Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57102
Gene name Gene Name - the full gene name approved by the HGNC.
FERRY endosomal RAB5 effector complex subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FERRY3
Synonyms (NCBI Gene) Gene synonyms aliases
C12orf4, Fy-3, MRT66
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.32
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs730882197 ->GTTT Likely-pathogenic, pathogenic Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs749969789 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1468772495 A>G Pathogenic Missense variant, intron variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026046 hsa-miR-196a-5p Sequencing 20371350
MIRT032146 hsa-let-7d-5p Sequencing 20371350
MIRT504798 hsa-miR-3125 PAR-CLIP 23446348
MIRT504797 hsa-miR-3916 PAR-CLIP 23446348
MIRT504796 hsa-miR-6859-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26496610, 32814053, 33961781, 37267906
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
GO:0005768 Component Endosome IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616082 1184 ENSG00000047621
Protein
UniProt ID Q9NQ89
Protein name Ferry endosomal RAB5 effector complex subunit 3 (Fy-3)
Protein function Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distr
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10154 DUF2362 41 546 Uncharacterised conserved protein (DUF2362) Family
Sequence
Sequence length 552
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)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 66 rs730882197, rs749969789 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
Diabetes Type 2 diabetes N/A N/A GWAS