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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMEM147
transmembrane protein 147
Chromosome 19 Β· 19q13.12
NCBI Gene: 10430Ensembl: ENSG00000105677.13HGNC: HGNC:30414UniProt: Q9BVK8
30PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
multi-pass translocon complexribosome bindingprotein localization to nuclear inner membranemulti-pass transmembrane protein insertion into ER membraneneurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomalydevelopmental disorder of mental healthSevere intellectual disabilityAbnormal facial shape
✦AI Summary

TMEM147 is a transmembrane protein with dual roles in membrane protein insertion and disease pathogenesis. As a component of the multi-pass translocon (MPT) complex, TMEM147 mediates insertion of multi-pass membrane proteins into the ER lipid bilayer by occluding the SEC61 complex lateral gate after initial transmembrane segment insertion 1. Beyond this structural function, TMEM147 regulates cholesterol homeostasis by physically interacting with key sterol reductases DHCR7 and lamin B receptor (LBR), controlling their localization and protein levels 2. TMEM147 demonstrates significant disease relevance across multiple cancer types. In hepatocellular carcinoma, TMEM147 promotes tumorigenesis by upregulating DHCR7 via STAT2, increasing extracellular 27-hydroxycholesterol (27HC) which suppresses ferroptosis and activates M2 macrophage polarization 3. High TMEM147 expression correlates with poor HCC prognosis and immune infiltration patterns 4. In tongue squamous cell carcinoma, calcium-mediated TMEM147 upregulation enhances radiotherapy sensitivity through autophagy and apoptosis 5. TMEM147 also participates in Warburg effect promotion in prostate and gastric cancers, and maintains cisplatin resistance in ovarian cancer through a feedback loop involving AURKA, DDX5, and let-7 microRNAs 6, 7, 8. Clinically, TMEM147 represents a potential therapeutic target and prognostic biomarker, particularly in hepatocellular carcinoma and chemotherapy-resistant cancers. The protein's role in both fundamental membrane biology and metabolic pathways supporting tumorigenesis makes it relevant to neurodevelopmental disorders and diverse malignancies.

Sources cited
1
TMEM147 is a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins and occludes the SEC61 complex lateral gate
PMID: 36261522
2
TMEM147 physically interacts with LBR and DHCR7, regulates their localization and protein levels, and affects cellular cholesterol homeostasis
PMID: 32694168
3
TMEM147 promotes HCC progression by upregulating DHCR7, increasing 27HC, suppressing ferroptosis, and promoting M2 macrophage polarization
PMID: 37891677
4
High TMEM147 expression correlates with poor HCC prognosis, advanced tumor stage, and immune cell infiltration
PMID: 37305689
5
Calcium-mediated TMEM147 upregulation enhances radiotherapy sensitivity in tongue squamous cell carcinoma through autophagy and apoptosis
PMID: 39614244
6
TMEM147-AS1 lncRNA promotes prostatic carcinoma progression by regulating the miR-133b/ZNF587 axis and the Warburg effect
PMID: 36181243
7
TMEM147 is identified as a glycolysis-related hub gene with diagnostic potential in gastric cancer
PMID: 40865843
8
TMEM147-AS1 participates in an AURKA/DDX5/let-7 feedback loop maintaining cisplatin resistance in epithelial ovarian cancer through lipophagy
PMID: 37217070
Disease Associationsβ“˜21
neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomalyOpen Targets
0.76Strong
developmental disorder of mental healthOpen Targets
0.37Weak
Abnormal facial shapeOpen Targets
0.34Weak
Absent speechOpen Targets
0.34Weak
Motor delayOpen Targets
0.34Weak
Poor speechOpen Targets
0.34Weak
Severe intellectual disabilityOpen Targets
0.34Weak
genetic disorderOpen Targets
0.19Weak
cholelithiasisOpen Targets
0.14Weak
gallstonesOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
cholestasis, intrahepatic, of pregnancy 3Open Targets
0.07Suggestive
Intrahepatic cholestasis of pregnancyOpen Targets
0.07Suggestive
gallbladder diseaseOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
Isolated nail anomalyOpen Targets
0.05Suggestive
nonsyndromic congenital nail disorder 8Open Targets
0.05Suggestive
liver diseaseOpen Targets
0.05Suggestive
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomalyUniProt
Pathogenic Variants15
NM_032635.4(TMEM147):c.398T>A (p.Ile133Asn)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜…β˜†β˜†2024β†’ Residue 133
NM_032635.4(TMEM147):c.344+5G>APathogenic
Abnormal facial shape;Absent speech;Severe intellectual disability;Motor delay;Poor speech|Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly|not provided
β˜…β˜…β˜†β˜†2024
NM_032635.4(TMEM147):c.496C>T (p.Arg166Trp)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 166
NM_032635.4(TMEM147):c.345-1G>TPathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly|Gastric cancer
β˜…β˜…β˜†β˜†2023
NM_032635.4(TMEM147):c.429+2T>CPathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_032635.4(TMEM147):c.430-2A>TLikely pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†2024
NM_032635.4(TMEM147):c.63C>G (p.Tyr21Ter)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†2022β†’ Residue 21
NM_032635.4(TMEM147):c.419dup (p.Asn140fs)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†2022β†’ Residue 140
NM_032635.4(TMEM147):c.540_543dup (p.Val182fs)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†2022β†’ Residue 182
NM_032635.4(TMEM147):c.486C>G (p.Tyr162Ter)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†2022β†’ Residue 162
NM_032635.4(TMEM147):c.208-8_222delinsCTPathogenic
pseudo-Pelger-Huet anomaly
β˜…β˜†β˜†β˜†
NM_032635.4(TMEM147):c.100_118del (p.Lys34fs)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†β†’ Residue 34
NM_032635.4(TMEM147):c.390G>A (p.Trp130Ter)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†β†’ Residue 130
NM_032635.4(TMEM147):c.163_172del (p.Thr55fs)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜…β˜†β˜†β˜†β†’ Residue 55
NM_032635.4(TMEM147):c.169_172del (p.Phe57fs)Pathogenic
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly
β˜†β˜†β˜†β˜†2022β†’ Residue 57
View on ClinVar β†—
Related Genes
NOMO1Shared pathway100%RPL39Protein interaction100%RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%RPL29Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
98%
Heart
95%
Liver
83%
Brain
53%
Bone Marrow
46%
Gene Interaction Network
Click a node to explore
TMEM147NOMO1RPL39RPL13ARPL38RPL27RPL29
PROTEIN STRUCTURE
Preparing viewer…
PDB9C7U Β· 3.65 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.27LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.69–1.27]
RankingsWhere TMEM147 stands among ~20K protein-coding genes
  • #12,060of 20,598
    Most Researched30
  • #2,481of 5,498
    Most Pathogenic Variants15
  • #13,438of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedTMEM147
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
TMEM147 aggravates the progression of HCC by modulating cholesterol homeostasis, suppressing ferroptosis, and promoting the M2 polarization of tumor-associated macrophages.
PMID: 37891677
J Exp Clin Cancer Res Β· 2023
1.00
2
Innovations in radiotherapy for tongue squamous cell carcinoma.
PMID: 39614244
J Transl Med Β· 2024
0.90
3
Integrating single-cell RNA sequencing and spatial transcriptomics to reveal the Glycolysis-related gene GPRC5A as a potential biomarker for gastric cancer by machine learning.
PMID: 40865843
Int J Biol Macromol Β· 2025
0.80
4
Role of Chondrocytes in the Development of Rheumatoid Arthritis Via Transmembrane Protein 147-Mediated NF-ΞΊB Activation.
PMID: 31785076
Arthritis Rheumatol Β· 2020
0.70
5
TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.
PMID: 32694168
J Cell Sci Β· 2020
0.60