RBP2 (Retinol Binding Protein 2)
Cellular retinol-binding protein 2 involved in vitamin A metabolism and transport
Gene Information Card
| Symbol | RBP2 |
|---|---|
| Full Name | Retinol Binding Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 5948 ncbi.nlm.nih.gov/gene/5948 |
| Ensembl ID | ENSG00000114113 |
| UniProt ID | P50120 |
| OMIM ID | 180280 |
| HGNC ID | 9922 |
| Aliases | CRBP2, CRBP-II, RBPC2 |
Description
RBP2 encodes cellular retinol-binding protein 2 (CRBP2), a cytosolic protein that binds retinol (vitamin A) and facilitates its intracellular transport, esterification, and metabolism. CRBP2 is highly expressed in the small intestine and plays a critical role in dietary vitamin A absorption and retinoid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vitamin A deficiency (related metabolic disorders) | Impaired retinol binding and transport due to RBP2 dysfunction | OMIM #180280; functional studies in knockout mice show reduced retinyl ester formation |
| Colorectal cancer | Altered RBP2 expression may affect retinoid signaling and cell differentiation | COSMIC; expression changes observed in tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 98.5 | High |
| Liver | 12.3 | Medium |
| Kidney | 5.1 | Low |
| Lung | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colon adenocarcinoma) | 45.2 | Intestinal epithelial model; high RBP2 expression |
| HepG2 (hepatocellular carcinoma) | 8.7 | Moderate expression |
| A549 (lung carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.337C>T (p.Arg113Trp) | missense | <0.01% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
RBP2 loss-of-function mutations impair retinol binding and intracellular transport, leading to reduced retinyl ester formation and potential vitamin A deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in RBP2.
Dominant Negative (DN)
No dominant-negative mutations reported in RBP2.
View complete mutation data：
Gene Ontology (GO)
| • retinol binding (GO:0005501) | • transporter activity (GO:0005215) |
| • cytoplasm (GO:0005737) | • retinoid metabolic process (GO:0001523) |
| • retinol metabolic process (GO:0042572) |
Pathways
• Retinol metabolism (Reactome: R-HSA-975634)
• Vitamin A and carotenoid metabolism (KEGG: hsa00830)
Protein Summary
Cellular retinol-binding protein 2 (CRBP2) is a 15.6 kDa cytosolic protein that specifically binds all-trans-retinol. It is essential for the intestinal absorption of dietary vitamin A, facilitating retinol esterification by lecithin:retinol acyltransferase (LRAT). CRBP2 also participates in retinol trafficking to the liver and peripheral tissues. Its expression is highest in the small intestine, with lower levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBP2 Knockout HEK293 Cell Line | EDJ-KQ5643 | Human | 5948 | Details Get a Quote |
| NRBP2 Knockout HEK293 Cell Line | EDJ-KQ14496 | Human | 340371 | Details Get a Quote |
| NRBP2 Knockout A-549 Cell Line | EDJ-KQ44760 | Human | 340371 | Details Get a Quote |
| NRBP2 Knockout HCT 116 Cell Line | EDJ-KQ44761 | Human | 340371 | Details Get a Quote |
| NRBP2 Knockout HeLa Cell Line | EDJ-KQ44762 | Human | 340371 | Details Get a Quote |
| RBP2 Knockout HeLa Cell Line | EDJ-KQ54300 | Human | 5948 | Details Get a Quote |
| RBP2 Knockout A-549 Cell Line | EDJ-KQ62795 | Human | 5948 | Details Get a Quote |
| RBP2 Knockout HCT 116 Cell Line | EDJ-KQ71260 | Human | 5948 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
