CHN2
chimerin 2
Summary
This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10486607 | 7:29,184,489 | C/T | intron variant | — |
| rs187292682 | 7:29,186,217 | G/A | — | benign |
| rs1173270890 | 7:29,186,262 | C/T | — | likely benign |
| rs763980926 | 7:29,186,352 | T/G | — | benign |
| rs151181647 | 7:29,186,457 | C/T | — | benign |
| rs1157919216 | 7:29,186,524 | T/C | — | likely benign |
| rs574406094 | 7:29,193,822 | G/A | — | — |
| rs245908 | 7:29,209,352 | C/T | intron variant | — |
| rs567156604 | 7:29,214,935 | C/T | — | — |
| rs151036767 | 7:29,215,601 | G/A | intron variant | — |
| rs147987274 | 7:29,217,423 | A/T | intron variant | — |
| rs245914 | 7:29,218,159 | G/A | — | — |
| rs368239468 | 7:29,234,552 | G/A | — | likely benign |
| rs201909711 | 7:29,234,574 | A/C | — | uncertain significance |
| rs532697905 | 7:29,253,703 | C/G | — | — |
| rs39059 | 7:29,255,470 | A/G | downstream gene variant | — |
| rs184446291 | 7:29,275,070 | C/T | intron variant | — |
| rs245975 | 7:29,296,033 | C/A | — | — |
| rs2023908 | 7:29,327,526 | C/A | intron variant | — |
| rs115892746 | 7:29,332,539 | A/T | — | benign |
| rs13227449 | 7:29,338,501 | T/A | intron variant | — |
| rs144015556 | 7:29,350,443 | C/T | — | — |
| rs538146412 | 7:29,353,744 | A/G | — | — |
| rs2485720457 | 7:29,407,550 | T/C | — | likely benign |
| rs1002630 | 7:29,428,070 | G/A | intron variant | — |
| rs950872576 | 7:29,438,071 | C/T | — | uncertain significance |
| rs12112301 | 7:29,438,109 | C/T | splice region variant | — |
| rs140592115 | 7:29,440,152 | C/T | — | benign |
| rs186911567 | 7:29,440,234 | G/A | synonymous variant | — |
| rs1213383008 | 7:29,440,274 | A/G | — | uncertain significance |
| rs768705079 | 7:29,440,313 | A/G | — | uncertain significance |
| rs764730855 | 7:29,440,365 | T/C | — | uncertain significance |
| rs755624627 | 7:29,443,391 | C/T | — | — |
| rs77587924 | 7:29,457,966 | G/A | intron variant | — |
| rs1362363 | 7:29,511,689 | T/C | regulatory region variant | — |
| rs3750103 | 7:29,519,929 | A/G | missense variant | — |
| rs145906178 | 7:29,539,577 | C/T | — | benign |
| rs2487334908 | 7:29,539,613 | A/C | — | uncertain significance |
| rs775178372 | 7:29,539,639 | G/A | — | uncertain significance |
| rs188079785 | 7:29,544,408 | T/A | — | uncertain significance |
| rs148176559 | 7:29,546,857 | C/T | — | likely benign |
| rs141086830 | 7:29,546,858 | G/A | — | likely benign |
| rs147471814 | 7:29,548,926 | A/G | — | uncertain significance |
| rs370155845 | 7:29,548,934 | G/A | — | uncertain significance |
| rs367881188 | 7:29,548,948 | C/T | — | likely benign |
| rs142788210 | 7:29,548,997 | C/T | — | uncertain significance |
| rs772757394 | 7:29,549,019 | A/G | — | uncertain significance |
| rs148488533 | 7:29,552,193 | G/A | — | uncertain significance |
| rs3750099 | 7:29,552,213 | T/C | — | benign |
| rs1791621643 | 7:29,552,232 | G/A | — | uncertain significance |
| rs34971642 | 7:29,552,256 | C/T | — | benign |
| rs2487624745 | 7:29,552,325 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.