Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6218
Gene name	Ribosomal protein S17
Gene symbol	RPS17
Synonyms (NCBI Gene)	DBA4RPS17LRPS17L1RPS17L2S17eS17
Chromosome	15
Chromosome location	15q25.2
Summary	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 ribosomal

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6991	A>C,G	Pathogenic, uncertain-significance	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs116840811	A>C	Pathogenic	Initiator codon variant, non coding transcript variant, missense variant
rs116840812	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051166	hsa-miR-16-5p	CLASH	23622248
MIRT049945	hsa-miR-30a-5p	CLASH	23622248
MIRT048036	hsa-miR-148a-3p	CLASH	23622248
MIRT047810	hsa-miR-30d-5p	CLASH	23622248
MIRT046624	hsa-miR-222-3p	CLASH	23622248
MIRT044696	hsa-miR-320a	CLASH	23622248
MIRT039783	hsa-miR-615-3p	CLASH	23622248
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT560742	hsa-miR-5692a	PAR-CLIP	20371350
MIRT560741	hsa-miR-369-3p	PAR-CLIP	20371350
MIRT560740	hsa-miR-4687-3p	PAR-CLIP	20371350
MIRT560739	hsa-miR-4433a-5p	PAR-CLIP	20371350
MIRT560738	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT560737	hsa-miR-374c-5p	PAR-CLIP	20371350
MIRT560736	hsa-miR-655-3p	PAR-CLIP	20371350
MIRT560735	hsa-miR-4433b-5p	PAR-CLIP	20371350
MIRT560734	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT1317732	hsa-miR-3120-3p	CLIP-seq
MIRT1317733	hsa-miR-3647-3p	CLIP-seq
MIRT1317734	hsa-miR-374c	CLIP-seq
MIRT1317735	hsa-miR-655	CLIP-seq
MIRT1317732	hsa-miR-3120-3p	CLIP-seq
MIRT1317733	hsa-miR-3647-3p	CLIP-seq
MIRT1317734	hsa-miR-374c	CLIP-seq
MIRT1317735	hsa-miR-655	CLIP-seq
MIRT1317732	hsa-miR-3120-3p	CLIP-seq
MIRT1317733	hsa-miR-3647-3p	CLIP-seq
MIRT1317734	hsa-miR-374c	CLIP-seq
MIRT1317735	hsa-miR-655	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
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:0003735	Function	Structural constituent of ribosome	IMP	18697920
GO:0003735	Function	Structural constituent of ribosome	NAS	17647292, 18412286
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IEA
GO:0005840	Component	Ribosome	NAS	3240863
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IC	8706699
GO:0006412	Process	Translation	IEA
GO:0006413	Process	Translational initiation	NAS	17647292
GO:0016020	Component	Membrane	HDA	19946888
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
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
GO:0022627	Component	Cytosolic small ribosomal subunit	NAS	25901680
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0034101	Process	Erythrocyte homeostasis	IMP	17647292
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IMP	18697920
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
180472	10397	ENSG00000182774

P08708

Protein name

Small ribosomal subunit protein eS17 (40S ribosomal protein S17)

Protein function

Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of

PDB

4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBD , 6YBS , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZOL , 6ZON , 6ZP4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00833	Ribosomal_S17e	1 → 122	Ribosomal S17	Family

Sequence

MGRVRTKTVKKAARVIIEKYYTRLGNDFHTNKRVCEEIAIIPSKKLRNKIAGYVTHLMKR
IQRGPVRGISIKLQEEERERRDNYVPEVSALDQEIIEVDPDTKEMLKLLDFGSLSNLQVT
QPTVGMNFKTPRGPV

Sequence length

135

Interactions

View interactions

	KEGG		Reactome
	Ribosome Coronavirus disease - COVID-19		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)

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Diamond-Blackfan anemia	Pathogenic; Likely pathogenic	rs2548306430, rs2548306778, rs116840811	RCV002360148 RCV002417107 RCV002433453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 4	Pathogenic; Likely pathogenic	rs6991, rs2548306778, rs2548305568, rs116840811, rs116840812	RCV000087020 RCV005869826 RCV003111527 RCV000013873 RCV000013874	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, DIAMOND-BLACKFAN	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34225819	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28328930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	28328930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	25853866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	17647292, 17726054, 18781615, 19953637, 20378560, 20921022, 21435509, 22510774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	LHGDN	17647292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CTD_human_DG	17647292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	25853866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35712285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 4	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	19061985, 22045982, 23812780		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 4	Diamond-Blackfan anemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 4	Diamond-Blackfan anemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythroid hypoplasia	Erythroid hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	22262766	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	8387429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17786358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35558576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	27411053	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19605641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32729067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

RPS17 (ribosomal protein S17)