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	6201
Gene name	Ribosomal protein S7
Gene symbol	RPS7
Synonyms (NCBI Gene)	DBA8S7eS7
Chromosome	2
Chromosome location	2p25.3
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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397507554	G>A	Pathogenic	Splice donor variant
rs1057519624	G>T	Pathogenic	Splice acceptor variant
rs1572360944	T>G	Likely-pathogenic	Intron variant

Show/Hide all (48)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000168	hsa-miR-21-5p	qRT-PCRQuantitative proteomic approach	19253296
MIRT000168	hsa-miR-21-5p	Microarray	20371350
MIRT000168	hsa-miR-21-5p	Microarray	17968323
MIRT000168	hsa-miR-21-5p	Microarray	17991735
MIRT000168	hsa-miR-21-5p	Microarray	19682430
MIRT000168	hsa-miR-21-5p	Microarray	19276261
MIRT000168	hsa-miR-21-5p	Microarray	19419954
MIRT000168	hsa-miR-21-5p	Microarray	18850008
MIRT000168	hsa-miR-21-5p	Microarray	16966691
MIRT000168	hsa-miR-21-5p	Microarray	19672202
MIRT000168	hsa-miR-21-5p	Microarray	19342589
MIRT000168	hsa-miR-21-5p	Microarray	21069438
MIRT000168	hsa-miR-21-5p	Microarray	18270520
MIRT000168	hsa-miR-21-5p	Microarray	19836969
MIRT000168	hsa-miR-21-5p	Microarray	19133651
MIRT000168	hsa-miR-21-5p	Sequencing	18372920
MIRT000168	hsa-miR-21-5p	Sequencing	18591254
MIRT000168	hsa-miR-21-5p	Western blot	17968323
MIRT050365	hsa-miR-24-3p	CLASH	23622248
MIRT049859	hsa-miR-31-5p	CLASH	23622248
MIRT047379	hsa-miR-34a-5p	CLASH	23622248
MIRT047249	hsa-miR-181b-5p	CLASH	23622248
MIRT046934	hsa-miR-221-3p	CLASH	23622248
MIRT045957	hsa-miR-125b-5p	CLASH	23622248
MIRT045061	hsa-miR-186-5p	CLASH	23622248
MIRT045061	hsa-miR-186-5p	CLASH	23622248
MIRT044154	hsa-miR-30e-5p	CLASH	23622248
MIRT043948	hsa-miR-378a-3p	CLASH	23622248
MIRT042652	hsa-miR-422a	CLASH	23622248
MIRT036576	hsa-miR-941	CLASH	23622248
MIRT052715	hsa-miR-1260b	CLASH	23622248
MIRT052830	hsa-miR-378c	CLASH	23622248
MIRT403410	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518113	hsa-miR-4318	PAR-CLIP	23446348
MIRT518112	hsa-miR-892a	PAR-CLIP	23446348
MIRT403412	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT518111	hsa-miR-1278	PAR-CLIP	23446348
MIRT403413	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518110	hsa-miR-1257	PAR-CLIP	23446348
MIRT518109	hsa-miR-4693-5p	PAR-CLIP	23446348
MIRT403410	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518113	hsa-miR-4318	PAR-CLIP	23446348
MIRT518112	hsa-miR-892a	PAR-CLIP	23446348
MIRT403412	hsa-miR-5003-3p	PAR-CLIP	23446348
MIRT518111	hsa-miR-1278	PAR-CLIP	23446348
MIRT403413	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT518110	hsa-miR-1257	PAR-CLIP	23446348
MIRT518109	hsa-miR-4693-5p	PAR-CLIP	23446348

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0002181	Process	Cytoplasmic translation	NAS	25901680
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	NAS	8522193
GO:0003730	Function	MRNA 3'-UTR binding	IDA	16213212
GO:0003735	Function	Structural constituent of ribosome	HDA	15883184
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	9687515, 11823430, 17310983, 18274552, 21988832, 24965446, 25416956, 28483520, 31515488, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IDA	9687515
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	11823430
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	25901680
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005840	Component	Ribosome	HDA	15883184
GO:0005840	Component	Ribosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006364	Process	RRNA processing	IBA
GO:0006364	Process	RRNA processing	IMP	18697920
GO:0006412	Process	Translation	IC	8706699, 15883184
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	NAS	8522193
GO:0010628	Process	Positive regulation of gene expression	IMP	17310983
GO:0014033	Process	Neural crest cell differentiation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0019901	Function	Protein kinase binding	IPI	20873783
GO:0022626	Component	Cytosolic ribosome	IDA	23636399
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	IEA
GO:0022627	Component	Cytosolic small ribosomal subunit	NAS	8522193, 25901680
GO:0032040	Component	Small-subunit processome	IBA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0032991	Component	Protein-containing complex	IMP	17310983
GO:0042274	Process	Ribosomal small subunit biogenesis	IBA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797
GO:0042274	Process	Ribosomal small subunit biogenesis	IMP	18697920
GO:0045202	Component	Synapse	IEA
GO:0048027	Function	MRNA 5'-UTR binding	IDA	16213212
GO:0050821	Process	Protein stabilization	IMP	17310983
GO:1902255	Process	Positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	17310983
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	17310983
GO:1990904	Component	Ribonucleoprotein complex	IDA	18809582
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990948	Function	Ubiquitin ligase inhibitor activity	IDA	17310983
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	17310983

MIM	HGNC	e!Ensembl
603658	10440	ENSG00000171863

P62081

Protein name

Small ribosomal subunit protein eS7 (40S ribosomal protein S7)

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 rRNA maturation (PubMed:19061985). Part of the sm

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 , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZON , 6ZP4 , 6ZUO , 6ZV6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01251	Ribosomal_S7e	7 → 191	Ribosomal protein S7e	Family

Sequence

MFSSSAKIVKPNGEKPDEFESGISQALLELEMNSDLKAQLRELNITAAKEIEVGGGRKAI
IIFVPVPQLKSFQKIQVRLVRELEKKFSGKHVVFIAQRRILPKPTRKSRTKNKQKRPRSR
TLTAVHDAILEDLVFPSEIVGKRIRVKLDGSRLIKVHLDKAQQNNVEHKVETFSGVYKKL
TGKDVNFEFPEFQL

Sequence length

194

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	rs2528177029	RCV002364144	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diamond-Blackfan anemia 8	Pathogenic; Likely pathogenic	rs1661257691, rs397507554, rs2528177027, rs1064796859, rs2528176273, rs1057519624, rs1572360944	RCV001333634 RCV000006525 RCV003226070 RCV003507623 RCV003507711 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

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	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; 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
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RPS7-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

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	35766008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23382688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	19061985, 20116044, 21435509, 22510774, 23382688		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Diamond-Blackfan	Anemia	GENOMICS_ENGLAND_DG	19061985, 27882484, 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
Blackfan-Diamond anemia	Blackfan-Diamond Anemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	32054657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32627011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24244431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26735579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 1	Diamond-Blackfan anemia	BEFREE	20116044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diamond-Blackfan Anemia 8	Diamond-Blackfan anemia	GENOMICS_ENGLAND_DG	19061985, 27882484		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 8	Diamond-Blackfan anemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diamond-Blackfan Anemia 8	Diamond-Blackfan anemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35558576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24244431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30247545, 30737160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30540594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24244431, 26735579, 30737160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24244431, 26735579, 30540594, 30737160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24244431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30247545, 30737160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	30737160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30540594		★★★★★ ★☆☆☆☆ Found in Text Mining only

RPS7 (ribosomal protein S7)