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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMEM47
transmembrane protein 47
Chromosome X · Xp21.1
NCBI Gene: 83604Ensembl: ENSG00000147027.5HGNC: HGNC:18515UniProt: Q9BQJ4
22PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingcell-cell junctioncell-cell adhesionneurodegenerative diseaseGlobal developmental delayHypoplasia of the corpus callosumattention deficit hyperactivity disorder
✦AI Summary

TMEM47 is a transmembrane protein with diverse roles in cancer progression and cellular processes. In hepatocellular carcinoma (HCC), TMEM47 expression is significantly upregulated in chemoresistant tumors, with higher levels observed in patients who do not respond to cisplatin-based transarterial chemoembolization treatment 1. TMEM47 overexpression promotes cisplatin resistance in HCC cells, while its targeted inhibition enhances cisplatin sensitivity by promoting caspase-mediated apoptosis and suppressing drug efflux mechanisms 1. The protein shows tissue-specific expression patterns, being specifically overexpressed in brain metastatic breast cancer cells alongside other neuronal transmembrane proteins 2. TMEM47 serves as a molecular marker in multiple cancer contexts: it is part of a cancer-associated fibroblast poor-prognosis gene signature in CMS4 colorectal cancer 3, functions as a rhabdomyosarcoma marker for detecting disseminated disease 4, and contributes to thyroid cancer recurrence prediction models 5. Additionally, TMEM47 has been identified as a potential biomarker for mesenchymal stromal cell characterization, helping distinguish MSCs from fibroblasts 6. In multiple sclerosis, TMEM47 is a target gene of hsa-mir-4423, suggesting involvement in immune-mediated neurological processes 7.

Sources cited
1
TMEM47 upregulation in chemoresistant HCC and its role in cisplatin resistance mechanisms
PMID: 32945373
2
Specific overexpression in brain metastatic breast cancer cells
PMID: 25926557
3
Component of cancer-associated fibroblast poor-prognosis gene signature in CMS4 colorectal cancer
PMID: 39755821
4
Function as a rhabdomyosarcoma marker for detecting disseminated disease
PMID: 34285060
5
Role in thyroid cancer recurrence prediction models
PMID: 32793117
6
Potential biomarker for mesenchymal stromal cell characterization
PMID: 34493362
7
Target gene of hsa-mir-4423 in multiple sclerosis context
PMID: 35561450
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
Cerebellar atrophyOpen Targets
0.26Weak
Dandy-Walker syndromeOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
Hypoplasia of the corpus callosumOpen Targets
0.26Weak
HypotoniaOpen Targets
0.26Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
Parkinson diseaseOpen Targets
0.02Suggestive
chromophobe renal cell carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
alcohol dependenceOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
lung carcinomaOpen Targets
0.01Suggestive
kidney oncocytomaOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)Likely pathogenic
6 conditions
☆☆☆☆2016→ Residue 12
View on ClinVar ↗
Related Genes
LPPShared pathway100%IGDCC3Shared pathway100%TRIM29Shared pathway100%FBLIM1Shared pathway100%VEZTShared pathway100%VSIG10L2Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
50%
Lung
29%
Ovary
28%
Liver
26%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TMEM47LPPIGDCC3TRIM29FBLIM1VEZTVSIG10L2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BQJ4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.24 [0.11–0.63]
RankingsWhere TMEM47 stands among ~20K protein-coding genes
  • #13,783of 20,598
    Most Researched22
  • #5,354of 5,498
    Most Pathogenic Variants1
  • #4,399of 17,882
    Most Constrained (LOEUF)0.63 · top quartile
Genes detectedTMEM47
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Clinical significance and functional role of transmembrane protein 47 (TMEM47) in chemoresistance of hepatocellular carcinoma.
PMID: 32945373
Int J Oncol · 2020
1.00
2
Prognostic implications and therapeutic opportunities related to CAF subtypes in CMS4 colorectal cancer: insights from single-cell and bulk transcriptomics.
PMID: 39755821
Apoptosis · 2025
0.90
3
Implication of genetic variants in primary microRNA processing sites in the risk of multiple sclerosis.
PMID: 35561450
EBioMedicine · 2022
0.80
4
Organ-specific adaptive signaling pathway activation in metastatic breast cancer cells.
PMID: 25926557
Oncotarget · 2015
0.70
5
Improving Risk Stratification for Pediatric Patients with Rhabdomyosarcoma by Molecular Detection of Disseminated Disease.
PMID: 34285060
Clin Cancer Res · 2021
0.60