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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMED6
transmembrane p24 trafficking protein 6
Chromosome 16 · 16q22.1
NCBI Gene: 146456Ensembl: ENSG00000157315.6HGNC: HGNC:28331UniProt: Q8WW62
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular protein transportendoplasmic reticulum to Golgi vesicle-mediated transportGolgi organizationendoplasmic reticulumosteoarthritiscongenital disorder of glycosylation type IIsolated polycystic liver diseaseglycine N-methyltransferase deficiency
✦AI Summary

TMED6 (transmembrane p24 trafficking protein 6) is a transmembrane protein localized to the endoplasmic reticulum and Golgi apparatus that functions in intracellular vesicular transport, particularly in COPII-coated ER to Golgi transport 1. In normal physiology, TMED6 is expressed in pancreatic β cells and influences glucose-stimulated insulin secretion; siRNA knockdown of TMED6 in INS1 cells reduced glucose-stimulated insulin secretion 2, suggesting a role in glucose metabolism. Mechanistically, TMED6 expression is upregulated downstream of the transcription factor Mist1 in response to oxidative stress, enhancing ROS resistance in gastric cells 3. Genetically, TMED6 has been identified as a pleiotropic locus associated with both leukocyte telomere length and coronary artery disease risk 4. Clinically, TMED6 is notable as a molecular marker for TFE3 translocation renal cell carcinoma; the TMED6-COG8 chimeric transcript is dramatically elevated in this aggressive malignancy and can serve as a diagnostic indicator 56. Additionally, TMED6 is implicated in colorectal cancer genomic instability and has been proposed as a potential therapeutic target 7. Recent advances have developed RNA aptamers targeting TMED6 for β cell-specific delivery of imaging agents and therapeutics, demonstrating potential clinical applications in diabetes treatment 1.

Sources cited
1
TMED6 is a transmembrane protein expressed on β cells; RNA aptamers targeting TMED6 enable β cell-specific delivery of imaging reagents and therapeutics
PMID: 35383192
2
TMED6 siRNA knockdown in INS1 cells reduces glucose-stimulated insulin secretion, indicating a role in glucose metabolism
PMID: 25201977
3
Mist1 transcription factor upregulates TMED6 downstream, enhancing ROS resistance in gastric cells
PMID: 40652510
4
TMED6 is identified as a pleiotropic locus associated with leukocyte telomere length and coronary artery disease
PMID: 41027922
5
TMED6-COG8 chimeric transcript is dramatically elevated in TFE3 translocation renal cell carcinoma and serves as a diagnostic marker
PMID: 26045774
6
TMED6-COG8 chimera expression is significantly higher in TFE3 translocation RCC compared to clear cell and papillary RCC
PMID: 24339735
7
TMED6 is identified as a genomic instability gene in colorectal cancer associated with copy number alterations and survival
PMID: 35817785
Disease Associationsⓘ20
osteoarthritisOpen Targets
0.06Suggestive
congenital disorder of glycosylation type IOpen Targets
0.05Suggestive
Isolated polycystic liver diseaseOpen Targets
0.05Suggestive
glycine N-methyltransferase deficiencyOpen Targets
0.05Suggestive
Partial pancreatic agenesisOpen Targets
0.04Suggestive
portal hypertensionOpen Targets
0.04Suggestive
joint diseaseOpen Targets
0.04Suggestive
galactosemia 4Open Targets
0.04Suggestive
pancreatic agenesis 2Open Targets
0.04Suggestive
cholestasis, progressive familial intrahepatic, 9Open Targets
0.04Suggestive
Tyrosinemia type 1Open Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyOpen Targets
0.03Suggestive
sclerosing cholangitisOpen Targets
0.03Suggestive
cholestasis, progressive familial intrahepatic, 11Open Targets
0.03Suggestive
progressive familial intrahepatic cholestasis type 3Open Targets
0.03Suggestive
bronchopneumoniaOpen Targets
0.03Suggestive
Chronic Obstructive AsthmaOpen Targets
0.03Suggestive
Lung AbscessOpen Targets
0.03Suggestive
chronic pancreatitisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMED3Shared pathway100%TMED7Shared pathway100%TMED1Shared pathway75%SEC23IPShared pathway75%TMED9Shared pathway75%TMED4Shared pathway75%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
32%
Lung
28%
Heart
19%
Brain
16%
Ovary
16%
Gene Interaction Network
Click a node to explore
TMED6TMED3TMED7TMED1SEC23IPTMED9TMED4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WW62
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.42–0.92]
RankingsWhere TMED6 stands among ~20K protein-coding genes
  • #17,733of 20,598
    Most Researched8
  • #8,403of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedTMED6
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis.
PMID: 41027922
Nat Commun · 2025
1.00
2
Oxidative stress and Kras mutation in Mist1
PMID: 40652510
Cell Rep · 2025
0.86
3
Genomic instability genes in lung and colon adenocarcinoma indicate organ specificity of transcriptomic impact on Copy Number Alterations.
PMID: 35817785
Sci Rep · 2022
0.71
4
TMED6-COG8 is a novel molecular marker of TFE3 translocation renal cell carcinoma.
PMID: 26045774
Int J Clin Exp Pathol · 2015
0.57
5
RNA aptamers specific for transmembrane p24 trafficking protein 6 and Clusterin for the targeted delivery of imaging reagents and RNA therapeutics to human β cells.
PMID: 35383192
Nat Commun · 2022
0.43