FERRY3
Ferry3, a component of the FERRY complex involved in endosomal mRNA transport
Gene Information Card
| Symbol | FERRY3 |
|---|---|
| Full Name | ferry3, endosomal mRNA transport factor |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 112487 ncbi.nlm.nih.gov/gene/112487 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 620091 |
| HGNC ID | 25138 |
| Aliases | C12orf65, FLJ10305, MGC138290 |
Description
FERRY3 encodes a component of the FERRY complex, which facilitates the transport of mRNAs to endosomes. The protein is involved in post-transcriptional regulation and may play a role in cellular trafficking and localization of transcripts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 7 | Loss of FERRY3 function disrupts mitochondrial translation, leading to respiratory chain defects | OMIM #620091; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Heart | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Moderate expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | <0.01% | Loss of function; associated with combined oxidative phosphorylation deficiency 7 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in FERRY3 lead to loss of protein function, impairing mitochondrial translation and causing combined oxidative phosphorylation deficiency 7.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA transport | • endosome |
| • mitochondrial translation | • RNA binding |
Pathways
• FERRY complex-mediated endosomal mRNA transport
• Mitochondrial translation
Protein Summary
FERRY3 is a 244-amino acid protein that localizes to endosomes and is part of the FERRY complex. It binds RNA and facilitates the delivery of mRNAs to endosomes, influencing local translation and cellular distribution of transcripts. Defects in this protein are linked to mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FERRY3 Knockout HEK293 Cell Line | EDJ-KQ11938 | Human | 57102 | Details Get a Quote |
| FERRY3 Knockout A-549 Cell Line | EDJ-KQ41734 | Human | 57102 | Details Get a Quote |
| FERRY3 Knockout HCT 116 Cell Line | EDJ-KQ41736 | Human | 57102 | Details Get a Quote |
| FERRY3 Knockout HeLa Cell Line | EDJ-KQ41737 | Human | 57102 | Details Get a Quote |
