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…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.67

LOEUF

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Mechanism

Some data sources returned errors (1)

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