Gene

RPSA

ribosomal protein SA

Cytogenetic location: 3p22.1
Coordinates: Chromosome 3: 39,406,720–39,412,542 (GRCh38)
Exons: 7 exons across 5.8 kb
Protein: 295 amino acids
Also known as: LRP, 37LRP, p40, SA, uS2
Previous symbols: LAMR1
MANE Select transcript: ENST00000301821.11NM_002295.6
Locus type: Protein-coding

Very high
Confident
Low
Very low

This page as data

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Curated reports relevant to this gene

Familial Isolated Congenital Asplenia
- Autosomal dominant
  Absence of the spleen from birth, without other malformations, that greatly increases the risk of serious pneumococcal and other bacterial infections.
  - 3 GenCC submitters rate it definitive or strong
  Actionability
  An ultrasound can confirm the absence of a spleen, and vaccination and preventive antibiotics reduce the risk of severe infection.

Broader groupings

Other Inborn Errors of Immunity
- Inborn error of immunity
  One of 114 genes linked to it
  Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.
  - 3 GenCC submitters rate it definitive or strong

How RPSA is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.1 kb of the gene's 5.8 kb; 888 of those bases code for the protein.

Sequencing RPSA

13Moderate

How hard RPSA is to sequence with short reads, out of 100

Mappability36%
Homology0%
Repeats0%
GC content0%
Reference coverage0%

positions in RPSA where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (50%) falls in a region short reads find hard.

Low mappability (1 site)

A whole genome covers all 5.8 kb of RPSA, introns included, not only the 1.1 kb of exons.

Traits linked to RPSA

The Human Phenotype Ontology lists these as features of the rare conditions RPSA can cause. Each trait's page lists the other genes linked to it.

Abnormality of blood and blood-forming tissues

Abnormality of the cardiovascular system

Absent spleen

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). RPSA gene: ribosomal protein SA. Retrieved 17 October 2026, from https://dantelabs.com/genes/rpsa

Vancouver

Dante Labs. RPSA gene: ribosomal protein SA [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rpsa

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