PRRG2
proline rich and Gla domain 2
Summary
The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3760706 | 19:50,084,372 | C/A | regulatory region variant | — |
| rs3760708 | 19:50,084,596 | G/C | regulatory region variant | — |
| rs2514251967 | 19:50,086,810 | G/A | — | uncertain significance |
| rs759743460 | 19:50,086,813 | C/T | — | likely benign |
| rs371492032 | 19:50,086,814 | C/G | — | uncertain significance |
| rs971890484 | 19:50,086,862 | C/A | — | uncertain significance |
| rs748016380 | 19:50,086,877 | T/C | — | uncertain significance |
| rs762205357 | 19:50,086,942 | G/A | — | uncertain significance |
| rs141954964 | 19:50,086,974 | G/A | — | uncertain significance |
| rs767171902 | 19:50,087,174 | G/A | — | uncertain significance |
| rs8113357 | 19:50,089,910 | T/A | — | — |
| rs10426059 | 19:50,090,607 | C/T | — | — |
| rs56873913 | 19:50,091,199 | T/G | upstream gene variant | — |
| rs112727702 | 19:50,091,204 | G/T | upstream gene variant | — |
| rs10406941 | 19:50,091,464 | A/C | upstream gene variant | — |
| rs139549399 | 19:50,091,777 | A/T | — | uncertain significance |
| rs767144565 | 19:50,091,825 | G/A | — | uncertain significance |
| rs760299116 | 19:50,091,850 | G/A | — | likely benign |
| rs372756332 | 19:50,091,856 | G/A | — | uncertain significance |
| rs139807476 | 19:50,093,194 | C/G | — | uncertain significance |
| rs543849993 | 19:50,093,197 | G/C | — | uncertain significance |
| rs747306832 | 19:50,093,221 | C/A | — | uncertain significance |
| rs763555009 | 19:50,093,299 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.