TMEM208: Transmembrane Protein 208
A conserved endoplasmic reticulum-resident protein involved in ER stress response and protein translocation
Gene Information Card
| Symbol | TMEM208 |
|---|---|
| Full Name | Transmembrane Protein 208 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 29100 ncbi.nlm.nih.gov/gene/29100 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9BTX3 |
| OMIM ID | 617848 |
| HGNC ID | 25024 |
| Aliases | HSPC171, SHR3, ER membrane protein complex subunit 3 |
Description
TMEM208 encodes a conserved transmembrane protein localized to the endoplasmic reticulum (ER). It is a component of the ER membrane protein complex (EMC) and is involved in ER stress response, protein translocation, and quality control. The gene is ubiquitously expressed and has been implicated in cellular homeostasis and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may affect ER stress response and tumor progression | COSMIC; TCGA |
| Neurodegenerative disorders | Potential role in ER stress-mediated neuronal cell death | Inferred from function; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 11.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 16.0 | Medium-high expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; rare variant |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may disrupt ER localization or EMC complex assembly.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Endoplasmic reticulum membrane | • Protein transport |
| • ER stress response | • Integral component of membrane |
Pathways
• ER protein processing
• Unfolded protein response (UPR)
Protein Summary
TMEM208 is a 208-amino acid transmembrane protein with a single transmembrane domain. It is a subunit of the ER membrane protein complex (EMC), which facilitates the insertion of tail-anchored proteins into the ER membrane. The protein is conserved across eukaryotes and plays a role in maintaining ER homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM208 Knockout HEK293 Cell Line | EDJ-KQ1530 | Human | 29100 | Details Get a Quote |
| TMEM208 Knockout A-549 Cell Line | EDJ-KQ22487 | Human | 29100 | Details Get a Quote |
| TMEM208 Knockout HCT 116 Cell Line | EDJ-KQ22489 | Human | 29100 | Details Get a Quote |
| TMEM208 Knockout HeLa Cell Line | EDJ-KQ22490 | Human | 29100 | Details Get a Quote |
