Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
121512
Gene name Gene Name - the full gene name approved by the HGNC.
FYVE, RhoGEF and PH domain containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FGD4
Synonyms (NCBI Gene) Gene synonyms aliases
CMT4H, FRABP, ZFYVE6
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can fo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61753359 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, genic downstream transcript variant, coding sequence variant
rs63749871 T>C,G Pathogenic, uncertain-significance Missense variant, initiator codon variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs118203972 C>T Pathogenic Non coding transcript variant, stop gained, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs118203973 G>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
rs118203974 C>T Pathogenic Non coding transcript variant, stop gained, intron variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT709066 hsa-miR-7153-3p HITS-CLIP 19536157
MIRT709065 hsa-miR-490-5p HITS-CLIP 19536157
MIRT709064 hsa-miR-339-5p HITS-CLIP 19536157
MIRT709063 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT709062 hsa-miR-197-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle ISS
GO:0003779 Function Actin binding IEA
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611104 19125 ENSG00000139132
Protein
UniProt ID Q96M96
Protein name FYVE, RhoGEF and PH domain-containing protein 4 (Actin filament-binding protein frabin) (FGD1-related F-actin-binding protein) (Zinc finger FYVE domain-containing protein 6)
Protein function Activates 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. Activates MAPK8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00621 RhoGEF 210 391 RhoGEF domain Domain
PF00169 PH 423 521 PH domain Domain
PF01363 FYVE 554 620 FYVE zinc finger Domain
PF00169 PH 627 740 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis. {ECO:0000269|PubMed:17564959}.
Sequence
Sequence length 766
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease charcot-marie-tooth disease type 4h, charcot-marie-tooth disease type 4, Charcot-Marie-Tooth Disease rs63749871, rs751035912, rs1555223595, rs1393673267, rs886039361, rs1565869918, rs886041200, rs1565942358, rs778377449, rs1592387932, rs1060501904, rs201676628, rs118203972, rs1948089932, rs1950619177
View all (2 more)
N/A
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
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 23380069, 27736846
Charcot Marie Tooth Disease Associate 17564972, 19221294, 34169998
Charcot Marie Tooth Disease Type 4H Associate 19221294, 34148957, 38108359
Chemical and Drug Induced Liver Injury Associate 33399082
Esophageal Squamous Cell Carcinoma Associate 33709789
Foot Deformities Associate 21840889
Hereditary Sensory and Motor Neuropathy Associate 30558664
Leukopenia Associate 33709789
Nasopharyngeal Carcinoma Associate 22589722
Neoplasms Associate 30558664