FERRY3

Chr 12

FERRY endosomal RAB5 effector complex subunit 3

Also known as: C12orf4, Fy-3, MRT66

NCBI Gene: 57102 ENSG00000047621 UniProt: Q9NQ89

The protein is a component of the FERRY complex that mediates endosomal transport of specific mRNAs and ribosomes by interacting directly with mRNAs and RAB5A, and also functions in mast cell degranulation. Mutations cause autosomal recessive intellectual developmental disorder. This follows an autosomal recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Clinical Summary— FERRY3

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ClinVar Variants

20 unique Pathogenic / Likely Pathogenic· 11 VUS of 52 total submissions

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Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6

Likely Pathogenic14

VUS11

Likely Benign10

Benign1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	6	0	0	0	6
Likely Pathogenic	13	1	0	0	14
VUS	2	9	0	0	11
Likely Benign	0	1	2	7	10
Benign	0	0	1	0	1
Total	21	11	3	7	42

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

55 pathogenic / likely-pathogenic (of 67) ClinVar copy-number / structural variants overlap FERRY3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →