RPS2

Chr 16

ribosomal protein S2

Also known as: LLREP3, S2, uS5

NCBI Gene: 6187 ENSG00000140988 UniProt: P15880 OMIM: 603624

RPS2 encodes a ribosomal protein that is an essential component of the 40S ribosomal subunit and plays a critical role in protein synthesis and ribosome assembly. This gene is highly constrained against loss-of-function variants (pLI 0.85, LOEUF 0.45), reflecting its fundamental importance for cellular function. Mutations in RPS2 cause developmental delays, intellectual disability, and growth retardation, typically following an autosomal dominant inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

OMIM 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)

—

P/LP submissions

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P/LP missense

0.45

LOEUF

LOF

Mechanism· predicted