RENBP

Chr X

renin binding protein

Also known as: RBP, RNBP

NCBI Gene: 5973ENSG00000102032UniProt: P51606OMIM: 312420

The protein functions as a GlcNAc 2-epimerase that catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine and is involved in the N-glycolylneuraminic acid degradation pathway. The protein also inhibits renin activity through dimerization via its leucine zipper domain. Currently, no established Mendelian diseases have been definitively linked to RENBP mutations in the medical literature.

OMIMResearchSummary from RefSeq, UniProt, Mechanism
GOFmechanismLOEUF 0.49
Clinical Summary— RENBP
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.
📋
ClinVar Variants
166 unique Pathogenic / Likely Pathogenic· 53 VUS of 330 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.449
Z-score 3.14
OE 0.21 (0.10–0.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.79Z-score
OE missense 0.84 (0.74–0.96)
160 obs / 190.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.10–0.49)
0≤0.351.4
Missense OE0.84 (0.74–0.96)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 4 / 18.6Missense obs/exp: 160 / 190.7Syn Z: -0.91
DN
0.6162th %ile
GOF
0.6834th %ile
LOF
0.3452th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

330 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic162
Likely Pathogenic4
VUS53
Likely Benign6
Benign3
Conflicting1
162
Pathogenic
4
Likely Pathogenic
53
VUS
6
Likely Benign
3
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
162
0
162
Likely Pathogenic
0
0
4
0
4
VUS
0
38
15
0
53
Likely Benign
0
4
0
2
6
Benign
0
1
2
0
3
Conflicting
—1
Total0431832229

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RENBP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Construction of a risk model associated with tryptophan metabolism and identification of related molecular subtypes in laryngeal squamous cell carcinoma
Liu F et al.·Front Genet
2025Functional
Prognostic value and immunotherapy analysis of immune cell-related genes in laryngeal cancer
Zhang S et al.·PeerJ
2025
Proteomic Response of Rat Pituitary Under Chronic Mild Stress Reveals Insights Into Vulnerability and Resistance to Anxiety or Depression
Tian F et al.·Front Genet
2021
Transcriptome combined with single-cell data to construct a prognostic model for glycosylation-related genes in osteosarcoma.
Ding N et al.·Discov Oncol
2026Functional
Sildenafil Citrate Downregulates PDE5A mRNA Expression in Women with Recurrent Pregnancy Loss without Altering Angiogenic Factors:A Preliminary Study
Kniotek M et al.·J Clin Med
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients