SCOTT SYNDROME, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FOOT DEFORMITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 95	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic X-linked intellectual disability Claes-Jensen type	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (85)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aarskog syndrome	Aarskog Syndrome	BEFREE	10458911, 10721717, 10906777, 10930571, 11093277, 11181572, 11241498, 11751687, 11940089, 14560308, 15809997, 16353258, 17152066, 17847065, 19110080 View all (15 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	CLINGEN_DG	10930571, 11093277, 16353258, 20082460, 21739585, 7954831		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	CTD_human_DG	10930571, 11093277, 14560308, 15327482, 17152066, 7954831		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	UNIPROT_DG	10930571, 11093277, 14560308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	GENOMICS_ENGLAND_DG	15809997, 17847065, 20082460		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog syndrome	Aarskog Syndrome	ORPHANET_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aarskog-Scott syndrome	Aarskog-Scott Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	17223989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	20196819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	30699216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26488131, 28389219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26488131, 28389219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	15809997		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	15809997, 24770546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CTD_human_DG	15809997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive facio-digito-genital syndrome	Faciodigitogenital syndrome	CTD_human_DG	10930571, 11093277, 14560308, 15327482, 17152066, 7954831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19141649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	10930571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35718636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34184409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	29181398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	30699216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	39798962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	17847065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	CTD_human_DG	11940089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	11093277		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranioschisis	Anencephaly	CTD_human_DG	11093277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28389219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10458911, 10721717, 10906777, 22854039, 24446295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35271662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15809997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11940089, 14560308, 15809997, 16353258, 16688726, 17152066, 19110080, 20082460, 22211847, 24307393, 8969170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	15809997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	28492953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial glucocorticoid deficiency	Glucocorticoid Deficiency	BEFREE	17223989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency Type 1	Glucocorticoid Deficiency	BEFREE	10906777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	32381089	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19141649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27199457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28389219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	11940089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	11940089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	11940089		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	Mental Retardation, X-Linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	25258334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Minimal Brain Dysfunction	Minimal Brain Dysfunction	CTD_human_DG	15809997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11940089, 14560308, 15809997, 16353258, 16688726, 17152066, 19110080, 20082460, 22211847, 24307393, 8969170		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19141649, 22854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10906777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	17847065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hypertrophy	Prostatic Hypertrophy	BEFREE	28389219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27199457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28525484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	35271662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	14560308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23443263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	25258334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	CTD_human_DG	10930571, 11093277, 7954831		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FGD1 (FYVE, RhoGEF and PH domain containing 1)