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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51081
Gene name	Mitochondrial ribosomal protein S7
Gene symbol	MRPS7
Synonyms (NCBI Gene)	COXPD34MRP-SMRP-S7RP-S7RPMS7S7mtbMRP27auS7m
Chromosome	17
Chromosome location	17q25.1
Summary	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% prot

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miRTarBase ID	miRNA	Experiments
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT1160518	hsa-miR-125a-5p	CLIP-seq
MIRT1160519	hsa-miR-125b	CLIP-seq
MIRT1160520	hsa-miR-1273d	CLIP-seq
MIRT1160521	hsa-miR-1299	CLIP-seq
MIRT1160522	hsa-miR-1343	CLIP-seq
MIRT1160523	hsa-miR-191	CLIP-seq
MIRT1160524	hsa-miR-196a	CLIP-seq
MIRT1160525	hsa-miR-196b	CLIP-seq
MIRT1160526	hsa-miR-2115	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160529	hsa-miR-3074-5p	CLIP-seq
MIRT1160530	hsa-miR-3130-3p	CLIP-seq
MIRT1160531	hsa-miR-3159	CLIP-seq
MIRT1160532	hsa-miR-342-3p	CLIP-seq
MIRT1160533	hsa-miR-34a	CLIP-seq
MIRT1160534	hsa-miR-34c-5p	CLIP-seq
MIRT1160535	hsa-miR-3606	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT1160538	hsa-miR-4261	CLIP-seq
MIRT1160539	hsa-miR-4263	CLIP-seq
MIRT1160540	hsa-miR-4319	CLIP-seq
MIRT1160541	hsa-miR-4420	CLIP-seq
MIRT1160542	hsa-miR-4475	CLIP-seq
MIRT1160543	hsa-miR-449a	CLIP-seq
MIRT1160544	hsa-miR-449b	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160547	hsa-miR-4676-5p	CLIP-seq
MIRT1160548	hsa-miR-4682	CLIP-seq
MIRT1160549	hsa-miR-4688	CLIP-seq
MIRT1160550	hsa-miR-4714-3p	CLIP-seq
MIRT1160551	hsa-miR-4728-3p	CLIP-seq
MIRT1160552	hsa-miR-486-3p	CLIP-seq
MIRT1160553	hsa-miR-516a-3p	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160555	hsa-miR-549	CLIP-seq
MIRT1160556	hsa-miR-570	CLIP-seq
MIRT1160557	hsa-miR-575	CLIP-seq
MIRT1160558	hsa-miR-576-5p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160561	hsa-miR-767-5p	CLIP-seq
MIRT1160562	hsa-miR-875-3p	CLIP-seq
MIRT1160526	hsa-miR-2115	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160530	hsa-miR-3130-3p	CLIP-seq
MIRT1160539	hsa-miR-4263	CLIP-seq
MIRT1160553	hsa-miR-516a-3p	CLIP-seq
MIRT2046144	hsa-miR-548a-3p	CLIP-seq
MIRT2046145	hsa-miR-548e	CLIP-seq
MIRT2046146	hsa-miR-548f	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160558	hsa-miR-576-5p	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160561	hsa-miR-767-5p	CLIP-seq
MIRT1160523	hsa-miR-191	CLIP-seq
MIRT1160527	hsa-miR-221	CLIP-seq
MIRT1160528	hsa-miR-222	CLIP-seq
MIRT1160531	hsa-miR-3159	CLIP-seq
MIRT1160535	hsa-miR-3606	CLIP-seq
MIRT1160551	hsa-miR-4728-3p	CLIP-seq
MIRT1160554	hsa-miR-548v	CLIP-seq
MIRT1160560	hsa-miR-580	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT1160532	hsa-miR-342-3p	CLIP-seq
MIRT1160533	hsa-miR-34a	CLIP-seq
MIRT1160534	hsa-miR-34c-5p	CLIP-seq
MIRT1160543	hsa-miR-449a	CLIP-seq
MIRT1160544	hsa-miR-449b	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT2574213	hsa-miR-1291	CLIP-seq
MIRT2574214	hsa-miR-2467-3p	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT2574215	hsa-miR-378g	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT2574216	hsa-miR-4268	CLIP-seq
MIRT2574217	hsa-miR-4292	CLIP-seq
MIRT2574218	hsa-miR-4437	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT2574219	hsa-miR-4674	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq
MIRT1160517	hsa-miR-1208	CLIP-seq
MIRT2574213	hsa-miR-1291	CLIP-seq
MIRT2574214	hsa-miR-2467-3p	CLIP-seq
MIRT1160536	hsa-miR-3690	CLIP-seq
MIRT2574215	hsa-miR-378g	CLIP-seq
MIRT1160537	hsa-miR-4254	CLIP-seq
MIRT2574216	hsa-miR-4268	CLIP-seq
MIRT2574217	hsa-miR-4292	CLIP-seq
MIRT2574218	hsa-miR-4437	CLIP-seq
MIRT1160545	hsa-miR-452	CLIP-seq
MIRT2574219	hsa-miR-4674	CLIP-seq
MIRT1160546	hsa-miR-4676-3p	CLIP-seq
MIRT1160559	hsa-miR-578	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003729	Function	MRNA binding	IBA
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	ISS
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA
GO:0005763	Component	Mitochondrial small ribosomal subunit	IDA	25838379
GO:0005763	Component	Mitochondrial small ribosomal subunit	IEA
GO:0005763	Component	Mitochondrial small ribosomal subunit	ISS
GO:0005763	Component	Mitochondrial small ribosomal subunit	NAS	25838379
GO:0005840	Component	Ribosome	IBA
GO:0005840	Component	Ribosome	IEA
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0019843	Function	RRNA binding	IBA
GO:0032543	Process	Mitochondrial translation	ISS
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
611974	14499	ENSG00000125445

Q9Y2R9

Protein name

Small ribosomal subunit protein uS7m (28S ribosomal protein S7, mitochondrial) (MRP-S7) (S7mt) (bMRP-27a) (bMRP27a)

PDB

3J9M , 6NU2 , 6NU3 , 6RW4 , 6RW5 , 6VLZ , 6VMI , 6ZM5 , 6ZM6 , 6ZS9 , 6ZSA , 6ZSB , 6ZSC , 6ZSD , 6ZSE , 6ZSG , 7A5F , 7A5G , 7A5I , 7A5K , 7L08 , 7OG4 , 7P2E , 7PNX , 7PNY , 7PNZ , 7PO0 , 7PO1 , 7PO2 , 7PO3 , 7QI4 , 7QI5 , 7QI6 , 8ANY , 8CSP , 8CSQ , 8CSR , 8CSS , 8CST , 8CSU , 8K2A , 8OIR , 8OIS , 8QRK , 8QRL , 8QRM , 8QRN , 8RRI , 8XT0 , 8XT2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00177	Ribosomal_S7	69 → 234	Ribosomal protein S7p/S5e	Domain

Sequence

MAAPAVKVARGWSGLALGVRRAVLQLPGLTQVRWSRYSPEFKDPLIDKEYYRKPVEELTE
EEKYVRELKKTQLIKAAPAGKTSSVFEDPVISKFTNMMMIGGNKVLARSLMIQTLEAVKR
KQFEKYHAASAEEQATIERNPYTIFHQALKNCEPMIGLVPILKGGRFYQVPVPLPDRRRR
FLAMKWMITECRDKKHQRTLMPEKLSHKLLEAFHNQGPVIKRKHDLHKMAEANRALAHYR
WW

Sequence length

242

Interactions

View interactions

	KEGG		Reactome
	Ribosome		Mitochondrial translation elongation Mitochondrial translation termination

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
Premature ovarian insufficiency	Likely pathogenic	rs2545055011	RCV003153253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural hearing loss disorder	Likely pathogenic	rs2545055011	RCV003153253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency 34	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, GWAS catalog, HPO ClinVar, GWAS catalog, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRPS7-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Addison Disease	Addison`s Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23172368	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35510337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	25556185		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG	25556185		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	25556185		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	25556185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	25556185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21466612		★★★★★ ★☆☆☆☆ 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
MELAS Syndrome	Melas syndrome	Pubtator	36254078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	32665038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

MRPS7 (mitochondrial ribosomal protein S7)