RPL15 Chromosome 3
Ribosomal protein L15
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What This Gene Does
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]
Gene Info
Gene Group
L ribosomal proteins
Locus Type
gene with protein product
Location
3p24.2
Ensembl
ENSG00000174748
Associated Conditions (3)
Diamond-Blackfan anemia 12
RPL15-related disorder
Cervical cancer
Key Variants
RS113086273
Conflicting classifications of pathogenicity
Health Risk
RS369956511
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 12, RPL15-related disorder, Cervical cancer
Health Risk
RS534301057
Conflicting classifications of pathogenicity
Health Risk
RS764132899
Conflicting classifications of pathogenicity
Health Risk
RS1704930969
Likely pathogenic
Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
Health Risk
RS2125253315
Pathogenic
Health Risk
RS2471214224
Pathogenic
Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
Health Risk
RS2471214687
Pathogenic
Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
Health Risk
RS2471215139
Pathogenic
Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
Health Risk
RS2471215565
Pathogenic
Health Risk
RS2471221205
Pathogenic
Diamond-Blackfan anemia 12, RPL15-related disorder, Diamond-Blackfan anemia 12
Health Risk
RS370700905
Pathogenic
Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113086273 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369956511 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 12, RPL15-related disorder, Cervical cancer |
| RS534301057 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764132899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1704930969 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12 |
| RS2125253315 | Health Risk | Pathogenic | — |
| RS2471214224 | Health Risk | Pathogenic | Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12 |
| RS2471214687 | Health Risk | Pathogenic | Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12 |
| RS2471215139 | Health Risk | Pathogenic | Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12 |
| RS2471215565 | Health Risk | Pathogenic | — |
| RS2471221205 | Health Risk | Pathogenic | Diamond-Blackfan anemia 12, RPL15-related disorder, Diamond-Blackfan anemia 12 |
| RS370700905 | Health Risk | Pathogenic | Diamond-Blackfan anemia 12, Diamond-Blackfan anemia 12 |
| RS886041445 | Health Risk | Pathogenic | — |