CMTM8
CKLF-like MARVEL transmembrane domain-containing protein 8
Gene Information Card
| Symbol | CMTM8 |
|---|---|
| Full Name | CKLF-like MARVEL transmembrane domain containing 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 152189 ncbi.nlm.nih.gov/gene/152189 |
| Ensembl ID | ENSG00000170264 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 607891 |
| HGNC ID | 19177 |
| Aliases | CKLFSF8, CMTM8_v1, CMTM8_v2 |
Description
CMTM8 (CKLF-like MARVEL transmembrane domain containing 8) is a protein-coding gene belonging to the chemokine-like factor (CKLF) superfamily. The encoded protein contains a MARVEL (MAL and related proteins for vesicle trafficking and membrane link) domain, suggesting a role in membrane trafficking and vesicle transport. CMTM8 is involved in immune regulation, cell proliferation, and apoptosis. It is expressed in various tissues and has been implicated in cancer and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Downregulation of CMTM8 may promote tumor growth and metastasis through altered chemokine signaling | PMID: 25642768 |
| Gastric cancer | Reduced expression correlates with poor prognosis and increased cell migration | PMID: 27381357 |
| Colorectal cancer | CMTM8 expression is decreased, potentially affecting immune surveillance | PMID: 28708999 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney cells |
| HepG2 | 10.2 | Hepatocellular carcinoma cells |
| A549 | 7.8 | Lung adenocarcinoma cells |
| MCF7 | 4.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.341G>A (p.Arg114Gln) | Missense | 0.005% (gnomAD) | Potential loss of function predicted by SIFT |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg114Gln may reduce protein stability or disrupt MARVEL domain function.
Gain of Function (GOF)
No gain-of-function mutations reported in CMTM8.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • integral component of membrane (GO:0016021) |
| • signal transduction (GO:0007165) | • innate immune response (GO:0045087) |
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
Protein Summary
CMTM8 is a 223-amino acid protein with a MARVEL domain, localized to the cell membrane and intracellular vesicles. It is involved in chemokine-like signaling, immune modulation, and vesicle trafficking. The protein is widely expressed, with highest levels in testis and lung. Altered expression is observed in several cancers, suggesting a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMTM8 Knockout HEK293 Cell Line | EDJ-KQ11385 | Human | 152189 | Details Get a Quote |
| CMTM8 Knockout A-549 Cell Line | EDJ-KQ39589 | Human | 152189 | Details Get a Quote |
| CMTM8 Knockout HCT 116 Cell Line | EDJ-KQ39590 | Human | 152189 | Details Get a Quote |
| CMTM8 Knockout HeLa Cell Line | EDJ-KQ39591 | Human | 152189 | Details Get a Quote |
