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.

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 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
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