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RPS14 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RPS14 gene

The RPS14 gene provides instructions for creating a ribosomal protein essential for ribosome assembly and function, with its loss linked to 5q minus syndrome.

Normal Function

The RPS14 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Ribosomes process the cell's genetic instructions to create proteins.

Each ribosome is made up of two parts (subunits) called the large and small subunits. The protein produced from the RPS14 gene is among those found in the small subunit.

The specific functions of the RPS14 protein and the other ribosomal proteins within these subunits are unclear. Some ribosomal proteins are involved in the assembly or stability of ribosomes. Others help carry out the ribosome's main function of building new proteins. Studies suggest that some ribosomal proteins may have other functions, such as participating in chemical signaling pathways within the cell, regulating cell division, and controlling the self-destruction of cells (apoptosis).

Health Conditions Related to Genetic Changes

5q minus syndrome

The RPS14 gene is involved in a condition called 5q minus (5q-) syndrome. This condition is a type of bone marrow disorder called myelodysplastic syndrome (MDS), in which immature blood cells fail to develop normally. Individuals with 5q- syndrome often have a shortage of red blood cells (anemia) and abnormalities in blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Affected individuals also have an increased risk of developing a fast-growing blood cancer known as acute myeloid leukemia (AML).

5q- syndrome is caused by deletion of a region of DNA from the long (q) arm of chromosome 5. This deletion occurs in immature blood cells during a person's lifetime and affects one copy of chromosome 5 in each cell. Most people with 5q- syndrome are missing a sequence of about 1.5 million DNA building blocks (base pairs), also written as 1.5 megabases (Mb). This region of DNA contains 40 genes, including RPS14. Loss of one copy of the RPS14 gene reduces the amount of RPS14 protein that is made. Studies indicate that a shortage of functioning ribosomal proteins increases the self-destruction of blood-forming cells in the bone marrow, resulting in anemia. Research suggests that the other features of the condition are associated with other genes in the deleted segment of DNA.

Other Names for This Gene

  • 40S ribosomal protein S14
  • emetine resistance
  • EMTB
  • S14

Frequently Asked Questions

The cornerstone therapy is lenalidomide, an immunomodulatory drug that improves anemia, reduces transfusion dependence, and often normalizes platelet counts in 70‑80 % of patients. It works partly by targeting the del(5q) clone and restoring ribosomal function. Patients are usually started at 10 mg daily for 21 days of a 28‑day cycle, with dose adjustments for renal function. Supportive care includes red‑cell transfusions and iron chelation if needed. Regular monitoring for cytopenias and clonal evolution is essential, as a minority of patients (~10‑15 %) progress to AML; early detection of increasing blasts prompts consideration of allogeneic stem‑cell transplantation.
5q‑minus syndrome is typically a somatic (acquired) chromosomal abnormality, not inherited, so routine family screening is not indicated. However, if a relative has unexplained cytopenias or a similar myelodysplastic picture, a bone‑marrow cytogenetic analysis (karyotype) or fluorescence in‑situ hybridization (FISH) targeting the 5q31 region can identify the deletion. Peripheral blood DNA microarray or next‑generation sequencing panels can also detect the loss, but these are usually ordered only when there is clinical suspicion.
Lenalidomide promotes degradation of the cereblon‑E3 ligase complex, which selectively suppresses the del(5q) clone and restores normal hematopoiesis, leading to rapid rises in hemoglobin and platelet levels. Common adverse effects include neutropenia, thrombocytopenia (often transient), fatigue, and rash. More serious risks are venous thromboembolism and tumor‑lysis‑like syndrome in patients with high blast counts. Patients should have complete blood counts weekly for the first two cycles, and prophylactic anticoagulation may be considered based on individual risk factors.
The 5q‑minus syndrome results from a deletion on the long arm of chromosome 5 that includes the RPS14 gene. RPS14 is essential for assembling the small ribosomal subunit; its loss impairs ribosome biogenesis, leading to defective protein synthesis in hematopoietic progenitor cells. This “ribosomal stress” triggers p53‑mediated apoptosis, preferentially affecting erythroid (red‑cell) and megakaryocytic (platelet) lineages, which explains the characteristic macrocytic anemia and thrombocytopenia with abnormal megakaryocytes seen in patients.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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