RIMBP3B

Chr 22

RIMS binding protein 3B

Also known as: RIM-BP3.2, RIM-BP3.B, RIMBP3.2

NCBI Gene: 440804 ENSG00000274600 UniProt: A6NNM3

The RIMBP3B protein is a component of the manchette, a microtubule-based structure essential for sperm head morphogenesis during late stages of sperm development. Mutations in RIMBP3B cause male infertility due to defects in spermatid development and sperm morphology, following an autosomal recessive inheritance pattern. This gene shows tolerance to loss-of-function variants in the general population, consistent with its specialized role in male fertility rather than essential cellular functions.

ResearchSummary from RefSeq, UniProt

Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.67

Clinical Summary— RIMBP3B

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

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ClinVar Variants

49 VUS of 54 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.67LOEUF

pLI 0.412

Z-score 1.00

OE 0.00 (0.00–1.67)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.27Z-score

OE missense 0.86 (0.64–1.19)

28 obs / 32.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.67)

0≤0.351.4

Missense OE?0.86 (0.64–1.19)

0≤0.61.4

Synonymous OE?1.64

0≤1.21.6

LoF obs/exp: 0 / 1.2Missense obs/exp: 28 / 32.4Syn Z: -1.92

ClinVar Variant Classifications

54 submitted variants in ClinVar

ClinVar

Classification Summary

VUS49

Likely Benign5

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	49	0	49
Likely Benign	4	1	5
Benign	0	0	0
Total	53	1	54

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

View in ClinVar →

111 pathogenic / likely-pathogenic (of 123) ClinVar copy-number / structural variants overlap RIMBP3B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →