RPS26
protein-codingribosomal protein S26, the group of S ribosomal proteins
Gene summary
This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~3.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AD
Disease ID:MONDO:0013217
Submitter: Labcorp Genetics (formerly Invitae)
Inheritance Pattern: AD
Disease ID:MONDO:0013217
Submitter: PanelApp Australia
Inheritance Pattern: AD
Disease ID:MONDO:0013217
Submitter: G2P
Inheritance Pattern: AD
Disease ID:MONDO:0015253
Submitter: Orphanet
Clinical Genomic Database (CGD)
Manifestation: Craniofacial;Hematologic; Musculoskeletal; Oncologic
Intervention: Hematologic; Oncologic
Rationale: Specific treatment of anemia (eg, steroids, regular transfusions) can be effective; surveillance for and early treatment of malignancy may be beneficial; Individuals with DBA may manifest a variety of congenital malformations, and awareness may allow prompt detection and management
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to RPS26 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001029.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | 30 | 2 | 36 | ||
| missense | 1 | 2 | 34 | 37 | ||
| nonsense | 4 | 1 | 1 | 6 | ||
| start loss | 5 | 1 | 6 | |||
| frameshift | 8 | 1 | 9 | |||
| splice donor/acceptor (+/-2bp) | 4 | 7 | 1 | 12 | ||
| Total | 22 | 12 | 40 | 30 | 2 | 106 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001020.2 | 4 | MANE Select | |
| Ensembl | ENSP00000496643.1 | 4 | MANE Select | |
| Ensembl | ENSP00000348849.5 | 4 | Standard | |
| Ensembl | ENSP00000348849.5 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Ribosome - Homo sapiens (human)
- Cytoplasmic Ribosomal Proteins
- SRP-dependent cotranslational protein targeting to membrane
- Formation of the ternary complex, and subsequently, the 43S complex
- Translation initiation complex formation
Biological Process
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
- cytoplasmic translation
- translation
- translational initiation
- SRP-dependent cotranslational protein targeting to membrane
Molecular Function
- RNA binding
- mRNA binding
- structural constituent of ribosome
- protein binding
- cadherin binding
Cellular Component
- nucleoplasm
- cytosol
- small ribosomal subunit
- membrane
- cytosolic small ribosomal subunit
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000356464
- Coding exons
- 4
- Length
- 2480
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.93 | 25 | 70.7 | 0.354 | 0.00000409 | 739 |
| Missense (PolyPhen) | 1 | 10.374 | 0.096392 | 163 | ||
| Synonymous | -1.89 | 34 | 22.6 | 1.51 | 0.00000106 | 234 |
| Loss of Function | 2.31 | 0 | 6.20 | 0.00 | 3.37e-7 | 67 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Disease
- DISEASE: Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:20116044, ECO:0000269|PubMed:24942156}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Intolerance Scores
- RVIS EVS
- -0.08
- RVIS percentile EVS
- 47.79
Essentials
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.970
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |