RPS17 ribosomal protein S17
Gene ID: 6218, updated on 8-Sep-2024Gene type: protein coding
Also known as: S17; DBA4; eS17; RPS17L; RPS17L1; RPS17L2
- See all available tests in GTR for this gene
- Go to complete Gene record for RPS17
- Go to Variation Viewer for RPS17 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Diamond-Blackfan anemia 4 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2015-12-10) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2015-12-10) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q25.2
- Sequence:
- Chromosome: 15; NC_000015.10 (82536750..82540457, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPS17 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RPS17 database
- Variation ViewerRelated Variants
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