HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EMC8
ER membrane protein complex subunit 8
Chromosome 16 · 16q24.1
NCBI Gene: 10328Ensembl: ENSG00000131148.10HGNC: HGNC:7864UniProt: O43402
78PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membrane insertase activityprotein bindingprotein insertion into ER membrane by stop-transfer membrane-anchor sequencetail-anchored membrane protein insertion into ER membranejaw diseasediverticular diseaseretinitis pigmentosa and erythrocytic microcytosisFamilial ocular anterior segment mesenchymal dysgenesis
✦AI Summary

EMC8 is a core subunit of the endoplasmic reticulum membrane protein complex (EMC), which facilitates energy-independent insertion of newly synthesized membrane proteins into the ER membrane 12. EMC8 preferentially accommodates proteins with weakly hydrophobic transmembrane domains or those containing destabilizing features such as charged and aromatic residues 12. The protein mediates both cotranslational insertion of multi-pass membrane proteins and post-translational insertion of tail-anchored proteins, controlling proper N-terminal topology in substrates like G protein-coupled receptors 3. Functionally, EMC8 acts as a molecular holdase, facilitating voltage-gated calcium channel assembly through transmembrane and cytoplasmic interaction docks that facilitate client protein maturation 4. Disease relevance includes congenital malformations affecting craniofacial development when EMC8 function is compromised 5. In cancer biology, EMC8 is significantly upregulated in head and neck squamous cell carcinoma, where elevated expression correlates with poor overall survival, reduced CD8+ T cell infiltration, and aggressive tumor phenotypes including hypoxia and stemness properties 6. Additionally, EMC8 DNA methylation levels are altered in systemic lupus erythematosus patients responding to fecal microbiota transplantation 7.

Sources cited
1
EMC8 enables energy-independent insertion of membrane proteins and preferentially accommodates weakly hydrophobic proteins
PMID: 29242231
2
EMC8 mediates cotranslational and post-translational insertion of membrane and tail-anchored proteins
PMID: 29809151
3
EMC8 controls topology of multi-pass membrane proteins through cotranslational insertion of N-terminal transmembrane domains
PMID: 30415835
4
EMC functions as a molecular holdase facilitating voltage-gated calcium channel assembly
PMID: 37196677
5
EMC subunits including EMC8 are essential for neural crest and craniofacial development
PMID: 37318954
6
EMC8 is upregulated in head and neck squamous cell carcinoma and correlates with poor prognosis and reduced CD8+ T cell infiltration
PMID: 41072210
7
EMC8 DNA methylation levels change in systemic lupus erythematosus patients responding to fecal microbiota transplantation
PMID: 37179169
Disease Associationsⓘ20
jaw diseaseOpen Targets
0.08Suggestive
diverticular diseaseOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.04Suggestive
exfoliation syndromeOpen Targets
0.03Suggestive
appendicitisOpen Targets
0.03Suggestive
Precordial painOpen Targets
0.03Suggestive
iridocorneal endothelial syndromeOpen Targets
0.03Suggestive
Blackfan-Diamond anemiaOpen Targets
0.03Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
isolated ectopia lentisOpen Targets
0.03Suggestive
breast benign neoplasmOpen Targets
0.03Suggestive
peritonitisOpen Targets
0.03Suggestive
Abnormal pupillary functionOpen Targets
0.03Suggestive
hemolytic anemiaOpen Targets
0.03Suggestive
Abnormality of the cardiovascular systemOpen Targets
0.03Suggestive
hypertensionOpen Targets
0.03Suggestive
Kallmann syndromeOpen Targets
0.02Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
circadian rhythm sleep disorderOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EMC2Protein interaction100%EMC9Protein interaction100%EMC1Protein interaction100%EMC4Protein interaction100%EMC7Protein interaction100%EMC3Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
82%
Heart
82%
Lung
75%
Brain
74%
Ovary
57%
Gene Interaction Network
Click a node to explore
EMC8EMC2EMC9EMC1EMC4EMC7EMC3
PROTEIN STRUCTURE
Preparing viewer…
PDB8J0O · 3.32 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.92LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.54 [0.33–0.92]
RankingsWhere EMC8 stands among ~20K protein-coding genes
  • #6,066of 20,598
    Most Researched78
  • #8,365of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedEMC8
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.
PMID: 37318954
Genesis · 2023
1.00
2
EMC chaperone-Ca
PMID: 37196677
Nature · 2023
0.75
3
EMC8 expression in head and neck squamous cell carcinoma: Implications for poor prognosis and deficient CD8+ T cell infiltration.
PMID: 41072210
Pathol Res Pract · 2025
0.50
4
Effects of fecal microbiota transplant on DNA methylation in patients with systemic lupus erythematosus.
PMID: 37179169
J Autoimmun · 2023
0.25