RBP7: Retinol Binding Protein 7
Cellular Retinoic Acid Binding Protein 2 (CRABP2) - A Key Regulator of Retinoid Signaling and Lipid Metabolism
Gene Information Card
| Symbol | RBP7 |
|---|---|
| Full Name | Retinol Binding Protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.2 |
| NCBI Gene ID | 116362 ncbi.nlm.nih.gov/gene/116362 |
| Ensembl ID | ENSG00000162444 |
| UniProt ID | P29373 |
| OMIM ID | 180230 |
| HGNC ID | 9942 |
| Aliases | CRABP2, CRABP-II, RBP7 |
Description
RBP7 (Retinol Binding Protein 7) encodes the cellular retinoic acid binding protein 2 (CRABP2), a member of the fatty acid-binding protein (FABP) family. CRABP2 binds retinoic acid (RA) with high affinity and facilitates its transport to the nucleus, where RA activates retinoic acid receptors (RARs) to regulate gene transcription. The protein plays a critical role in retinoid signaling, cell differentiation, proliferation, and lipid metabolism. RBP7 is expressed in various tissues, including skin, adipose tissue, and the reproductive system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, ovarian, skin) | Altered CRABP2 expression affects RA-mediated growth inhibition and differentiation; overexpression linked to metastasis | PMID: 23454763, PMID: 25642768 |
| Type 2 diabetes | RBP7 polymorphisms associated with insulin resistance and lipid metabolism | PMID: 19073726 |
| Obesity | RBP7 expression in adipose tissue correlates with body mass index and adipocyte function | PMID: 21512156 |
| Retinoid resistance in leukemia | Low CRABP2 levels impair RA signaling in acute promyelocytic leukemia | PMID: 10655551 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | High |
| Adipose tissue | 12.8 | High |
| Breast | 8.5 | Medium |
| Ovary | 6.3 | Medium |
| Liver | 2.1 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF-7 (breast cancer) | 18.4 | High expression; RA-responsive |
| A549 (lung cancer) | 5.2 | Moderate expression |
| HepG2 (liver cancer) | 1.8 | Low expression |
| SK-OV-3 (ovarian cancer) | 9.7 | Elevated compared to normal ovary |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.82G>A (p.Ala28Thr) | missense | <0.01% | Rare variant; no known disease association |
| c.314C>T (p.Pro105Leu) | missense | <0.01% | Located in ligand-binding domain; may affect RA binding |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for RBP7.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Retinoic acid signaling pathway (Reactome: R-HSA-5362768)
• Retinoid metabolism and transport (Reactome: R-HSA-975634)
• Gene expression (transcription) by retinoic acid receptors (KEGG: hsa03320)
Protein Summary
CRABP2 (encoded by RBP7) is a 138-amino-acid protein (15.6 kDa) that belongs to the intracellular lipid-binding protein family. It contains a beta-barrel structure that forms a ligand-binding pocket specific for all-trans-retinoic acid and 9-cis-retinoic acid. Upon RA binding, CRABP2 undergoes a conformational change that exposes a nuclear localization signal, enabling translocation to the nucleus where it delivers RA to RAR/RXR heterodimers. This process is essential for RA-mediated transcriptional regulation of genes involved in cell cycle control, differentiation, and apoptosis. CRABP2 also interacts with fatty acids and may modulate lipid metabolism independently of retinoid signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBP7 Knockout HEK293 Cell Line | EDJ-KQ7565 | Human | 116362 | Details Get a Quote |
| RBP7 Knockout HCT 116 Cell Line | EDJ-KQ31525 | Human | 116362 | Details Get a Quote |
| RBP7 Knockout A-549 Cell Line | EDJ-KQ32872 | Human | 116362 | Details Get a Quote |
| RBP7 Knockout HeLa Cell Line | EDJ-KQ57981 | Human | 116362 | Details Get a Quote |