ESAM Chromosome 11
Endothelial cell adhesion molecule
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What This Gene Does
Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"V-set domain containing|IgCAM CXADR-related subfamily"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000149564
Associated Conditions (4)
Neurodevelopmental disorder with intracranial hemorrhage
seizures
and spasticity
See cases
Key Variants
RS2497078868
Likely pathogenic
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Health Risk
RS2497079231
Likely pathogenic
See cases, Neurodevelopmental disorder with intracranial hemorrhage, seizures
Health Risk
RS2497082100
Likely pathogenic
See cases, Neurodevelopmental disorder with intracranial hemorrhage, seizures
Health Risk
RS2497088037
Likely pathogenic
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Health Risk
RS765306132
Likely pathogenic
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2497078868 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |
| RS2497079231 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with intracranial hemorrhage, seizures |
| RS2497082100 | Health Risk | Likely pathogenic | See cases, Neurodevelopmental disorder with intracranial hemorrhage, seizures |
| RS2497088037 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |
| RS765306132 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity |