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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CMTM2
CKLF like MARVEL transmembrane domain containing 2
Chromosome 16 · 16q21
NCBI Gene: 146225Ensembl: ENSG00000140932.10HGNC: HGNC:19173UniProt: Q8TAZ6
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembranemastodyniafacial morphologyhepatocellular carcinomagastric cancer
✦AI Summary

CMTM2 (CKLF like MARVEL transmembrane domain containing 2) is a transmembrane protein with diverse cellular functions across multiple organ systems. In male reproduction, CMTM2 is specifically expressed in testicular germ cells and sperm, where it localizes to the sperm middle piece and is positively correlated with sperm progressive motility 1. Reduced CMTM2 levels are observed in sperm from patients with asthenozoospermia and teratozoospermia, suggesting a critical role in sperm quality and function 1. In immune regulation, CMTM2 acts as a negative regulator of HIV-1 transcription by targeting AP-1 and CREB transcription factors 2. The protein functions as a tumor suppressor in hepatocellular carcinoma (HCC), where downregulation promotes epithelial-mesenchymal transition, cell proliferation, invasion, and metastasis [PMTM:32606785]. CMTM2 expression is significantly reduced in HCC tissues and correlates with tumor grade and poor prognosis 3. Additionally, serum CMTM2 levels serve as a potential biomarker for HBV-related disorders, with HBV infection suppressing CMTM2 expression through ubiquitin-proteasome degradation 4. CMTM2 has also been identified as an immune infiltration-related biomarker in Alzheimer's disease 5.

Sources cited
1
CMTM2 is specifically expressed in testicular germ cells and sperm middle piece, correlates with sperm motility, and is reduced in asthenozoospermia
PMID: 40167928
2
CMTM2 negatively regulates HIV-1 transcription by targeting AP-1 and CREB transcription factors
PMID: 21034562
3
Downregulated CMTM2 promotes epithelial-mesenchymal transition and increases cell proliferation and invasion in hepatocellular carcinoma
PMID: 32606785
4
CMTM2 is downregulated in HCC tissues, correlates with tumor grade and poor prognosis, and acts as an independent protective factor
PMID: 31990600
5
Serum CMTM2 serves as biomarker for HBV-related disorders, with HBV suppressing CMTM2 through ubiquitin-proteasome degradation
PMID: 33101541
6
CMTM2 identified as immune infiltration-related biomarker in Alzheimer's disease
PMID: 37545529
Disease Associationsⓘ20
mastodyniaOpen Targets
0.29Weak
facial morphologyOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.06Suggestive
gonorrheaOpen Targets
0.05Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
chronic hepatitis B virus infectionOpen Targets
0.03Suggestive
varicoceleOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Carcinoma, Lewis LungOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CMTM8Protein interaction97%CMTM4Protein interaction97%CKLFProtein interaction76%CMTM6Protein interaction76%CMTM7Protein interaction76%CMTM5Protein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
31%
Liver
8%
Brain
3%
Ovary
3%
Heart
0%
Gene Interaction Network
Click a node to explore
CMTM2CMTM8CMTM4CKLFCMTM6CMTM7CMTM5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TAZ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.55–1.31]
RankingsWhere CMTM2 stands among ~20K protein-coding genes
  • #13,871of 20,598
    Most Researched21
  • #13,779of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedCMTM2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression Patterns and Functional Implications of CMTM2 in Human Testis and Sperm.
PMID: 40167928
Reprod Sci · 2025
1.00
2
[Expression and localization of transmembrane protein CMTM2 in human testis and sperm].
PMID: 28816268
Beijing Da Xue Xue Bao Yi Xue Ban · 2017
0.90
3
Intracellular CMTM2 negatively regulates human immunodeficiency virus type-1 transcription through targeting the transcription factors AP-1 and CREB.
PMID: 21034562
Chin Med J (Engl) · 2010
0.80
4
Down-Regulated CMTM2 Promotes Epithelial-Mesenchymal Transition in Hepatocellular Carcinoma.
PMID: 32606785
Onco Targets Ther · 2020
0.70
5
Development of a novel immune infiltration-related diagnostic model for Alzheimer's disease using bioinformatic strategies.
PMID: 37545529
Front Immunol · 2023
0.60