FGD5 (FYVE, RhoGEF and PH domain containing 5)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152273
Gene name Gene Name - the full gene name approved by the HGNC.
FYVE, RhoGEF and PH domain containing 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGD5
Synonyms (NCBI Gene) Gene synonyms aliases
ZFYVE23
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(33)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614788 19117 ENSG00000154783
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes mellitus or coronary artery disease (pleiotropy), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy) N/A N/A GWAS
Hypertension High blood pressure / hypertension, Hypertension (PheCode 401), Essential hypertension (PheCode 401.1), Hypertension, Essential hypertension (time to event) N/A N/A GWAS
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25151356, 33880593
Carcinogenesis Associate 35845947
Carcinoma Hepatocellular Associate 34519634, 34783233, 36470669
Carcinoma Non Small Cell Lung Associate 22491060, 31919528, 33550920
Carcinoma Renal Cell Associate 24977159, 32964964
Carcinoma Squamous Cell Associate 22491060
Chronic Periodontitis Associate 34926693
Colorectal Neoplasms Stimulate 31919528
Colorectal Neoplasms Associate 35845947
Coxa Magna Associate 35190765