RENBP

Chr X

renin binding protein

Also known as: RBP, RNBP

NCBI Gene: 5973 ENSG00000102032 UniProt: P51606 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt, Mechanism

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]

OMIM ResearchGenerating clinical summary…

GOFmechanismLOEUF 0.49

Clinical Summary— RENBP

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.21) despite low pLI — interpret in context.

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ClinVar Variants

38 VUS of 148 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 OE?0.21 (0.10–0.49)

0≤0.351.4

Missense OE?0.84 (0.74–0.96)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 4 / 18.6Missense obs/exp: 160 / 190.7Syn Z: -0.91

This gene — mechanism propensity

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

148 submitted variants in ClinVar

ClinVar

Classification Summary

VUS38

Likely Benign6

Benign3

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	38	0	0	38
Likely Benign	4	0	2	6
Benign	1	2	0	3
Total	43	2	2	47

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

View in ClinVar →

173 pathogenic / likely-pathogenic (of 188) ClinVar copy-number / structural variants overlap RENBP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →