CRHR2
corticotropin releasing hormone receptor 2
Summary
The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77113016 | 7:30,693,081 | C/T | — | benign |
| rs140591778 | 7:30,693,089 | G/A | — | uncertain significance |
| rs2534364041 | 7:30,693,132 | G/A | — | uncertain significance |
| rs151248954 | 7:30,693,213 | G/A | — | uncertain significance |
| rs947949622 | 7:30,695,219 | T/C | — | uncertain significance |
| rs951937875 | 7:30,695,238 | C/G | — | uncertain significance |
| rs373659532 | 7:30,695,278 | A/G | — | uncertain significance |
| rs114387211 | 7:30,695,329 | T/C | — | likely benign |
| rs386352294 | 7:30,695,545 | G/A | — | uncertain significance |
| rs150721992 | 7:30,695,556 | T/C | — | uncertain significance |
| rs200156229 | 7:30,695,570 | G/A | — | uncertain significance |
| rs766240317 | 7:30,695,577 | G/A | — | uncertain significance |
| rs1584079964 | 7:30,695,633 | A/T | — | likely benign |
| rs765062216 | 7:30,700,234 | G/C | — | uncertain significance |
| rs370359134 | 7:30,700,236 | C/T | — | uncertain significance |
| rs1784026333 | 7:30,701,787 | T/C | — | uncertain significance |
| rs2534396580 | 7:30,701,821 | G/A | — | uncertain significance |
| rs1460981215 | 7:30,701,832 | C/T | — | uncertain significance |
| rs762243978 | 7:30,702,345 | C/T | — | uncertain significance |
| rs767864800 | 7:30,702,346 | G/A | — | uncertain significance |
| rs1357822000 | 7:30,702,427 | A/T | — | uncertain significance |
| rs760977873 | 7:30,702,430 | A/T | — | uncertain significance |
| rs8192496 | 7:30,705,105 | G/A | intron variant | — |
| rs1394020517 | 7:30,705,157 | G/T | — | uncertain significance |
| rs752616590 | 7:30,705,228 | T/C | — | likely benign |
| rs1004828171 | 7:30,705,234 | A/G | — | uncertain significance |
| rs2190242 | 7:30,709,475 | C/A | intron variant | — |
| rs62446870 | 7:30,710,538 | G/A | intron variant | — |
| rs62446871 | 7:30,710,724 | C/T | intron variant | — |
| rs74338465 | 7:30,711,018 | G/A | intron variant | — |
| rs75035685 | 7:30,711,019 | G/A | intron variant | — |
| rs2284218 | 7:30,714,333 | C/T | intron variant | — |
| rs2284219 | 7:30,714,436 | A/T | — | — |
| rs62446872 | 7:30,715,619 | A/G | intron variant | — |
| rs62446873 | 7:30,715,784 | G/A | — | — |
| rs2267715 | 7:30,716,087 | G/C | — | — |
| rs2267716 | 7:30,716,643 | T/A | — | — |
| rs62446874 | 7:30,716,829 | G/T | — | — |
| rs2267717 | 7:30,717,043 | G/A | intron variant | — |
| rs62446875 | 7:30,717,061 | G/A | intron variant | — |
| rs2284220 | 7:30,718,103 | G/A | intron variant | — |
| rs775502744 | 7:30,721,563 | T/G | — | uncertain significance |
| rs1423722057 | 7:30,721,564 | C/T | — | uncertain significance |
| rs7793837 | 7:30,726,777 | A/C | — | — |
| rs6462220 | 7:30,727,920 | T/C | intron variant | — |
| rs917196 | 7:30,728,472 | C/G | regulatory region variant | — |
| rs78221471 | 7:30,728,883 | C/G | — | uncertain significance |
| rs61749076 | 7:30,728,895 | G/A | — | benign |
| rs255100 | 7:30,728,908 | A/G | — | — |
| rs62446897 | 7:30,729,574 | G/A | intron variant | — |
| rs255102 | 7:30,731,164 | A/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.