RPS17

Chr 15AD

ribosomal protein S17

Also known as: DBA4, RPS17L, RPS17L1, RPS17L2, S17, eS17

NCBI Gene: 6218 ENSG00000182774 UniProt: P08708 OMIM: 180472

RPS17 encodes a ribosomal protein that is a component of the small 40S ribosomal subunit responsible for protein synthesis in the cell. Mutations cause Diamond-Blackfan anemia 4, a bone marrow failure syndrome that typically presents in infancy with severe anemia and growth retardation. This condition follows autosomal dominant inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, 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 four 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 S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diamond-Blackfan anemia 4MIM #612527

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Diamond-Blackfan anemia 4; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

📖

GeneReview available — RPS17

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in RPS17?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 570

103 rare PASS variants

Rare truncating (LoF)

1 in 15,000

4 rare PASS variants

Rare synonymous (reference)

1 in 780

89 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RPS17. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 480	≈ 1 in 280,000
South Asian	~43k	1 in 770	1 in 2,200
Remaining (unassigned)	~30k	1 in 1,800	≈ 1 in 15,000
European (Finnish)	~27k	1 in 5,300	none seen
Admixed American	~22k	1 in 410	none seen
African / African American	~21k	1 in 630	none seen
East Asian	~20k	1 in 690	1 in 580
Ashkenazi Jewish	~13k	1 in 290	none seen
Middle Eastern	~2,881	≈ 1 in 960	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓