CRABP2
cellular retinoic acid binding protein 2
Summary
This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188839637 | 1:156,669,050 | G/T | downstream gene variant | — |
| rs139620782 | 1:156,669,858 | G/A | — | uncertain significance |
| rs757622730 | 1:156,669,861 | G/A | — | uncertain significance |
| rs139634170 | 1:156,670,334 | C/G | — | likely benign |
| rs937557488 | 1:156,670,388 | C/G | — | uncertain significance |
| rs1648004770 | 1:156,670,446 | A/T | — | uncertain significance |
| rs376354515 | 1:156,670,707 | C/T | — | uncertain significance |
| rs771785983 | 1:156,670,737 | G/A | — | uncertain significance |
| rs775293212 | 1:156,670,740 | C/T | — | uncertain significance |
| rs1648017885 | 1:156,670,838 | T/C | — | uncertain significance |
| rs773964617 | 1:156,670,839 | T/A | — | uncertain significance |
| rs550771788 | 1:156,674,296 | C/A | — | — |
| rs764322383 | 1:156,675,181 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.