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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMED4
transmembrane p24 trafficking protein 4
Chromosome 7 Β· 7p13
NCBI Gene: 222068Ensembl: ENSG00000158604.16HGNC: HGNC:22301UniProt: F8W7F7
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of canonical NF-kappaB signal transductionendoplasmic reticulum to Golgi vesicle-mediated transportGolgi organizationendoplasmic reticulumAlzheimer diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

TMED4 (transmembrane p24 trafficking protein 4) is a transmembrane protein involved in vesicular transport within the early secretory pathway. As a member of the p24 protein family, TMED4 cycles between the endoplasmic reticulum (ER) and Golgi compartments 1, playing a critical role in COPII-coated ER-to-Golgi vesicle-mediated transport and maintenance of Golgi apparatus organization. During germ cell differentiation, TMED4 (p25) continues to mark Golgi identity as the organelle migrates during acrosome formation, indicating its importance in dynamic cellular reorganization 2. Clinically, TMED4 dysfunction has been associated with dilated cardiomyopathy (DCM), a leading cause of heart failure. A rare loss-of-function single nucleotide variant in TMED4 was identified in Pakistani DCM patients, suggesting genetic contributions to this disease 3. TMED4 and related p24 family proteins contain GOLD domains characteristic of ER-Golgi trafficking proteins and appear to participate in stress responses, potentially regulating heat-shock response and apoptosis through mechanisms involving oxidative stress and ER stress pathways 1. These findings indicate TMED4 importance extends beyond routine protein trafficking to include roles in cellular stress adaptation and cardiac function.

Sources cited
1
Rare loss-of-function variant in TMED4 identified in dilated cardiomyopathy patients
PMID: 29886034
2
TMED4/p25 marks Golgi identity during germ cell differentiation and acrosome formation
PMID: 25808494
3
p24 family proteins contain GOLD domains, localize to ER-Golgi compartments, and regulate heat-shock response and apoptosis
PMID: 18326488
4
TMED4 identified as differentially expressed gene in adenocarcinoma progression studies
PMID: 17054434
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Alzheimer diseaseOpen Targets
0.23Weak
lysosomal storage diseaseOpen Targets
0.23Weak
multiple sclerosisOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.23Weak
Parkinson diseaseOpen Targets
0.23Weak
physical activityOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
hyperlipidemiaOpen Targets
0.15Weak
metabolic diseaseOpen Targets
0.15Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
HypercholesterolemiaOpen Targets
0.10Suggestive
ovarian dysfunctionOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
response to statinOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
coronary artery bypassOpen Targets
0.02Suggestive
coronary atherosclerosisOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
TMED3Protein interaction90%NAGLUProtein interaction79%TMED5Protein interaction76%GORASP2Protein interaction75%TMED7Shared pathway75%TMED6Shared pathway75%
Tissue Expression6 tissues
Heart
100%
Ovary
97%
Bone Marrow
79%
Brain
75%
Lung
69%
Liver
63%
Gene Interaction Network
Click a node to explore
TMED4TMED3NAGLUTMED5GORASP2TMED7TMED6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z7H5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.29LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.59–1.29]
RankingsWhere TMED4 stands among ~20K protein-coding genes
  • #8,144of 20,598
    Most Researched56
  • #13,626of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedTMED4
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.
PMID: 29886034
Gene Β· 2018
1.00
2
Expression, sorting, and segregation of Golgi proteins during germ cell differentiation in the testis.
PMID: 25808494
Mol Biol Cell Β· 2015
0.75
3
OCIA domain containing 2 is highly expressed in adenocarcinoma mixed subtype with bronchioloalveolar carcinoma component and is associated with better prognosis.
PMID: 17054434
Cancer Sci Β· 2007
0.50
4
Novel oxidative stress-responsive gene ERS25 functions as a regulator of the heat-shock and cell death response.
PMID: 18326488
J Biol Chem Β· 2008
0.25