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GeneE
10 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.
EMC10
ER membrane protein complex subunit 10
Chromosome 19 Β· 19q13.33
NCBI Gene: 284361Ensembl: ENSG00000161671.17HGNC: HGNC:27609UniProt: Q5UCC4
51PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membrane insertase activitypositive regulation of endothelial cell proliferationendoplasmic reticulum membranemembraneneurodevelopmental disorder with dysmorphic facies and variable seizuresgenetic disorderNeurodevelopmental disordercomplex neurodevelopmental disorder
✦AI Summary

EMC10 encodes a component of the endoplasmic reticulum membrane protein complex (EMC) that facilitates energy-independent insertion of membrane proteins into ER membranes, particularly those with weakly hydrophobic transmembrane domains or destabilizing features 1. The protein exists in two functionally distinct isoforms: a membrane-bound form (mEMC10) that suppresses hepatic ER stress and a secreted form (scEMC10) that regulates metabolic homeostasis 2. The secreted isoform acts as a circulating inhibitor of thermogenesis by binding to PKA catalytic subunit and inhibiting CREB signaling, while also suppressing muscle glucose uptake through downregulation of GLUT4 expression and membrane translocation 34. Clinically, scEMC10 is elevated in human obesity and positively correlates with insulin resistance 3. Biallelic loss-of-function variants in EMC10 cause a neurodevelopmental disorder characterized by intellectual disability, language impairment, and dysmorphic facial features 56. Recent studies indicate EMC10 variants may exhibit dual molecular effects, presenting either as mild-to-moderate intellectual disability without neurological findings or as severe disability with hypotonia and gait abnormalities 7. Therapeutic targeting of scEMC10 through neutralizing antibodies shows promise for treating obesity and metabolic disorders 3.

Sources cited
1
EMC10 facilitates energy-independent insertion of membrane proteins with weakly hydrophobic transmembrane domains
PMID: 29242231
2
EMC10 exists as membrane-bound and secreted isoforms with distinct roles in hepatic ER stress regulation
PMID: 38599383
3
Secreted EMC10 inhibits thermogenesis via PKA-CREB signaling and is elevated in human obesity
PMID: 36443308
4
Secreted EMC10 suppresses muscle glucose uptake through GLUT4 downregulation
PMID: 40441535
5
Biallelic EMC10 variants cause neurodevelopmental disorder with intellectual disability
PMID: 35684946
6
Homozygous EMC10 variants result in intellectual disability and language deficits
PMID: 35124540
7
EMC10 variants may exhibit dual molecular effects with varying disease severity
PMID: 40741735
Disease Associationsβ“˜21
neurodevelopmental disorder with dysmorphic facies and variable seizuresOpen Targets
0.70Moderate
genetic disorderOpen Targets
0.41Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
hypertensionOpen Targets
0.35Weak
response to xenobiotic stimulusOpen Targets
0.29Weak
Intellectual disabilityOpen Targets
0.12Weak
azoospermiaOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.06Suggestive
spermatogenic failure 65Open Targets
0.06Suggestive
spermatogenic failure 84Open Targets
0.05Suggestive
spermatogenic failure 93Open Targets
0.05Suggestive
spermatogenic failure 56Open Targets
0.05Suggestive
spermatogenic failure 92Open Targets
0.05Suggestive
spermatogenic failure 94Open Targets
0.05Suggestive
spermatogenic failure 54Open Targets
0.05Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.05Suggestive
spermatogenic failure 58Open Targets
0.05Suggestive
Neurodevelopmental disorder with dysmorphic facies and variable seizuresUniProt
Pathogenic Variants13
NM_206538.4(EMC10):c.343C>T (p.Arg115Ter)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures|not provided|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2025β†’ Residue 115
NM_206538.4(EMC10):c.287del (p.Gly96fs)Pathogenic
Intellectual disability|Neurodevelopmental disorder with dysmorphic facies and variable seizures|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 96
NM_206538.4(EMC10):c.289C>T (p.Arg97Ter)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 97
NM_206538.4(EMC10):c.130C>T (p.Arg44Ter)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜…β˜†β˜†β˜†2025β†’ Residue 44
NM_206538.4(EMC10):c.585-1G>TPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_206538.4(EMC10):c.70C>T (p.Arg24Ter)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures|EMC10-related disorder
β˜…β˜†β˜†β˜†2021β†’ Residue 24
NM_206538.4(EMC10):c.554del (p.Val185fs)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜…β˜†β˜†β˜†β†’ Residue 185
NM_206538.4(EMC10):c.124G>T (p.Glu42Ter)Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2025β†’ Residue 42
NM_206538.4(EMC10):c.188-2A>CPathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2022
NM_206538.4(EMC10):c.66del (p.Ser23fs)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 23
NM_206538.4(EMC10):c.543dup (p.Asn182fs)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 182
NM_206538.4(EMC10):c.259C>T (p.Gln87Ter)Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2022β†’ Residue 87
NM_206538.4(EMC10):c.679-1G>APathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
MMGT1Protein interaction100%EMC2Protein interaction77%EMC8Protein interaction77%EMC1Protein interaction77%EMC9Protein interaction77%EMC4Protein interaction77%
Tissue Expression6 tissues
Liver
100%
Ovary
81%
Heart
76%
Brain
68%
Lung
66%
Bone Marrow
52%
Gene Interaction Network
Click a node to explore
EMC10MMGT1EMC2EMC8EMC1EMC9EMC4
PROTEIN STRUCTURE
Preparing viewer…
PDB8J0O Β· 3.32 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.61LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.20 [0.90–1.61]
RankingsWhere EMC10 stands among ~20K protein-coding genes
  • #8,667of 20,598
    Most Researched51
  • #2,612of 5,498
    Most Pathogenic Variants13
  • #15,695of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedEMC10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
EMC10 modulates hepatic ER stress and steatosis in an isoform-specific manner.
PMID: 38599383
J Hepatol Β· 2024
1.00
2
Secreted EMC10 is upregulated in human obesity and its neutralizing antibody prevents diet-induced obesity in mice.
PMID: 36443308
Nat Commun Β· 2022
0.90
3
Secreted EMC10 inhibits muscle GLUT4 activity and glucose uptake in mice.
PMID: 40441535
J Biol Chem Β· 2025
0.80
4
An antisense oligonucleotide-based strategy to ameliorate cognitive dysfunction in the 22q11.2 Deletion Syndrome.
PMID: 40420562
Elife Β· 2025
0.70
5
EMC10 Gene Variants May Cause Dual Molecular Effects on the Neuropsychiatric Disease Pattern.
PMID: 40741735
Dev Neurobiol Β· 2025
0.60