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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6223
Gene name Gene Name - the full gene name approved by the HGNC.	Ribosomal protein S19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RPS19
Synonyms (NCBI Gene) Gene synonyms aliases	DBA, DBA1, LOH19CR1, S19, eS19
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 pro

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894716	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894717	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs138938035	G>A,T	Pathogenic	Initiator codon variant, missense variant
rs143477104	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146366047	G>A,C	Likely-pathogenic	Splice acceptor variant
rs147508369	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs782329429	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555839154	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555839161	AA>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(116)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041145	hsa-miR-501-5p	CLASH	23622248
MIRT038007	hsa-miR-193b-5p	CLASH	23622248
MIRT689240	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT689239	hsa-miR-652-3p	HITS-CLIP	23313552
MIRT689238	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT689237	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT689236	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689235	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT689234	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT689233	hsa-miR-4486	HITS-CLIP	23313552
MIRT689232	hsa-miR-143-3p	HITS-CLIP	23313552
MIRT689231	hsa-miR-4770	HITS-CLIP	23313552
MIRT689230	hsa-miR-6088	HITS-CLIP	23313552
MIRT689229	hsa-miR-4708-5p	HITS-CLIP	23313552
MIRT689228	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689227	hsa-miR-3160-3p	HITS-CLIP	23313552
MIRT689226	hsa-miR-558	HITS-CLIP	23313552
MIRT689225	hsa-miR-4487	HITS-CLIP	23313552
MIRT689224	hsa-miR-4252	HITS-CLIP	23313552
MIRT689223	hsa-miR-661	HITS-CLIP	23313552
MIRT689222	hsa-miR-6789-3p	HITS-CLIP	23313552
MIRT689221	hsa-miR-566	HITS-CLIP	23313552
MIRT689220	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT689219	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT689218	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT689217	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT689216	hsa-miR-7703	HITS-CLIP	23313552
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	21572407
MIRT508196	hsa-miR-4477a	PAR-CLIP	21572407
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT451120	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT451119	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT451118	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT451117	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT451116	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT451115	hsa-miR-940	PAR-CLIP	23592263
MIRT451114	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT451113	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT451112	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT451111	hsa-miR-648	PAR-CLIP	23592263
MIRT451109	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT451110	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT451107	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT451108	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT451106	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT689240	hsa-miR-508-5p	HITS-CLIP	23313552
MIRT689239	hsa-miR-652-3p	HITS-CLIP	23313552
MIRT689238	hsa-miR-1273g-3p	HITS-CLIP	23313552
MIRT689237	hsa-miR-6849-3p	HITS-CLIP	23313552
MIRT689236	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT689235	hsa-miR-766-3p	HITS-CLIP	23313552
MIRT689234	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT689233	hsa-miR-4486	HITS-CLIP	23313552
MIRT689232	hsa-miR-143-3p	HITS-CLIP	23313552
MIRT689231	hsa-miR-4770	HITS-CLIP	23313552
MIRT689230	hsa-miR-6088	HITS-CLIP	23313552
MIRT689229	hsa-miR-4708-5p	HITS-CLIP	23313552
MIRT689228	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689227	hsa-miR-3160-3p	HITS-CLIP	23313552
MIRT689226	hsa-miR-558	HITS-CLIP	23313552
MIRT689225	hsa-miR-4487	HITS-CLIP	23313552
MIRT689224	hsa-miR-4252	HITS-CLIP	23313552
MIRT689223	hsa-miR-661	HITS-CLIP	23313552
MIRT689222	hsa-miR-6789-3p	HITS-CLIP	23313552
MIRT689221	hsa-miR-566	HITS-CLIP	23313552
MIRT689220	hsa-miR-4649-5p	HITS-CLIP	23313552
MIRT689219	hsa-miR-6729-5p	HITS-CLIP	23313552
MIRT689218	hsa-miR-6512-3p	HITS-CLIP	23313552
MIRT689217	hsa-miR-6720-5p	HITS-CLIP	23313552
MIRT689216	hsa-miR-7703	HITS-CLIP	23313552
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	20371350
MIRT508196	hsa-miR-4477a	PAR-CLIP	20371350
MIRT508198	hsa-miR-1827	PAR-CLIP	21572407
MIRT508196	hsa-miR-4477a	PAR-CLIP	21572407
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT508198	hsa-miR-1827	PAR-CLIP	23446348
MIRT508196	hsa-miR-4477a	PAR-CLIP	23446348
MIRT451120	hsa-miR-548at-5p	PAR-CLIP	23592263
MIRT451119	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT451118	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT451117	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT451116	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT451115	hsa-miR-940	PAR-CLIP	23592263
MIRT451114	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT451113	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT451112	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT451111	hsa-miR-648	PAR-CLIP	23592263
MIRT451109	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT451110	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT451107	hsa-miR-6806-5p	PAR-CLIP	23592263
MIRT451108	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT451106	hsa-miR-3591-5p	PAR-CLIP	23592263
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq
MIRT1317742	hsa-miR-1273d	CLIP-seq
MIRT1317743	hsa-miR-338-3p	CLIP-seq

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000028	Process	Ribosomal small subunit assembly	IBA
GO:0000028	Process	Ribosomal small subunit assembly	IMP	17053056
GO:0000462	Process	Maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	16990592, 17053056
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0002548	Process	Monocyte chemotaxis	IDA	11226885
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IBA
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:0005515	Function	Protein binding	IPI	16266891, 24965446, 30021884, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	12586610, 16289379, 17517689
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	17517689
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005829	Component	Cytosol	IDA	11716516
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	IDA	17517689
GO:0005840	Component	Ribosome	IEA
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:0007000	Process	Nucleolus organization	IMP	17053056
GO:0014069	Component	Postsynaptic density	EXP	21170055
GO:0014069	Component	Postsynaptic density	IDA	21170055
GO:0016020	Component	Membrane	HDA	19946888
GO:0017134	Function	Fibroblast growth factor binding	IPI	11716516
GO:0019901	Function	Protein kinase binding	IPI	16266891
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:0030218	Process	Erythrocyte differentiation	IMP	16289379
GO:0030490	Process	Maturation of SSU-rRNA	IMP	16990592, 17053056
GO:0031640	Process	Killing of cells of another organism	IDA	15019208
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IMP	18697920
GO:0042802	Function	Identical protein binding	IPI	11226885
GO:0050829	Process	Defense response to Gram-negative bacterium	IDA	15019208
GO:0060265	Process	Positive regulation of respiratory burst involved in inflammatory response	IDA	15750715
GO:0060266	Process	Negative regulation of respiratory burst involved in inflammatory response	IDA	15750715
GO:0061844	Process	Antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	15019208
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
603474	10402	ENSG00000105372

Protein

UniProt ID

P39019

Protein name

Small ribosomal subunit protein eS19 (40S ribosomal protein S19)

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). Required for pre-rRNA processing and maturation of 40S ribosom

PDB

4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBS , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOL , 6ZON , 6ZP4 , 6ZUO , 6ZV6 , 6ZVH , 6ZVJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01090	Ribosomal_S19e	5 → 141	Ribosomal protein S19e	Family

Tissue specificity

TISSUE SPECIFICITY: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue. {ECO:0000269|PubMed:1339304}.

Sequence

MPGVTVKDVNQQEFVRALAAFLKKSGKLKVPEWVDTVKLAKHKELAPYDENWFYTRAAST
ARHLYLRGGAGVGSMTKIYGGRQRNGVMPSHFSRGSKSVARRVLQALEGLKMVEKDQDGG
RKLTPQGQRDLDRIAGQVAAANKKH

Sequence length

145

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)

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Diamond-Blackfan anemia	diamond-blackfan anemia 1	rs786200936, rs1568796003, rs61762293, rs138938035, rs104894711, rs104894716, rs1555841379, rs121908649, rs786200935	N/A
diamond-blackfan anemia	Diamond-Blackfan anemia	rs786200936, rs146366047, rs144337183, rs111833764, rs138938035, rs149420497, rs61762293, rs1060503688, rs104894711, rs1064794604, rs104894716, rs1555841301, rs1555841356, rs869066130	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	35954218
Anemia	Associate	20395159, 24463277
Anemia Aplastic	Associate	16159874
Anemia Diamond Blackfan	Associate	10590074, 11264183, 12351378, 12718904, 15059149, 15384984, 15626736, 15755903, 15771965, 16159874, 16990592, 17053056, 17186470, 18217898, 18477045 View all (36 more)
Anhedonia	Associate	20378560
Capillary Malformation Arteriovenous Malformation	Associate	20054847, 28376382
Cleft Palate	Associate	20378560
Erythrokeratodermia Variabilis	Associate	18217898
Genetic Diseases Inborn	Associate	10590074
Hernias Diaphragmatic Congenital	Associate	31574871
Lupus Erythematosus Systemic	Associate	35558576
Macrocytosis Familial	Associate	10590074
Neoplasm Metastasis	Associate	29976410
Neoplasms	Associate	29976410
Neuroblastoma	Associate	32593299
Papilloma	Associate	23826176
Papillomavirus Infections	Associate	23826176
Prostatic Neoplasms	Associate	29016636
Red Cell Aplasia Pure	Associate	19587786
Renal Insufficiency	Associate	19958353
Squamous Cell Carcinoma of Head and Neck	Associate	15330156
Stomach Neoplasms	Associate	37449524
Thumb deformity alopecia pigmentation anomaly	Associate	20378560
Transient erythroblastopenia of childhood	Associate	17053056, 18217898, 19587786, 23346183
Uterine Cervical Dysplasia	Associate	22496757
Uterine Cervical Neoplasms	Associate	22496757

RPS19 (ribosomal protein S19)