Gene Gene information from NCBI Gene database.
Entrez ID 55785
Gene name FYVE, RhoGEF and PH domain containing 6
Gene symbol FGD6
Synonyms (NCBI Gene)
ZFYVE24
Chromosome 12
Chromosome location 12q22
miRNA miRNA information provided by mirtarbase database.
412
miRTarBase ID miRNA Experiments Reference
MIRT018984 hsa-miR-335-5p Microarray 18185580
MIRT027861 hsa-miR-98-5p Microarray 19088304
MIRT723061 hsa-miR-548u HITS-CLIP 19536157
MIRT723060 hsa-miR-7161-5p HITS-CLIP 19536157
MIRT723059 hsa-miR-8087 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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:0005515 Function Protein binding IPI 28514442, 33961781, 36931259
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613520 21740 ENSG00000180263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZV73
Protein name FYVE, RhoGEF and PH domain-containing protein 6 (Zinc finger FYVE domain-containing protein 24)
Protein function May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 875 1058 RhoGEF domain Domain
PF00169 PH 1090 1183 PH domain Domain
PF01363 FYVE 1217 1282 FYVE zinc finger Domain
PF00169 PH 1334 1428 PH domain Domain
Sequence
MTSAAEIKKPPVAPKPKFVVANNKPAPPPIAPKPDIVISSVPQSTKKMKPAIAPKPKVLK
TSPVREIGQSPSRKIMLNLEGHKQELAESTDNFNCKYEGNQSNDYISPMCSCSSECIHKL
GHRENLCVKQLVLEPLEMNENLENSKIDETLTIKTRSKCDLYGEKAKNQGGVVLKASVLE
EELKDALIHQMPPFISAQKHRPTDSPEMNGGCNSNGQFRIEFADLSPSPSSFEKVPDHHS
CHLQLPSDECEHFETCQDDSEKSNNCFQSSELEALENGKRSTLISSDGVSKKSEVKDLGP
LEIHLVPYTPKFPTPKPRKTRTARLLRQKCVDTPSESTEEPGNSDSSSSCLTENSLKINK
ISVLHQNVLCKQEQVDKMKLGNKSELNMESNSDAQDLVNSQKAMCNETTSFEKMAPSFDK
DSNLSSDSTTVDGSSMSLAVDEGTGFIRCTVSMSLPKQLKLTCNEHLQSGRNLGVSAPQM
QKESVIKEENSLRIVPKKPQRHSLPATGVLKKAASEELLEKSSYPSSEEKSSEKSLERNH
LQHLCAQNRGVSSSFDMPKRASEKPVWKLPHPILPFSGNPEFLKSVTVSSNSEPSTALTK
PRAKSLSAMDVEKCTKPCKDSTKKNSFKKLLSMKLSICFMKSDFQKFWSKSSQLGDTTTG
HLSSGEQKGIESDWQGLLVGEEKRSKPIKAYSTENYSLESQKKRKKSRGQTSAANGLRAE
SLDDQMLSRESSSQAPYKSVTSLCAPEYENIRHYEEIPEYENLPFIMAIRKTQELEWQNS
SSMEDADANVYEVEEPYEAPDGQLQLGPRHQHSSSGASQEEQNDLGLGDLPSDEEEIINS
SDEDDVSSESSKGEPDPLEDKQDEDNGMKSKVHHIAKEIMSSEKVFVDVLKLLHIDFRDA
VAHASRQLGKPVIEDRILNQILYYLPQLYELNRDLLKELEERMLHWTEQQRIADIFVKKG
PYLKMYSTYIKEFDKNIALLDEQCKKNPGFAAVVREFEMSPRCANLALKHYLLKPVQRIP
QYRLLLTDYLKNLIEDAGDYRDTQDALAVVIEVANHAN
DTMKQGDNFQKLMQIQYSLNGH
HEIVQPGRVFLKEGILMKLSRKVMQPRMFFLFNDALLYTTPVQSGMYKLNNMLSLAGMKV
RKPTQEAYQNELKIESVERSFILSASSATERDEWLEAISRAIE
EYAKKRITFCPSRSLDE
ADSENKEEVSPLGSKAPIWIPDTRATMCMICTSEFTLTWRRHHCRACGKIVCQACSSNKY
GLDYLKNQPARVCEHCFQELQK
LDHQHSPRIGSPGNHKSPSSALSSVLHSIPSGRKQKKI
PAALKEVSANTEDSSMSGYLYRSKGNKKPWKHFWFVIKNKVLYTYAASEDVAALESQPLL
GFTVIQVKDENSESKVFQLLHKNMLFYVFKAEDAHSAQKWIEAFQEGT
IL
Sequence length 1430
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age related macular degeneration Age-related macular degeneration BEFREE 25629512
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease GWASCAT_DG 29212778
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease Pubtator 34447459 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometriosis Endometriosis GWASDB_DG 23104006
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration Exudative Macular Degeneration GWASCAT_DG 25629512
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
exudative macular degeneration Exudative macular degeneration GWASCAT_DG 25629512
★☆☆☆☆
Found in Text Mining only
exudative macular degeneration Exudative macular degeneration CTD_human_DG 27089177
★☆☆☆☆
Found in Text Mining only
Macular Degeneration Macular degeneration Pubtator 25629512 Associate
★☆☆☆☆
Found in Text Mining only
Malignant mesothelioma Malignant Mesothelioma CTD_human_DG 25756049
★☆☆☆☆
Found in Text Mining only