PRG2
proteoglycan 2, pro eosinophil major basic protein
Summary
The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2495386529 | 11:57,154,972 | T/A | — | uncertain significance |
| rs201649105 | 11:57,154,991 | C/G | — | uncertain significance |
| rs149828052 | 11:57,155,253 | C/A | missense variant | — |
| rs149013013 | 11:57,155,278 | C/A | — | uncertain significance |
| rs1034059029 | 11:57,155,322 | A/T | — | uncertain significance |
| rs34822980 | 11:57,155,326 | G/A | — | uncertain significance |
| rs146355394 | 11:57,155,334 | C/T | — | uncertain significance |
| rs148335550 | 11:57,156,061 | T/A | — | uncertain significance |
| rs147596433 | 11:57,156,096 | G/A | — | uncertain significance |
| rs369798570 | 11:57,156,129 | T/C | — | likely benign |
| rs1249636746 | 11:57,156,136 | T/A | — | uncertain significance |
| rs199968197 | 11:57,156,142 | T/C | — | uncertain significance |
| rs140252090 | 11:57,156,506 | G/C | missense variant | — |
| rs146040085 | 11:57,156,526 | C/T | — | uncertain significance |
| rs138745533 | 11:57,156,527 | G/A | — | uncertain significance |
| rs374218477 | 11:57,156,566 | T/G | — | uncertain significance |
| rs144421947 | 11:57,156,590 | G/C | — | uncertain significance |
| rs145532450 | 11:57,156,658 | C/T | — | uncertain significance |
| rs752212510 | 11:57,156,662 | C/T | — | uncertain significance |
| rs77900153 | 11:57,156,681 | T/C | — | benign |
| rs142628389 | 11:57,156,701 | G/T | — | uncertain significance |
| rs561559123 | 11:57,156,703 | G/T | — | uncertain significance |
| rs1485957725 | 11:57,156,731 | C/T | — | uncertain significance |
| rs144626660 | 11:57,156,745 | A/T | — | uncertain significance |
| rs548854 | 11:57,159,189 | T/C | upstream gene variant | — |
| rs550729 | 11:57,159,376 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.