FGD5 (FYVE, RhoGEF and PH domain containing 5)

Gene

• Entrez ID: 152273
• Gene name: FYVE, RhoGEF and PH domain containing 5
• Gene symbol: FGD5
• Synonyms (NCBI Gene): ZFYVE23
• Chromosome: 3
• Chromosome location: 3p25.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT995392	hsa-miR-3161	CLIP-seq
MIRT995393	hsa-miR-4263	CLIP-seq
MIRT995394	hsa-miR-4799-5p	CLIP-seq
MIRT995395	hsa-miR-488	CLIP-seq
MIRT995396	hsa-miR-576-5p	CLIP-seq
MIRT995397	hsa-miR-596	CLIP-seq
MIRT1556349	hsa-miR-765	CLIP-seq
MIRT1995160	hsa-miR-3692	CLIP-seq
MIRT2229249	hsa-miR-106a	CLIP-seq
MIRT2229250	hsa-miR-106b	CLIP-seq
MIRT2229251	hsa-miR-17	CLIP-seq
MIRT2229252	hsa-miR-1972	CLIP-seq
MIRT2229253	hsa-miR-20a	CLIP-seq
MIRT2229254	hsa-miR-20b	CLIP-seq
MIRT2229255	hsa-miR-218	CLIP-seq
MIRT2229256	hsa-miR-3151	CLIP-seq
MIRT2229257	hsa-miR-3180	CLIP-seq
MIRT2229258	hsa-miR-3180-3p	CLIP-seq
MIRT2229259	hsa-miR-3196	CLIP-seq
MIRT2229260	hsa-miR-3609	CLIP-seq
MIRT2229261	hsa-miR-4327	CLIP-seq
MIRT2229262	hsa-miR-4509	CLIP-seq
MIRT2229263	hsa-miR-4650-5p	CLIP-seq
MIRT2229264	hsa-miR-4744	CLIP-seq
MIRT2229265	hsa-miR-4749-3p	CLIP-seq
MIRT2229266	hsa-miR-4796-3p	CLIP-seq
MIRT2229267	hsa-miR-519d	CLIP-seq
MIRT2229268	hsa-miR-548a-3p	CLIP-seq
MIRT2229269	hsa-miR-548ah	CLIP-seq
MIRT2229270	hsa-miR-548e	CLIP-seq
MIRT2229271	hsa-miR-548f	CLIP-seq
MIRT2229272	hsa-miR-636	CLIP-seq
MIRT2229273	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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:0005515	Function	Protein binding	IPI	23455924, 32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0016020	Component	Membrane	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0031267	Function	Small GTPase binding	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0046847	Process	Filopodium assembly	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 614788
• HGNC: 19117
• e!Ensembl: ENSG00000154783

Protein

• UniProt ID: Q6ZNL6
• Protein name: FYVE, RhoGEF and PH domain-containing protein 5 (Zinc finger FYVE domain-containing protein 23)
• Protein function: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network f
• PDB: 3MPX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	896 → 1082	RhoGEF domain	Domain
  PF00169	PH	1114 → 1207	PH domain	Domain
  PF01363	FYVE	1237 → 1302	FYVE zinc finger	Domain
  PF00169	PH	1365 → 1461	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in endothelial cells (at protein level). {ECO:0000269|PubMed:22328776}.
• Sequence:

  MFRGPKPPIAPKPRLTAPNEWRASVYLNDSLNKCSNGRLPCVDRGLDEGPRSIPKCSESE
  TDEDYIVVPRVPLREDEPKDEGSVGNKALVSPESSAEEEEEREEGGEACGLEGTGAGEDS
  VAPAAPGAGALSREGEEGTDLALEDEGEGCADEPGTLEQVSRSEEEEKLVQPHRECSLED
  SGPWAGEGVFQSDLLLPHIHGEDQEPPDTPGEAEEDDEEGCASTDPAGADEGSGPDRPTE
  DMGQDAEDTSEEPPEKEELAGVQEAETATDCPEVLEEGCEEATGVTGGEQVDLSEPPDHE
  KKTNQEVAAATLEDHAQDESAEESCQIVPFENDCMEDFVTSLTGSPYEFFPTESTSFCSE
  SCSPLSESAKGLESEQAPKLGLRAEENPMVGALCGQCGSLQGGAAEGPAAPDVVVVLEEE
  ALDDALANPYVMGVGLPGQAAPGEGGQAASDALGGYGSKEELNCEAEGGLVPADRKNTST
  RVRPHSGKVAGYVPETVPEETGPEAGSSAPGIGGAAEEVGKTLLSLEGKPLEASRALPAK
  PRAFTLYPRSFSVEGREIPVSVYQEPEGSGLDDHRIKRKEDNLSLSCVIGSSGSFSQRNH
  LPSSGTSTPSSMVDIPPPFDLACITKKPITKSSPSLLIESDSPDKYKKKKSSFKRFLALT
  FKKKTENKLHVDVNVSSSRSSSESSYHGPSRILEVDRRSLSNSPQLKSRTGKLRASESPS
  SLIFYRDGKRKGVPFSRTVSRVESFEDRSRPPFLPLPLTKPRSISFPSADTSDYENIPAM
  NSDYENIQIPPRRPARAGAFTKLFEDQSRALSTANENDGYVDMSSFNAFESKQQSADQDA
  ESAYTEPYKVCPISSAAPKEDLTSDEEQRSSEEEDSASRDPSVTHKVEGQSRALVIAQEL
  LSSEKAYVEMLQHLNLDFHGAVMRALDDMDHEGRDTLAREELRQGLSELPAIHDLHQGIL
  EELEERLSNWESQQKVADVFLAREQGFDHHATHILQFDRYLGLLSENCLHSPRLAAAVRE
  FEQSVQGGSQTAKHRLLRVVQRLFQYQVLLTDYLNNLCPDSAEYDNTQGALSLISKVTDR
  ANDSMEQGENLQKLVHIEHSVRGQGDLLQPGREFLKEGTLMKVTGKNRRPRHLFLMNDVL
  LYTYPQKDGKYRLKNTLAVANMKVSRPVMEKVPYALKIETSESCLMLSASSCAERDEWYG
  CLSRALPEDYKAQALAAFHHSVEIRERLGVSLGERPPTLVPVTHVMMCMNCGCDFSLTLR
  RHHCHACGKIVCRNCSRNKYPLKYLKDRMAKVCDGCFGELKKRGRAVPGLMRERPVSMSF
  PLSSPRFSGSAFSSVFQSINPSTFKKQKKVPSALTEVAASGEGSAISGYLSRCKRGKRHW
  KKLWFVIKGKVLYTYMASEDKVALESMPLLGFTIAPEKEEGSSEVGPIFHLYHKKTLFYS
  FKAEDTNSAQRWIEAMEDASVL

• Sequence length: 1462

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	29051140, 30052477		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28124285		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25151356, 33880593	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	35845947	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34519634, 34783233, 36470669	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24977159, 32964964	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	22491060	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	34926693	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31919528	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35845947	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29805765		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714974, 29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	34565088	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	38613802	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32037394, 36445031	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	31033190	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	30487518, 31217584		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33174051	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	30444862	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32964964	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35848483	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28124285, 30052477		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23478628, 28124285		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31698570, 33174051	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	33174051	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23478628, 28124285		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	33834880	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35761386	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37322627	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33794727, 37773521	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34821374	Stimulate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31144533	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37418994	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	26748901		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37955025	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31403267	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35848483	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	32037394	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23478628	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34692852	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34565088	Associate	★☆☆☆☆ Found in Text Mining only