Gene Gene information from NCBI Gene database.
Entrez ID 221472
Gene name FYVE, RhoGEF and PH domain containing 2
Gene symbol FGD2
Synonyms (NCBI Gene)
ZFYVE4
Chromosome 6
Chromosome location 6p21.2
Summary The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocyt
miRNA miRNA information provided by mirtarbase database.
153
miRTarBase ID miRNA Experiments Reference
MIRT017089 hsa-miR-335-5p Microarray 18185580
MIRT995192 hsa-miR-1283 CLIP-seq
MIRT995193 hsa-miR-142-3p CLIP-seq
MIRT995194 hsa-miR-2113 CLIP-seq
MIRT995195 hsa-miR-29a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605091 3664 ENSG00000146192
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6J4
Protein name FYVE, RhoGEF and PH domain-containing protein 2 (Zinc finger FYVE domain-containing protein 4)
Protein function Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Activates JNK1 via CDC42 but not RAC1. Binds to phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-trisphosphate, pho
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 106 288 RhoGEF domain Domain
PF00169 PH 320 418 PH domain Domain
PF01363 FYVE 453 518 FYVE zinc finger Domain
PF00169 PH 528 641 PH domain Domain
Sequence
Sequence length 655
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
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
Corpus Luteum Cyst Corpus Luteum Cyst CTD_human_DG 21239663
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Hirschsprung Disease BEFREE 28399120
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 21324547
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 30397228 Associate
★☆☆☆☆
Found in Text Mining only
Ovarian Cysts Ovarian Cysts CTD_human_DG 21239663
★★☆☆☆
Found in Text Mining + Unknown/Other Associations