RPS26 (ribosomal protein S26)

Gene

• Entrez ID: 6231
• Gene name: Ribosomal protein S26
• Gene symbol: RPS26
• Synonyms (NCBI Gene): DBA10, S26, eS26
• Chromosome: 12
• Chromosome location: 12q13.2
• 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 ge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050095	hsa-miR-26a-5p	CLASH	23622248
MIRT048619	hsa-miR-99a-5p	CLASH	23622248
MIRT047775	hsa-miR-139-5p	CLASH	23622248
MIRT045055	hsa-miR-186-5p	CLASH	23622248
MIRT038666	hsa-miR-196a-3p	CLASH	23622248
MIRT563697	hsa-miR-3123	PAR-CLIP	20371350
MIRT563696	hsa-miR-4293	PAR-CLIP	20371350
MIRT563695	hsa-miR-596	PAR-CLIP	20371350
MIRT563694	hsa-miR-3919	PAR-CLIP	20371350
MIRT563693	hsa-miR-622	PAR-CLIP	20371350
MIRT563692	hsa-miR-4421	PAR-CLIP	20371350
MIRT563691	hsa-miR-5699-3p	PAR-CLIP	20371350
MIRT563690	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT563689	hsa-miR-3925-3p	PAR-CLIP	20371350
MIRT563688	hsa-miR-214-5p	PAR-CLIP	20371350
MIRT563687	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT563686	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT563685	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT563684	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT563683	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT563682	hsa-miR-629-3p	PAR-CLIP	20371350
MIRT563697	hsa-miR-3123	PAR-CLIP	20371350
MIRT563696	hsa-miR-4293	PAR-CLIP	20371350
MIRT563695	hsa-miR-596	PAR-CLIP	20371350
MIRT563694	hsa-miR-3919	PAR-CLIP	20371350
MIRT563693	hsa-miR-622	PAR-CLIP	20371350
MIRT563692	hsa-miR-4421	PAR-CLIP	20371350
MIRT563691	hsa-miR-5699-3p	PAR-CLIP	20371350
MIRT563690	hsa-miR-766-3p	PAR-CLIP	20371350
MIRT563689	hsa-miR-3925-3p	PAR-CLIP	20371350
MIRT563688	hsa-miR-214-5p	PAR-CLIP	20371350
MIRT563687	hsa-miR-6740-3p	PAR-CLIP	20371350
MIRT563686	hsa-miR-520a-5p	PAR-CLIP	20371350
MIRT563685	hsa-miR-525-5p	PAR-CLIP	20371350
MIRT563684	hsa-miR-515-5p	PAR-CLIP	20371350
MIRT563683	hsa-miR-519e-5p	PAR-CLIP	20371350
MIRT563682	hsa-miR-629-3p	PAR-CLIP	20371350
MIRT1317920	hsa-miR-3653	CLIP-seq
MIRT1317921	hsa-miR-3658	CLIP-seq
MIRT1317922	hsa-miR-4511	CLIP-seq
MIRT1317923	hsa-miR-512-5p	CLIP-seq
MIRT1317924	hsa-miR-548b-3p	CLIP-seq
MIRT1317925	hsa-miR-587	CLIP-seq
MIRT1317926	hsa-miR-766	CLIP-seq
MIRT1317925	hsa-miR-587	CLIP-seq
MIRT1317926	hsa-miR-766	CLIP-seq
MIRT1317925	hsa-miR-587	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	IDA	25957688
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IDA	15716004
GO:0003735	Function	Structural constituent of ribosome	HDA	15883184
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	23636399
GO:0003735	Function	Structural constituent of ribosome	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 32296183, 35271311
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005791	Component	Rough endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IDA	25957688
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IC	8706699, 15883184
GO:0006412	Process	Translation	IEA
GO:0015935	Component	Small ribosomal subunit	HDA	15883184
GO:0016020	Component	Membrane	HDA	19946888
GO:0022626	Component	Cytosolic ribosome	IEA
GO:0022627	Component	Cytosolic small ribosomal subunit	HDA	15883184
GO:0022627	Component	Cytosolic small ribosomal subunit	IBA
GO:0022627	Component	Cytosolic small ribosomal subunit	IDA	8706699, 23636399
GO:0022627	Component	Cytosolic small ribosomal subunit	IEA
GO:0022627	Component	Cytosolic small ribosomal subunit	NAS	25901680
GO:0033119	Process	Negative regulation of RNA splicing	IDA	15716004
GO:0045202	Component	Synapse	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0098556	Component	Cytoplasmic side of rough endoplasmic reticulum membrane	ISS
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 603701
• HGNC: 10414
• e!Ensembl: ENSG00000197728

Protein

• UniProt ID: P62854
• Protein name: Small ribosomal subunit protein eS26 (40S ribosomal protein S26)
• Protein function: Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957
• PDB: 4UG0, 4V6X, 5A2Q, 5AJ0, 5FLX, 5LKS, 5OA3, 5T2C, 5VYC, 6G5H, 6IP5, 6IP6, 6IP8, 6OLE, 6OLF, 6OLG, 6OLI, 6OLZ, 6OM0, 6OM7, 6QZP, 6XA1, 6Y0G, 6Y2L, 6Y57, 6YBD, 6YBW, 6Z6L, 6Z6M, 6Z6N, 6ZLW, 6ZM7, 6ZME, 6ZMI, 6ZMO, 6ZMW, 6ZN5, 6ZOJ, 6ZOK, 6ZON, 6ZP4, 6ZV6, 6ZVH, 6ZVJ, 6ZXG, 6ZXH, 7A09, 7K5I, 7QP6, 7QP7, 7R4X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01283	Ribosomal_S26e	1 → 107	Ribosomal protein S26e	Family

• Sequence:

  MTKKRRNNGRAKKGRGHVQPIRCTNCARCVPKDKAIKKFVIRNIVEAAAVRDISEASVFD
  AYVLPKLYVKLHYCVSCAIHSKVVRNRSREARKDRTPPPRFRPAGAAPRPPPKPM

• Sequence length: 115

Pathways

KEGG:

Ribosome
Coronavirus disease - COVID-19

Reactome:

L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anemia	Likely pathogenic	rs1593023809	RCV001003805	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2136753785, rs2136753850, rs2540723664, rs2540724145, rs2540722839, rs2540723571, rs1895894261, rs148622862, rs148942765, rs797045919, rs143951267, rs2540722766	RCV002377582 RCV002386606 RCV002320488 RCV002320613 RCV002376054 RCV002428064 RCV002435649 RCV002435658 RCV002433720 RCV005470386 RCV002415402 RCV004521051	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 10	Pathogenic; Likely pathogenic	rs2136753785, rs2136753495, rs2136753850, rs1895894261, rs148622862, rs148942765, rs786203998, rs797045919, rs140419130, rs143951267, rs267607023, rs786200892, rs2540722911, rs2540722756, rs1555208596, rs1895903499, rs1895918140	RCV001390815 RCV001783693 RCV001870068 RCV005098379 RCV003225993 RCV000167574 RCV000167575 RCV000195166 RCV002866640 RCV000006496 RCV000006497 RCV000006498 RCV000006499 RCV000006500 RCV003133807 RCV003486337 RCV003507629 RCV000559583 RCV001194602 RCV001202198 RCV001202461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	Pathogenic	rs148942765, rs786203998	RCV000191914 RCV000191913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs143951267	RCV005887327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pure red-cell aplasia	Likely pathogenic	rs1593023809	RCV001003805	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, DIAMOND-BLACKFAN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NARCOLEPSY-CATAPLEXY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL CAVITY POLYP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPS26-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anemia, Diamond-Blackfan	Anemia	BEFREE	20116044, 21435509, 23728348, 28759050, 30524470, 31277601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	20116044, 23812780, 25946618, 28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28248954		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28248954	Associate	★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	32469486	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38041572	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22144904, 23900168, 38041572	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18462017, 19039033, 22144904, 22685416, 23900168		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	21980299		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25751624		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	39719581	Associate	★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 10	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	20116044, 23812780, 25946618		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 10	Diamond-Blackfan anemia	CLINVAR_DG	20116044, 24942156, 26136524		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 10	Diamond-Blackfan anemia	UNIPROT_DG	20116044, 24942156		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 10	Diamond-Blackfan anemia	BEFREE	31277601		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 10	Diamond-Blackfan anemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33754492	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	38041572	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	28232668	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30451825		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30451825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33664499, 34704236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	30451825		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	25574825		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myopia	Myopia	BEFREE	30524470		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations