EPDR1
ependymin related 1
Summary
The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs997441395 | 7:37,960,554 | G/T | — | uncertain significance |
| rs1015599278 | 7:37,960,597 | T/C | — | uncertain significance |
| rs957946942 | 7:37,960,657 | C/A | — | uncertain significance |
| rs760718697 | 7:37,960,680 | C/A | — | uncertain significance |
| rs746506034 | 7:37,960,720 | G/C | — | uncertain significance |
| rs13240429 | 7:37,960,835 | G/T | — | — |
| rs59771742 | 7:37,962,268 | A/G | — | — |
| rs2598109 | 7:37,971,913 | C/T | intron variant | — |
| rs75207237 | 7:37,972,390 | T/A | intron variant | — |
| rs2598100 | 7:37,980,161 | T/G | intron variant | — |
| rs3816415 | 7:37,988,311 | G/A | intron variant | — |
| rs1271864613 | 7:37,988,492 | A/G | — | uncertain significance |
| rs1786337478 | 7:37,988,533 | C/A | — | uncertain significance |
| rs149095633 | 7:37,988,534 | C/T | — | uncertain significance |
| rs145911941 | 7:37,988,588 | T/C | — | uncertain significance |
| rs16879765 | 7:37,989,095 | C/T | intron variant | — |
| rs771376229 | 7:37,989,841 | A/G | — | uncertain significance |
| rs1484374004 | 7:37,989,850 | A/C | — | uncertain significance |
| rs750207754 | 7:37,989,891 | C/T | — | uncertain significance |
| rs2722280 | 7:37,991,802 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.