NR2C2
nuclear receptor subfamily 2 group C member 2
Summary
This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148564132 | 3:14,995,178 | G/A | intron variant | — |
| rs11128729 | 3:15,037,851 | C/G | intron variant | — |
| rs2470638081 | 3:15,045,477 | C/T | — | uncertain significance |
| rs199933863 | 3:15,045,486 | G/A | — | uncertain significance |
| rs138788004 | 3:15,048,079 | T/C | intron variant | — |
| rs2470730555 | 3:15,055,198 | G/A | — | uncertain significance |
| rs146514188 | 3:15,057,687 | G/A | — | uncertain significance |
| rs2230441 | 3:15,064,822 | T/A | — | benign |
| rs780033916 | 3:15,071,805 | C/T | — | uncertain significance |
| rs2470857721 | 3:15,071,904 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.