TMEM163 Gene - Transmembrane Protein 163
Genetic, Functional, and Clinical Insights
Gene Information Card
| Symbol | TMEM163 |
|---|---|
| Full Name | Transmembrane Protein 163 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q21.2 |
| NCBI Gene ID | 51515 ncbi.nlm.nih.gov/gene/51515 |
| Ensembl ID | ENSG00000169714 |
| UniProt ID | Q8TC26 |
| OMIM ID | 618978 |
| HGNC ID | 25270 |
| Aliases | C2orf37, MGC29643 |
Description
TMEM163 encodes a transmembrane protein with multiple predicted membrane-spanning domains. It is expressed in various tissues, with notable levels in the brain and kidney. The protein is implicated in cellular processes such as vesicle trafficking and ion transport, though its precise function remains under investigation. TMEM163 has been associated with neurological and metabolic disorders, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | TMEM163 variants may affect dopamine metabolism or mitochondrial function, contributing to neurodegeneration. | ClinVar, literature |
| Type 2 diabetes | Expression in pancreatic beta cells suggests a role in insulin secretion; variants may impair glucose homeostasis. | ClinVar, literature |
| Intellectual disability | Rare mutations in TMEM163 have been reported in patients with neurodevelopmental phenotypes. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 24.5 | Medium |
| Kidney | 18.2 | Medium |
| Liver | 8.7 | Low |
| Heart | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 32.1 | High expression; used in neuronal studies |
| HEK293 (embryonic kidney) | 15.4 | Moderate expression; common for transfection |
| HeLa (cervical carcinoma) | 9.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61733189 | Missense (p.Arg215His) | 0.5% (global) | May alter protein stability; associated with Parkinson's risk in some populations |
| rs1491942 | Intronic | 12% | Potential regulatory effect; linked to type 2 diabetes in GWAS |
| c.458C>T (p.Ser153Leu) | Missense | Rare | Reported in intellectual disability; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare; may lead to reduced protein expression or impaired trafficking, potentially contributing to neurodevelopmental phenotypes.
Gain of Function (GOF)
No clear gain-of-function mutations have been characterized; overexpression in cell lines suggests possible oncogenic effects in some contexts.
Dominant Negative (DN)
Not well established; some missense variants may exert dominant-negative effects by disrupting protein-protein interactions.
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • protein binding |
| • zinc ion binding | • vesicle-mediated transport |
| • ion transport |
Pathways
• Vesicle trafficking
• Metal ion homeostasis
• Neurotransmitter release
Protein Summary
TMEM163 is a 301-amino acid protein with four predicted transmembrane helices. It localizes to intracellular membranes, including endosomes and synaptic vesicles. The protein contains a zinc-binding domain and may function as a zinc transporter or modulator. It interacts with other membrane proteins and is involved in vesicle fusion and cargo release. Structural studies suggest a role in pH regulation within organelles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM163 Knockout HEK293 Cell Line | EDJ-KQ9732 | Human | 81615 | Details Get a Quote |
| TMEM163 Knockout HeLa Cell Line | EDJ-KQ18254 | Human | 81615 | Details Get a Quote |
| TMEM163 Knockout A-549 Cell Line | EDJ-KQ65906 | Human | 81615 | Details Get a Quote |
| TMEM163 Knockout HCT 116 Cell Line | EDJ-KQ74332 | Human | 81615 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
