RENBP: Renin Binding Protein
A key regulator of renin activity and blood pressure homeostasis
Gene Information Card
| Symbol | RENBP |
|---|---|
| Full Name | Renin Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 5973 ncbi.nlm.nih.gov/gene/5973 |
| Ensembl ID | ENSG00000102032 |
| UniProt ID | P51606 |
| OMIM ID | 312420 |
| HGNC ID | 9958 |
| Aliases | RNBP, N-acetylglucosamine 2-epimerase, N-acetylmannosamine kinase |
Description
The RENBP gene encodes renin binding protein (RnBP), a protein that binds to renin and inhibits its enzymatic activity, thereby modulating the renin-angiotensin system (RAS) and blood pressure regulation. RnBP also possesses N-acetylglucosamine 2-epimerase (ManNAc kinase) activity, involved in sialic acid biosynthesis. Mutations in RENBP are associated with X-linked intellectual disability and hypertension.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair renin binding and sialic acid metabolism, affecting neuronal development | OMIM #300123 |
| Hypertension | Altered renin inhibition leads to dysregulated RAS and elevated blood pressure | ClinVar, PMID: 23468644 |
| Renal disease | Dysregulation of renin activity contributes to renal fibrosis and hypertension | NCBI Gene, PMID: 14561707 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in embryonic kidney cells |
| HepG2 | 9.7 | Moderate expression in liver carcinoma cells |
| SH-SY5Y | 5.4 | Low expression in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.104C>T (p.Pro35Leu) | Missense | 0.01% | Reduced renin binding affinity |
| c.487G>A (p.Gly163Arg) | Missense | 0.02% | Impaired epimerase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro35Leu, p.Gly163Arg) reduce renin binding or enzymatic activity, leading to RAS dysregulation.
Gain of Function (GOF)
No gain-of-function mutations reported in RENBP.
Dominant Negative (DN)
No dominant-negative mutations described for RENBP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Renin-angiotensin system (RAS)
• Amino sugar and nucleotide sugar metabolism
• Sialic acid biosynthesis
Protein Summary
Renin binding protein (RnBP) is a 45 kDa protein that forms a heterodimer with renin, inhibiting its proteolytic activity. It also functions as a bifunctional enzyme with N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, catalyzing the first two steps of sialic acid biosynthesis. The protein is predominantly expressed in kidney and liver, and its dysregulation is linked to hypertension and X-linked intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RENBP Knockout HEK293 Cell Line | EDJ-KQ5649 | Human | 5973 | Details Get a Quote |
| RENBP Knockout HeLa Cell Line | EDJ-KQ54310 | Human | 5973 | Details Get a Quote |
| RENBP Knockout A-549 Cell Line | EDJ-KQ62804 | Human | 5973 | Details Get a Quote |
| RENBP Knockout HCT 116 Cell Line | EDJ-KQ71270 | Human | 5973 | Details Get a Quote |
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