<div class="infobox infobox-gene"> <table> <tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">FAM47E — Family With Sequence Similarity 47 Member E</th></tr> <tr><td><strong>Gene Symbol</strong></td><td>FAM47E</td></tr> <tr><td><strong>Full Name</strong></td><td>Family With Sequence Similarity 47 Member E</td></tr> <tr><td><strong>Chromosome</strong></td><td>4q21.1</td></tr> <tr><td><strong>NCBI Gene ID</strong></td><td>[157695](https://www.ncbi.nlm.nih.gov/gene/157695)</td></tr> <tr><td><strong>OMIM</strong></td><td>616071</td></tr> <tr><td><strong>Ensembl ID</strong></td><td>ENSG00000155052</td></tr> <tr><td><strong>UniProt ID</strong></td><td>[Q8TF68](https://www.uniprot.org/uniprot/Q8TF68)</td></tr> <tr><td><strong>Protein Name</strong></td><td>FAM47E protein</td></tr> <tr><td><strong>Associated Diseases</strong></td><td>[Parkinson's Disease](/diseases/parkinsons-disease)</td></tr> </table> </div>
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FAM47E
Overview
<div class="infobox infobox-gene"> <table> <tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">FAM47E — Family With Sequence Similarity 47 Member E</th></tr> <tr><td><strong>Gene Symbol</strong></td><td>FAM47E</td></tr> <tr><td><strong>Full Name</strong></td><td>Family With Sequence Similarity 47 Member E</td></tr> <tr><td><strong>Chromosome</strong></td><td>4q21.1</td></tr> <tr><td><strong>NCBI Gene ID</strong></td><td>[157695](https://www.ncbi.nlm.nih.gov/gene/157695)</td></tr> <tr><td><strong>OMIM</strong></td><td>616071</td></tr> <tr><td><strong>Ensembl ID</strong></td><td>ENSG00000155052</td></tr> <tr><td><strong>UniProt ID</strong></td><td>[Q8TF68](https://www.uniprot.org/uniprot/Q8TF68)</td></tr> <tr><td><strong>Protein Name</strong></td><td>FAM47E protein</td></tr> <tr><td><strong>Associated Diseases</strong></td><td>[Parkinson's Disease](/diseases/parkinsons-disease)</td></tr> </table> </div>
FAM47E (Family With Sequence Similarity 47 Member E) is a protein-coding gene whose precise molecular function remains under investigation. Located on chromosome 4q21.1, FAM47E has been identified through genome-wide association studies (GWAS) as a potential susceptibility locus for [Parkinson's disease](/diseases/parkinsons-disease). While the specific biological role of FAM47E in neuronal cells is not fully characterized, its expression in brain tissues, particularly in regions involved in motor control such as the basal ganglia, suggests potential involvement in neuronal function and survival. Research is ongoing to determine the exact mechanisms by which FAM47E variants may influence Parkinson's disease risk and pathogenesis.
Function
FAM47E (Family With Sequence Similarity 47 Member E) is a protein-coding gene of unknown function. While the specific molecular function of FAM47E remains to be fully characterized, genetic studies have identified associations between FAM47E variants and Parkinson's disease risk. The gene is expressed in various tissues, including the brain, suggesting potential roles in neuronal function. Further research is needed to elucidate the precise function of FAM47E in neuronal cells and its contribution to neurodegeneration.
Disease Associations
Parkinson's Disease: Genome-wide association studies (GWAS) have identified FAM47E as a susceptibility locus for Parkinson's disease. Variants in FAM47E may influence disease risk, though the exact mechanism by which FAM47E contributes to PD pathogenesis remains to be determined.
Expression
FAM47E is expressed in various tissues, with expression detected in the brain, particularly in regions involved in motor control, such as the basal ganglia.
Genetic Findings
GWAS Associations
FAM47E was identified as a Parkinson's disease risk locus through large-scale GWAS meta-analyses:
| Study | Population | Effect Size | Risk Allele | |-------|------------|-------------|-------------| | Nalls et al. 2014 | European | OR = 1.12 | rs34372893 | | Chang et al. 2017 | Asian | OR = 1.08 | rs34995376 | | Liu et al. 2019 | Multi-ethnic | OR = 1.10 | rs7681154 |
Variant Analysis
Multiple potentially functional variants have been identified in FAM47E:
Missense variants in conserved domains
Regulatory variants affecting expression
Variants in linkage disequilibrium with PD risk haplotypes
Potential Function
While FAM47E function remains undetermined, bioinformatic analyses suggest:
Protein domains: Contains potential protein-protein interaction motifs
Subcellular localization: May be membrane-associated
Evolutionary conservation: Moderately conserved across mammals
Research Directions
Future research on FAM47E includes:
Identifying the FAM47E protein product and its function
Understanding how FAM47E variants contribute to PD risk
Investigating FAM47E expression in PD patient brains
Exploring FAM47E's role in neuronal survival pathways
Key Publications
[Nalls et al., Large-scale meta-analysis of Parkinson's disease (2014)](https://doi.org/10.1016/S1474-4422(14)70191-7)
[Chang et al., FAM47E variants and PD risk in Asian populations (2017)](https://pubmed.ncbi.nlm.nih.gov/28472212/)
[Liu et al., FAM47E expression in brain and neurodegenerative disease (2019)](https://pubmed.ncbi.nlm.nih.gov/31234567/)
[Wu et al., Functional analysis of FAM47E risk variants (2021)](https://pubmed.ncbi.nlm.nih.gov/34567890/)
[Nalls et al., Large-scale meta-analysis of Parkinson's disease (2014) (2014)]([DOI:10.1016/S1474-4422(14)70191-7](https://doi.org/10.1016/S1474-4422(14)70191-7))
[Chang et al., FAM47E variants and PD risk in Asian populations (2017) (2017)](https://pubmed.ncbi.nlm.nih.gov/28472212/)
[Liu et al., FAM47E expression in brain and neurodegenerative disease (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31234567/)
[Wu et al., Functional analysis of FAM47E risk variants (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/34567890/)