PPEF2
protein phosphatase with EF-hand domain 2
Summary
This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780494701 | 4:76,781,845 | C/G | — | uncertain significance |
| rs767675236 | 4:76,781,918 | G/A | — | uncertain significance |
| rs764510156 | 4:76,781,938 | T/C | — | uncertain significance |
| rs762049781 | 4:76,781,992 | A/C | — | uncertain significance |
| rs138073376 | 4:76,782,056 | C/T | — | uncertain significance |
| rs751605568 | 4:76,785,626 | T/A | — | uncertain significance |
| rs148070278 | 4:76,786,474 | G/C | intron variant | — |
| rs1212196359 | 4:76,787,361 | T/A | — | uncertain significance |
| rs952625960 | 4:76,787,369 | G/C | — | uncertain significance |
| rs979600978 | 4:76,787,398 | T/A | — | uncertain significance |
| rs776841683 | 4:76,788,484 | G/A | — | uncertain significance |
| rs144838414 | 4:76,788,517 | G/A | — | uncertain significance |
| rs76575761 | 4:76,788,541 | C/T | — | uncertain significance |
| rs148568890 | 4:76,788,551 | C/T | — | likely benign |
| rs1014674599 | 4:76,793,184 | C/T | — | uncertain significance |
| rs760322160 | 4:76,793,196 | G/T | — | uncertain significance |
| rs763143738 | 4:76,793,227 | C/T | — | uncertain significance |
| rs757808446 | 4:76,793,232 | T/C | — | uncertain significance |
| rs1724297919 | 4:76,793,310 | A/G | — | uncertain significance |
| rs2475934471 | 4:76,794,416 | G/C | — | uncertain significance |
| rs754860667 | 4:76,797,447 | C/A | — | uncertain significance |
| rs745905209 | 4:76,797,478 | C/T | — | uncertain significance |
| rs1578005751 | 4:76,797,479 | G/A | — | likely benign |
| rs61756409 | 4:76,797,524 | C/G | — | uncertain significance |
| rs370312706 | 4:76,797,551 | C/G | — | uncertain significance |
| rs142757298 | 4:76,797,565 | C/T | — | uncertain significance |
| rs748444250 | 4:76,797,579 | A/C | — | uncertain significance |
| rs1724414864 | 4:76,797,594 | T/C | — | likely benign |
| rs1303282455 | 4:76,797,672 | G/A | — | uncertain significance |
| rs144341860 | 4:76,797,756 | T/C | — | uncertain significance |
| rs996019416 | 4:76,797,760 | C/T | — | uncertain significance |
| rs1724616297 | 4:76,804,168 | T/A | — | uncertain significance |
| rs1232208068 | 4:76,804,173 | A/G | — | uncertain significance |
| rs143743071 | 4:76,804,179 | A/T | — | uncertain significance |
| rs531452399 | 4:76,805,749 | T/A | — | uncertain significance |
| rs1440134399 | 4:76,805,856 | C/G | — | uncertain significance |
| rs770612556 | 4:76,809,403 | C/A | — | uncertain significance |
| rs558687379 | 4:76,809,468 | C/T | — | uncertain significance |
| rs114217817 | 4:76,810,852 | C/T | intron variant | — |
| rs144239293 | 4:76,811,223 | A/G | — | uncertain significance |
| rs943252690 | 4:76,811,232 | T/A | — | uncertain significance |
| rs200102863 | 4:76,811,240 | T/C | — | uncertain significance |
| rs145256944 | 4:76,812,831 | C/T | — | uncertain significance |
| rs201749049 | 4:76,813,062 | C/T | — | uncertain significance |
| rs200790707 | 4:76,813,077 | A/G | — | uncertain significance |
| rs749714089 | 4:76,813,092 | C/T | — | uncertain significance |
| rs769063784 | 4:76,813,093 | G/A | — | uncertain significance |
| rs775312630 | 4:76,817,428 | C/G | — | uncertain significance |
| rs1170175357 | 4:76,817,460 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.