ESAM
endothelial cell adhesion molecule
Summary
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]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372858516 | 11:124,623,600 | C/T | — | uncertain significance |
| rs762543126 | 11:124,623,682 | G/A | — | uncertain significance |
| rs747622641 | 11:124,623,729 | C/T | — | uncertain significance |
| rs1007679687 | 11:124,623,730 | C/G | — | uncertain significance |
| rs773778811 | 11:124,623,744 | C/A | — | uncertain significance |
| rs765306132 | 11:124,623,766 | G/A | — | likely pathogenic |
| rs773915729 | 11:124,623,829 | G/T | — | uncertain significance |
| rs745435981 | 11:124,624,146 | C/T | — | uncertain significance |
| rs202114064 | 11:124,624,147 | G/A | — | uncertain significance |
| rs754676409 | 11:124,624,234 | G/A | — | uncertain significance |
| rs77048222 | 11:124,624,245 | G/T | — | benign |
| rs202178826 | 11:124,624,555 | T/C | — | uncertain significance |
| rs1944135213 | 11:124,624,623 | G/A | — | uncertain significance |
| rs532184875 | 11:124,624,654 | T/C | — | uncertain significance |
| rs772521572 | 11:124,626,166 | C/T | — | uncertain significance |
| rs139265422 | 11:124,626,167 | G/A | — | likely benign |
| rs1204372786 | 11:124,626,181 | G/A | — | uncertain significance |
| rs761390500 | 11:124,626,195 | A/G | — | uncertain significance |
| rs757435206 | 11:124,626,234 | C/T | — | likely benign |
| rs377500728 | 11:124,626,235 | G/A | — | uncertain significance |
| rs2497078868 | 11:124,626,436 | C/T | — | likely pathogenic |
| rs2497078925 | 11:124,626,461 | T/C | — | uncertain significance |
| rs139159038 | 11:124,626,544 | C/A | — | uncertain significance |
| rs61753651 | 11:124,626,569 | G/A | missense variant | Likely benign |
| rs368103397 | 11:124,628,255 | T/C | — | uncertain significance |
| rs202080091 | 11:124,628,289 | G/A | — | uncertain significance |
| rs145943464 | 11:124,628,322 | C/T | — | uncertain significance |
| rs751179699 | 11:124,628,382 | T/C | — | uncertain significance |
| rs1362421826 | 11:124,628,414 | G/A | — | uncertain significance |
| rs147752327 | 11:124,628,420 | G/T | — | uncertain significance |
| rs1368413260 | 11:124,628,423 | G/T | — | uncertain significance |
| rs1226752742 | 11:124,631,988 | A/C | — | uncertain significance |
| rs2497088037 | 11:124,632,016 | A/T | — | likely pathogenic |
| rs199860304 | 11:124,632,037 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.