RPS19

Chr 19q13.2

ribosomal protein S19

Aliases:: S19, eS19, DBA
MANE:: ENST00000598742.6

OMIM: 603474 ↗NCBI: 6223 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RPS19 · P39019

v62025-08-01

Predicted Aligned Error matrix for RPS19 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.0/ 100

Very high

145 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cytopenia - NOT Fanconi anaemia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cytopenias and congenital anaemias
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies cancer susceptibility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Haematological malignancies for rare disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Blackfan-Diamond anemia
0.85
Diamond-Blackfan anemia
0.79
inherited bone marrow failure syndrome
0.50
Duchenne muscular dystrophy
0.50
Short thumb
0.46
influenza
0.46
acute myeloid leukemia with minimal differentiation
0.46
Triphalangeal thumb
0.46
cystic fibrosis
0.39
COVID-19
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small ribosomal subunit protein eS19

Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for pre-rRNA processing and maturation of 40S ribosomal subunits (PubMed:16990592). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)