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GeneE
1 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.
EMC9
ER membrane protein complex subunit 9
Chromosome 14 Β· 14q12
NCBI Gene: 51016Ensembl: ENSG00000100908.14HGNC: HGNC:20273UniProt: H0YNH6
28PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membrane insertase activityprotein bindingprotein insertion into ER membrane by stop-transfer membrane-anchor sequencetail-anchored membrane protein insertion into ER membrane
✦AI Summary

Based on limited published evidence, EMC9 is a subunit of the endoplasmic reticulum membrane protein complex (EMC) that mediates energy-independent insertion of newly synthesized membrane proteins into ER membranes 1. EMC9 preferentially accommodates proteins with weakly hydrophobic transmembrane domains or destabilizing features 1. It facilitates cotranslational insertion of multi-pass membrane proteins and post-translational insertion of tail-anchored proteins 2. EMC9 controls topology of G protein-coupled receptors by mediating N-exo insertion of N-terminal transmembrane domains 3. Recent evidence demonstrates EMC9 is critical for neural crest development and craniofacial structure formation, with mutations causing congenital malformations 4.

Sources cited
1
EMC9 mediates energy-independent insertion of membrane proteins and tail-anchored proteins into ER membranes, preferentially accommodating weakly hydrophobic domains
PMID: 29242231
2
EMC9 facilitates cotranslational insertion of multi-pass membrane proteins and post-translational insertion of tail-anchored proteins
PMID: 29809151
3
EMC9 controls topology of multi-pass membrane proteins like GPCRs through N-exo insertion of N-terminal transmembrane domains
PMID: 30415835
4
EMC9 is essential for neural crest and craniofacial development; mutations cause congenital malformations affecting topogenesis
PMID: 37318954
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
EMC2Protein interaction100%EMC8Protein interaction100%EMC1Protein interaction100%EMC4Protein interaction100%EMC7Protein interaction100%EMC3Protein interaction100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
EMC9EMC2EMC8EMC1EMC4EMC7EMC3
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y4L Β· 2.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.77 [0.54–1.11]
RankingsWhere EMC9 stands among ~20K protein-coding genes
  • #12,346of 20,598
    Most Researched28
  • #11,452of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedEMC9
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.
PMID: 37318954
Genesis Β· 2023
1.00