Gene Gene information from NCBI Gene database.
Entrez ID 57102
Gene name FERRY endosomal RAB5 effector complex subunit 3
Gene symbol FERRY3
Synonyms (NCBI Gene)
C12orf4Fy-3MRT66
Chromosome 12
Chromosome location 12p13.32
SNPs SNP information provided by dbSNP.
3
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.
422
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616082 1184 ENSG00000047621
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Attention deficit hyperactivity disorder Likely pathogenic; Pathogenic rs730882197 RCV000162098
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C12orf4-related disorder Likely pathogenic rs756919162 RCV003404294
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia Likely pathogenic; Pathogenic rs730882197 RCV000162098
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic; Pathogenic rs730882197 RCV000162098
★★★★☆
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
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 66 Disgenet, HPO
Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign; Likely benign 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
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★☆☆☆☆
Found in Text Mining only
Angina Unstable Angina pectoris Pubtator 31334606 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 31106069
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 31334606 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Central visual impairment Central Visual Impairment HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only