RPS10 Chromosome 6
Ribosomal protein S10
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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 4 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 S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
S ribosomal proteins
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000124614
Associated Conditions (3)
Diamond-Blackfan anemia 9
Diamond-Blackfan anemia
RPS10-related disorder
Key Variants
RS375500787
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
Health Risk
RS781484971
Conflicting classifications of pathogenicity
Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
Health Risk
RS1765648528
Likely pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS1765892950
Likely pathogenic
Health Risk
RS2533019856
Likely pathogenic
RPS10-related disorder, RPS10-related disorder
Health Risk
RS1581931439
Pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS1581931541
Pathogenic
Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
Health Risk
RS2113806114
Pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia
Health Risk
RS2533030608
Pathogenic
Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia
Health Risk
RS267607021
Pathogenic
Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9
Health Risk
RS267607022
Pathogenic
Diamond-Blackfan anemia 9, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375500787 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9 |
| RS781484971 | Health Risk | Conflicting classifications of pathogenicity | Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia |
| RS1765648528 | Health Risk | Likely pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1765892950 | Health Risk | Likely pathogenic | — |
| RS2533019856 | Health Risk | Likely pathogenic | RPS10-related disorder, RPS10-related disorder |
| RS1581931439 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1581931541 | Health Risk | Pathogenic | Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9 |
| RS2113806114 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2533030608 | Health Risk | Pathogenic | Diamond-Blackfan anemia, Diamond-Blackfan anemia 9, Diamond-Blackfan anemia |
| RS267607021 | Health Risk | Pathogenic | Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9 |
| RS267607022 | Health Risk | Pathogenic | Diamond-Blackfan anemia 9, Diamond-Blackfan anemia, Diamond-Blackfan anemia 9 |