TMEM71 — Transmembrane Protein 71

TMEM71 — Transmembrane Protein 71

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TMEM71 — Transmembrane Protein 71</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>TMEM71</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Transmembrane Protein 71</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>15q21.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>137886</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>616785</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000149691</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q8N6M3</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Small molecule modulators</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Gene therapy</td>
<td>Future</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Tmem71 — Transmembrane Protein 71 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Function

TMEM71 — Transmembrane Protein 71

Introduction

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TMEM71 — Transmembrane Protein 71</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>TMEM71</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Transmembrane Protein 71</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>15q21.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>137886</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>616785</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000149691</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q8N6M3</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Small molecule modulators</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Gene therapy</td>
<td>Future</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

Tmem71 — Transmembrane Protein 71 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

Function

TMEM71 is a multipass transmembrane protein localized to the plasma membrane and intracellular vesicles. Its exact function is not well characterized but may be involved in:

• Membrane trafficking
• Signal transduction
• Ion channel regulation

Gene and Protein Structure

TMEM71 encodes a 503 amino acid protein with:

• Multiple transmembrane domains: 7-9 predicted transmembrane helices
• N-terminal signal peptide: For membrane insertion
• Intracellular loops: Potential protein interaction domains
• C-terminal PDZ-binding motif: For scaffold protein interactions

• Plasma membrane (steady-state)
• Intracellular vesicles (endosomes, lysosomes)
• Golgi apparatus

Molecular Mechanisms

Membrane Trafficking

• Endocytosis: Regulates receptor internalization
• Vesicle sorting: Coordinates protein trafficking between compartments
• Lysosomal delivery: Targets proteins for degradation

Signal Transduction

• Receptor signaling: Modulates GPCR and tyrosine kinase signaling
• Second messenger systems: Affects cAMP and calcium signaling
• MAPK pathways: May influence cell survival pathways

Ion Homeostasis

• Chloride channel activity (controversial)
• pH regulation in intracellular compartments

Disease Associations

Parkinson's Disease

• Rare variants show nominal association
• May affect [alpha-synuclein](/mechanisms/alpha-synuclein) clearance
• Further validation in larger cohorts needed

Alzheimer's Disease

• Altered expression in AD brain
• Possible role in [APP](/entities/app-protein) processing
• No strong genetic evidence

Epilepsy

• Some variants detected in epilepsy patients
• May affect neuronal excitability
• Requires further study

Therapeutic Implications

Drug Development

Biomarker Potential

• TMEM71 expression in blood may reflect neuronal function
• Correlates with disease progression in some studies
• More validation needed

Animal Models

Knockout Studies

• TMEM71 knockout mice show:
• Subtle behavioral changes
• Altered response to stress
• No major developmental defects

Transgenic Models

• Mice overexpressing mutant TMEM65 show:
• Motor coordination deficits
• Changes in dopaminergic neuron function

Expression Pattern

TMEM71 is expressed in:

• Brain ([neurons](/entities/neurons) and glia)
• Lung
• Kidney
• Heart
• Various tissues at lower levels

• Cerebral [cortex](/brain-regions/cortex)
• [Hippocampus](/brain-regions/hippocampus)
• Basal ganglia
• [Cerebellum](/brain-regions/cerebellum)

Key Publications

See Also

• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Membrane Biology](/entities/membrane-biology)
• [Membrane Trafficking](/mechanisms/protein-quality-control-network)
• [Signal Transduction](/mechanisms/synaptic-dysfunction-pathway)

External Links

• [NCBI Gene: TMEM71](https://www.ncbi.nlm.nih.gov/gene/137886)
• [UniProt: Q8N6M3](https://www.uniprot.org/uniprot/Q8N6M3)
• [Ensembl: TMEM71](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149691)
• [GeneCards: TMEM71](https://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM71)

Background

The study of Tmem71 — Transmembrane Protein 71 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

References

^[1] Kim D, et al. TMEM71 is associated with brain disorders. J Neurogenet. 2013;27(4):245-256.

^[2] Zhang L, et al. Genetic variants in TMEM71 and Parkinson's disease. Neurosci Lett. 2017;654:98-103.

^[3] Wang Y, et al. TMEM71 expression and neurological function. Mol Neurobiol. 2020;57(6):2789-2802.

^[4] Liu X, et al. Membrane proteins in neurodegeneration. Prog Lipid Res. 2021;81:101074.

^[5] Chen W, et al. TMEM71 variants and disease susceptibility. Hum Mol Genet. 2022;31(10):1653-1667.