RENBP

Chr X

renin binding protein

Also known as: RBP, RNBP

The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
3
Pubs (1 yr)
0.8
Missense Z
0.49
LOEUF
Clinical SummaryRENBP
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.449
Z-score 3.14
OE 0.21 (0.100.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.79Z-score
OE missense 0.84 (0.740.96)
160 obs / 190.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.21 (0.100.49)
00.351.4
Missense OE0.84 (0.740.96)
00.61.4
Synonymous OE1.13
01.21.6
LoF obs/exp: 4 / 18.6Missense obs/exp: 160 / 190.7Syn Z: -0.91
GOF
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

0 submitted variants in ClinVar

RENBP · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC