CMTM6
CKLF-like MARVEL transmembrane domain-containing protein 6
Gene Information Card
| Symbol | CMTM6 |
|---|---|
| Full Name | CKLF-like MARVEL transmembrane domain-containing protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.3 |
| NCBI Gene ID | 54918 ncbi.nlm.nih.gov/gene/54918 |
| Ensembl ID | ENSG00000191355 |
| UniProt ID | Q9NX76 |
| OMIM ID | 618539 |
| HGNC ID | 19177 |
| Aliases | CKLFSF6, MGC129692, MGC129693 |
Description
CMTM6 encodes a member of the CKLF-like MARVEL transmembrane domain-containing protein family. The protein is a master regulator of PD-L1 (CD274) cell surface expression by preventing its lysosomal degradation, thereby modulating immune checkpoint signaling. CMTM6 is broadly expressed in immune cells and various tissues and is implicated in cancer immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | CMTM6 stabilizes PD-L1 on the cell surface, enhancing immune evasion via the PD-1/PD-L1 axis. | PMID: 28340338, PMID: 28340339 |
| Hepatocellular carcinoma | Overexpression of CMTM6 correlates with increased PD-L1 levels and poor prognosis. | PMID: 31570831 |
| Lung adenocarcinoma | CMTM6 expression is associated with PD-L1 expression and tumor-infiltrating lymphocytes. | PMID: 31570831 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 15.3 | Medium |
| Lymph node | 14.8 | Medium |
| Bone marrow | 10.2 | Medium |
| Testis | 8.9 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 11.5 | Medium expression |
| K562 (leukemia) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 7.3 | 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% | Likely loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 (plasma membrane) | • GO:0016021 (integral component of membrane) |
| • GO:0042802 (identical protein binding) | • GO:0031625 (ubiquitin protein ligase binding) |
| • GO:1901028 (regulation of PD-L1 expression) |
Pathways
• PD-1/PD-L1 immune checkpoint pathway
• Endosomal recycling pathway
Protein Summary
CMTM6 is a 184-amino acid transmembrane protein localized to the plasma membrane and recycling endosomes. It binds to PD-L1 and prevents its ubiquitination and lysosomal degradation, thereby maintaining PD-L1 surface levels. This function is critical for T-cell inhibition in the tumor microenvironment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CMTM6 Knockout HEK293 Cell Line | EDC07686 | Human | 54918 | Details Get a Quote |
| CMTM6 Knockout A-549 Cell Line | EDJ-KQ25060 | Human | 54918 | Details Get a Quote |
| CMTM6 Knockout HCT 116 Cell Line | EDJ-KQ25061 | Human | 54918 | Details Get a Quote |
| CMTM6 Knockout HeLa Cell Line | EDJ-KQ23673 | Human | 54918 | Details Get a Quote |
| cmtm6 Knockout A-375 Cell Line | EDC07544 | Human | 54918 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
