RPL26

ribosomal protein L26, the group of L ribosomal proteins

Basic information

Region (hg38): 17:8377516-8383213

Links

ENSG00000161970 ∙ NCBI:6154 ∙ OMIM:603704 ∙ HGNC:10327 ∙ Uniprot:P61254 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Diamond-Blackfan anemia 11 (Strong), mode of inheritance: AD
• Diamond-Blackfan anemia 11 (Limited), mode of inheritance: AD
• Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
• Diamond-Blackfan anemia 11 (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Diamond-Blackfan anemia 11	AD	Cardiovascular; Hematologic; Oncologic	Individuals may manifest with severe, transfusion dependent anemia, as well as profound neutropenia, and medical treatment (eg, with corticosteroids) has been reported as beneficial; Surveillance for and early treatment of malignancy may allow early detection and management; Awareness of the hearing loss may allow early interventions related to speech and language development; Individuals with DBA may manifest a variety of congenital malformations (eg, cardiac anomalies), and awareness may allow prompt detection and management	Audiologic/Otolaryngologic; Cardiovascular; Craniofacial; Hematologic; Musculoskeletal; Oncologic; Renal	16317735; 17186470; 18535205; 19061985; 20116044; 20301769; 22431104

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL26 gene.

• Diamond-Blackfan anemia 11 (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL26 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				22		22
missense			27	1		28
nonsense						0
start loss						0
frameshift	2					2
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region		1	2	2		5
non coding			1	13	8	22
Total	2	1	28	36	8

Variants in RPL26

This is a list of pathogenic ClinVar variants found in the RPL26 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-8377566-A-C		Diamond-Blackfan anemia	Uncertain significance (Sep 17, 2022)
17-8377576-C-T		Diamond-Blackfan anemia	Likely benign (Dec 19, 2022)
17-8377586-G-A		Diamond-Blackfan anemia	Uncertain significance (Mar 14, 2023)
17-8377594-C-T		Diamond-Blackfan anemia	Likely benign (Mar 14, 2023)
17-8377614-T-C		Diamond-Blackfan anemia	Uncertain significance (Apr 15, 2023)
17-8377618-T-A		Diamond-Blackfan anemia	Likely benign (Jul 06, 2024)
17-8377620-C-T		Diamond-Blackfan anemia	Uncertain significance (Jun 13, 2022)
17-8377625-C-G		Diamond-Blackfan anemia	Uncertain significance (Jul 12, 2024)
17-8377625-C-T		Diamond-Blackfan anemia • not specified • Diamond-Blackfan anemia 11	Uncertain significance (Jan 25, 2024)
17-8377631-T-G		Diamond-Blackfan anemia	Uncertain significance (Oct 02, 2022)
17-8377633-G-A		Diamond-Blackfan anemia	Likely benign (Dec 11, 2023)
17-8377635-C-T		Diamond-Blackfan anemia	Uncertain significance (Jun 12, 2024)
17-8377641-G-A		Diamond-Blackfan anemia	Uncertain significance (Apr 15, 2024)
17-8377643-T-C		Diamond-Blackfan anemia	Uncertain significance (Jul 08, 2024)
17-8377644-C-T		Diamond-Blackfan anemia	Uncertain significance (Jul 23, 2024)
17-8377645-G-C		Diamond-Blackfan anemia	Likely benign (Dec 17, 2024)
17-8377650-T-A		Diamond-Blackfan anemia	Uncertain significance (Feb 17, 2024)
17-8377653-T-G		Diamond-Blackfan anemia	Uncertain significance (Mar 23, 2022)
17-8377659-G-A		Diamond-Blackfan anemia	Uncertain significance (Dec 03, 2024)
17-8377660-G-A		Diamond-Blackfan anemia 11 • Diamond-Blackfan anemia	Likely benign (Aug 06, 2023)
17-8377660-GT-G		Diamond-Blackfan anemia 11	not provided (-)
17-8377670-A-G		Diamond-Blackfan anemia	Uncertain significance (Sep 01, 2023)
17-8377675-T-C		Diamond-Blackfan anemia • Diamond-Blackfan anemia 11	Benign/Likely benign (Jan 13, 2025)
17-8377689-C-T		Diamond-Blackfan anemia	Uncertain significance (May 04, 2022)
17-8377707-G-GA		Diamond-Blackfan anemia	Benign (Oct 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPL26	protein_coding	protein_coding	ENST00000584164	3	5694

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.916	0.0832	124643	0	1	124644	0.00000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.64	46	89.7	0.513	0.00000547	951
Missense in Polyphen		7	15.953	0.43879		182
Synonymous	-0.213	31	29.5	1.05	0.00000156	272
Loss of Function	2.62	0	7.97	0.00	6.04e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000620	0.0000620
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the large ribosomal subunit. {ECO:0000305|PubMed:26100019}.
• Disease: DISEASE: Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: 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:22431104}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation (Consensus)

Recessive Scores

• pRec: 0.187

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 52.85

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.784
• ghis: 0.657

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.890

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rpl26

Gene ontology

• Biological process: nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;cytoplasmic translation;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;cellular response to UV;ribosomal large subunit biogenesis;positive regulation of translation;cellular response to gamma radiation;positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;regulation of translation involved in cellular response to UV
• Cellular component: nucleoplasm;nucleolus;cytoplasm;cytosol;membrane;cytosolic large ribosomal subunit;cytosolic ribosome;extracellular exosome;ribonucleoprotein complex
• Molecular function: RNA binding;structural constituent of ribosome;protein binding;mRNA 5'-UTR binding