RPL15 ribosomal protein L15
Gene ID: 6138, updated on 5-Mar-2024Gene type: protein coding
Also known as: L15; EC45; eL15; DBA12; RPL10; RPLY10; RPYL10
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- Go to complete Gene record for RPL15
- Go to Variation Viewer for RPL15 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 member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Diamond-Blackfan anemia 12 | See labs |
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available |
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2014-07-16) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2014-07-16) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 3p24.2
- Sequence:
- Chromosome: 3; NC_000003.12 (23916545..23924631)
- Total number of exons:
- 5
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for RPL15 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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