NR1H2
nuclear receptor subfamily 1 group H member 2
Summary
The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17373080 | 19:50,879,524 | C/G | regulatory region variant | benign |
| rs56151148 | 19:50,879,552 | C/T | regulatory region variant | — |
| rs2695121 | 19:50,880,741 | T/C | regulatory region variant | — |
| rs2513844275 | 19:50,880,996 | G/A | — | uncertain significance |
| rs1366498535 | 19:50,881,023 | C/T | — | uncertain significance |
| rs1003805484 | 19:50,881,059 | G/T | — | uncertain significance |
| rs28514894 | 19:50,881,326 | T/C | intron variant | benign |
| rs777685852 | 19:50,881,436 | G/T | — | uncertain significance |
| rs2248949 | 19:50,882,169 | A/G | intron variant | — |
| rs1405655 | 19:50,882,619 | T/G | — | — |
| rs1568595477 | 19:50,883,059 | G/A | — | uncertain significance |
| rs2303044 | 19:50,885,201 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.