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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89846
Gene name	FYVE, RhoGEF and PH domain containing 3
Gene symbol	FGD3
Synonyms (NCBI Gene)	ZFYVE5
Chromosome	9
Chromosome location	9q22.31

Show/Hide all (44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017809	hsa-miR-335-5p	Microarray	18185580
MIRT995226	hsa-miR-1285	CLIP-seq
MIRT995227	hsa-miR-2861	CLIP-seq
MIRT995228	hsa-miR-3183	CLIP-seq
MIRT995229	hsa-miR-3187-5p	CLIP-seq
MIRT995230	hsa-miR-326	CLIP-seq
MIRT995231	hsa-miR-330-5p	CLIP-seq
MIRT995232	hsa-miR-3667-3p	CLIP-seq
MIRT995233	hsa-miR-378g	CLIP-seq
MIRT995234	hsa-miR-4328	CLIP-seq
MIRT995235	hsa-miR-4486	CLIP-seq
MIRT995236	hsa-miR-4723-3p	CLIP-seq
MIRT995237	hsa-miR-4749-3p	CLIP-seq
MIRT995238	hsa-miR-612	CLIP-seq
MIRT995226	hsa-miR-1285	CLIP-seq
MIRT995229	hsa-miR-3187-5p	CLIP-seq
MIRT1995106	hsa-miR-3194-3p	CLIP-seq
MIRT995230	hsa-miR-326	CLIP-seq
MIRT995231	hsa-miR-330-5p	CLIP-seq
MIRT1995107	hsa-miR-34a	CLIP-seq
MIRT1995108	hsa-miR-34c-5p	CLIP-seq
MIRT1995109	hsa-miR-371b-3p	CLIP-seq
MIRT995233	hsa-miR-378g	CLIP-seq
MIRT995235	hsa-miR-4486	CLIP-seq
MIRT1995110	hsa-miR-449a	CLIP-seq
MIRT1995111	hsa-miR-449b	CLIP-seq
MIRT1995112	hsa-miR-4640-5p	CLIP-seq
MIRT1995113	hsa-miR-4641	CLIP-seq
MIRT1995114	hsa-miR-4726-5p	CLIP-seq
MIRT995238	hsa-miR-612	CLIP-seq
MIRT995226	hsa-miR-1285	CLIP-seq
MIRT2229196	hsa-miR-199a-5p	CLIP-seq
MIRT2229197	hsa-miR-199b-5p	CLIP-seq
MIRT995229	hsa-miR-3187-5p	CLIP-seq
MIRT995230	hsa-miR-326	CLIP-seq
MIRT995231	hsa-miR-330-5p	CLIP-seq
MIRT995233	hsa-miR-378g	CLIP-seq
MIRT2229198	hsa-miR-4303	CLIP-seq
MIRT2229199	hsa-miR-4435	CLIP-seq
MIRT2229200	hsa-miR-4456	CLIP-seq
MIRT995235	hsa-miR-4486	CLIP-seq
MIRT2229201	hsa-miR-491-3p	CLIP-seq
MIRT2229202	hsa-miR-555	CLIP-seq
MIRT995238	hsa-miR-612	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence
GO:0001726	Component	Ruffle	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
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	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0031267	Function	Small GTPase binding	ISS
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0046847	Process	Filopodium assembly	IBA
GO:0046847	Process	Filopodium assembly	ISS
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
617554	16027	ENSG00000127084

Q5JSP0

Protein name

FYVE, RhoGEF and PH domain-containing protein 3 (Zinc finger FYVE domain-containing protein 5)

Protein function

Promotes the formation of filopodia. May activate 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 (By similarity). {ECO:00002

PDB

2COC

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00621	RhoGEF	161 → 339	RhoGEF domain	Domain
PF00169	PH	371 → 469	PH domain	Domain
PF01363	FYVE	527 → 587	FYVE zinc finger	Domain

Sequence

MESGRGSSTPPGPIAALGMPDTGPGSSSLGKLQALPVGPRAHCGDPVSLAAAGDGSPDIG
PTGELSGSLKIPNRDSGIDSPSSSVAGENFPCEEGLEAGPSPTVLGAHAEMALDSQVPKV
TPQEEADSDVGEEPDSENTPQKADKDAGLAQHSGPQKLLHIAQELLHTEETYVKRLHLLD
QVFCTRLTDAGIPPEVIMGIFSNISSIHRFHGQFLLPELKTRITEEWDTNPRLGDILQKL
APFLKMYGEYVKNFDRAVGLVSTWTQRSPLFKDVVHSIQKQEVCGNLTLQHHMLEPVQRV
PRYELLLKDYLKRLPQDAPDRKDAERSLELISTAANHSNAAIRKVEKMHKLLEVYEQLGG
EEDIVNPANELIKEGQIQKLSAKNGTPQDRHLFLFNSMILYCVPKLRLMGQKFSVREKMD
ISGLQVQDIVKPNTAHTFIITGRKRSLELQTRTEEEKKEWIQIIQATIEKHKQNSETFKA
FGGAFSQDEDPSLSPDMPITSTSPVEPVVTTEGSSGAAGLEPRKLSSKTRRDKEKQSCKS
CGETFNSITKRRHHCKLCGAVICGKCSEFKAENSRQSRVCRDCFLTQPVAPESTEKTPTA
DPQPSLLCGPLRLSESGETWSEVWAAIPMSDPQVLHLQGGSQDGRLPRTIPLPSCKLSVP
DPEERLDSGHVWKLQWAKQSWYLSASSAELQQQWLETLSTAAHGDTAQDSPGALQLQVPM
GAAAP

Sequence length

725

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 Unknown Diseases (1)

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.
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

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	10721717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25249324, 31645624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31645624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31898160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34251294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31645624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31645624	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25249324, 31645624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	26306008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	26306008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	15972966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	15972966	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FGD3 (FYVE, RhoGEF and PH domain containing 3)