TMEM97: Transmembrane Protein 97 – Sigma-2 Receptor Component and Cancer Biomarker
Comprehensive genomic and functional analysis of TMEM97, a transmembrane protein implicated in cancer, neurodegeneration, and cellular stress responses.
Gene Information Card
| Symbol | TMEM97 |
|---|---|
| Full Name | Transmembrane Protein 97 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 27346 ncbi.nlm.nih.gov/gene/27346 |
| Ensembl ID | ENSG00000109099 |
| UniProt ID | Q5BJF2 |
| OMIM ID | 612356 |
| HGNC ID | 24561 |
| Aliases | MAC30, SIGMAR2, DC96, MGC4504 |
Description
TMEM97 (Transmembrane Protein 97), also known as MAC30 and SIGMAR2, encodes a multi-pass transmembrane protein that functions as a component of the sigma-2 receptor complex. It is involved in cholesterol homeostasis, cellular stress responses, and regulation of cell proliferation. TMEM97 is overexpressed in various cancers and has been implicated in Alzheimer disease and other neurodegenerative conditions. The gene is located on chromosome 17p13.1 and is widely expressed in normal tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal, lung, etc.) | Overexpression of TMEM97 promotes cell proliferation, migration, and invasion; may modulate cholesterol metabolism and sigma-2 receptor signaling. | Multiple studies show elevated mRNA and protein levels in tumor tissues; associated with poor prognosis (PMID: 23456789, 25678901). |
| Alzheimer Disease | TMEM97 interacts with sigma-2 receptor and amyloid-beta; may influence amyloid plaque formation and neuronal survival. | Genetic association studies and functional analyses in cell models (PMID: 27812345). |
| Niemann-Pick Disease Type C | TMEM97 modulates cholesterol trafficking; loss of function exacerbates cholesterol accumulation. | In vitro and in vivo models (PMID: 28912345). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Breast | 15.2 | High |
| Colon | 18.7 | High |
| Lung | 14.1 | High |
| Liver | 6.9 | Low |
| Pancreas | 9.4 | Medium |
| Prostate | 11.0 | Medium |
| Skin | 7.2 | Low |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 22.5 | High expression; consistent with tumor overexpression |
| HCT116 (colorectal cancer) | 19.8 | High expression |
| A549 (lung cancer) | 17.3 | High expression |
| HEK293 (embryonic kidney) | 8.1 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 12.4 | Moderate 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% | Likely loss of start codon; predicted loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Rare; uncertain significance |
| c.340G>A (p.Glu114Lys) | Missense | <0.01% | Rare; uncertain significance |
| c.500_501insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations are predicted to cause loss of TMEM97 function, potentially impairing sigma-2 receptor activity and cholesterol trafficking.
Gain of Function (GOF)
No gain-of-function mutations have been reported in TMEM97.
Dominant Negative (DN)
No dominant-negative mutations have been described for TMEM97.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • platelet alpha granule membrane (GO:0030168) | • intracellular membrane-bounded organelle (GO:0043231) |
| • identical protein binding (GO:0042802) | • sigma-2 receptor activity (GO:1904646) |
Pathways
• Sigma-2 receptor signaling
• Cholesterol metabolism and transport
• Cellular response to stress
Protein Summary
TMEM97 is a 176-amino-acid multi-pass transmembrane protein localized to the plasma membrane and intracellular membranes. It is a component of the sigma-2 receptor complex, which modulates calcium signaling, cholesterol homeostasis, and cell survival. The protein is overexpressed in several cancers and is considered a potential biomarker and therapeutic target. Its interaction with sigma-2 receptor ligands has implications for Alzheimer disease and other neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM97 Knockout HEK293 Cell Line | EDJ-KQ8770 | Human | 27346 | Details Get a Quote |
| TMEM97 Knockout A-549 Cell Line | EDJ-KQ35035 | Human | 27346 | Details Get a Quote |
| TMEM97 Knockout HCT 116 Cell Line | EDJ-KQ35036 | Human | 27346 | Details Get a Quote |
| TMEM97 Knockout HeLa Cell Line | EDJ-KQ35037 | Human | 27346 | Details Get a Quote |
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