PSG9
pregnancy specific beta-1-glycoprotein 9
Summary
The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs140864598 | 19:43,762,341 | G/C | — | likely benign |
| rs1246122129 | 19:43,762,359 | A/G | — | uncertain significance |
| rs201107432 | 19:43,762,363 | T/C | — | uncertain significance |
| rs1465919977 | 19:43,762,370 | C/G | — | uncertain significance |
| rs902339210 | 19:43,762,383 | A/G | — | uncertain significance |
| rs768389868 | 19:43,762,419 | G/T | — | uncertain significance |
| rs188210101 | 19:43,762,429 | C/T | — | benign |
| rs140853035 | 19:43,762,459 | A/G | — | uncertain significance |
| rs759143947 | 19:43,762,481 | A/C | — | uncertain significance |
| rs371692441 | 19:43,762,497 | G/A | — | uncertain significance |
| rs139174279 | 19:43,762,503 | A/G | — | likely benign |
| rs1178530226 | 19:43,762,509 | T/C | — | uncertain significance |
| rs771822396 | 19:43,762,546 | C/A | — | uncertain significance |
| rs2513616718 | 19:43,762,590 | C/A | — | uncertain significance |
| rs1345709850 | 19:43,762,602 | G/A | — | uncertain significance |
| rs1356668436 | 19:43,762,606 | C/G | — | uncertain significance |
| rs376659233 | 19:43,763,030 | G/A | — | uncertain significance |
| rs138569314 | 19:43,763,038 | C/A | — | uncertain significance |
| rs1058281 | 19:43,763,042 | G/A | missense variant | — |
| rs752244374 | 19:43,763,051 | A/C | — | uncertain significance |
| rs147249563 | 19:43,763,053 | C/T | — | uncertain significance |
| rs2513618634 | 19:43,763,062 | A/G | — | uncertain significance |
| rs150585007 | 19:43,763,101 | C/T | — | uncertain significance |
| rs1455796660 | 19:43,763,161 | C/T | — | uncertain significance |
| rs868645312 | 19:43,763,231 | C/G | — | uncertain significance |
| rs752064913 | 19:43,763,235 | A/C | — | uncertain significance |
| rs538308814 | 19:43,763,247 | G/T | — | uncertain significance |
| rs552258122 | 19:43,763,263 | G/A | — | uncertain significance |
| rs4028445 | 19:43,763,274 | G/C | — | uncertain significance |
| rs2355450 | 19:43,763,275 | A/T | — | uncertain significance |
| rs190735378 | 19:43,766,002 | A/G | intron variant | — |
| rs888298199 | 19:43,766,018 | G/A | — | uncertain significance |
| rs765310727 | 19:43,766,080 | G/C | — | uncertain significance |
| rs1968736491 | 19:43,766,086 | G/T | — | uncertain significance |
| rs2513626315 | 19:43,766,096 | T/G | — | uncertain significance |
| rs568316162 | 19:43,766,111 | G/T | — | uncertain significance |
| rs143377407 | 19:43,766,113 | T/A | — | uncertain significance |
| rs146285613 | 19:43,766,132 | T/C | — | likely benign |
| rs778186849 | 19:43,766,162 | G/C | — | uncertain significance |
| rs371224482 | 19:43,766,164 | C/T | — | uncertain significance |
| rs2513626850 | 19:43,766,191 | C/G | — | uncertain significance |
| rs114293840 | 19:43,766,224 | C/A | — | uncertain significance |
| rs555763400 | 19:43,766,225 | G/T | — | uncertain significance |
| rs780251822 | 19:43,766,239 | G/A | — | uncertain significance |
| rs763772998 | 19:43,766,280 | G/C | — | likely benign |
| rs552992303 | 19:43,770,512 | T/C | — | — |
| rs1969041639 | 19:43,771,940 | T/A | — | uncertain significance |
| rs368452558 | 19:43,771,962 | A/T | — | uncertain significance |
| rs528028372 | 19:43,771,986 | C/T | — | uncertain significance |
| rs200509737 | 19:43,772,025 | C/T | — | likely benign |
| rs549173861 | 19:43,772,067 | G/A | — | uncertain significance |
| rs1234169176 | 19:43,772,083 | A/G | — | uncertain significance |
| rs533862888 | 19:43,772,124 | G/C | — | uncertain significance |
| rs191161761 | 19:43,772,152 | T/C | — | uncertain significance |
| rs1568421939 | 19:43,772,242 | G/T | — | uncertain significance |
| rs768600817 | 19:43,772,247 | G/A | — | uncertain significance |
| rs369349918 | 19:43,772,253 | A/G | — | uncertain significance |
| rs149447725 | 19:43,772,277 | G/A | — | uncertain significance |
| rs373307711 | 19:43,772,278 | G/C | — | uncertain significance |
| rs1969070141 | 19:43,772,299 | A/G | — | uncertain significance |
| rs1240937834 | 19:43,773,539 | C/A | — | uncertain significance |
| rs142118461 | 19:43,773,549 | C/T | — | likely benign |
| rs147388768 | 19:43,773,550 | G/A | — | uncertain significance |
| rs140899532 | 19:43,773,562 | A/G | — | likely benign |
| rs768183364 | 19:43,773,571 | G/A | — | likely benign |
| rs200083247 | 19:43,773,576 | G/A | — | uncertain significance |
| rs763532502 | 19:43,773,577 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.