EMC10 Chromosome 19
ER membrane protein complex subunit 10
Upload your DNA to see your personal genotypes for variants in EMC10.
What This Gene Does
Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in endoplasmic reticulum membrane and extracellular region. Part of EMC complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ER membrane protein complex subunits
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000161671
Associated Conditions (5)
Neurodevelopmental disorder with dysmorphic facies and variable seizures
EMC10-related disorder
Malignant tumor of urinary bladder
Inborn genetic diseases
Intellectual disability
Key Variants
RS2513795226
Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS953380956
Likely pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, EMC10-related disorder, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS1008544115
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS1211225273
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS151303712
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Malignant tumor of urinary bladder, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS2122664852
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS2513789400
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS2513792624
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS765552403
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and variable seizures, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and variable seizures
Health Risk
RS765664334
Pathogenic
Health Risk
RS770255014
Pathogenic
Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and variable seizures, Intellectual disability
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2513795226 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS953380956 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, EMC10-related disorder, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS1008544115 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS1211225273 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS151303712 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Malignant tumor of urinary bladder, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2122664852 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2513789400 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS2513792624 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS765552403 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and variable seizures, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and variable seizures |
| RS765664334 | Health Risk | Pathogenic | — |
| RS770255014 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and variable seizures, Intellectual disability |