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.	56945
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial ribosomal protein S22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MRPS22
Synonyms (NCBI Gene) Gene synonyms aliases	C3orf5, COXPD5, GIBT, GK002, MRP-S22, ODG7, RPMS22, mS22
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q23
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76148008	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119478059	G>A	Pathogenic	Missense variant, coding sequence variant
rs201337850	T>G	Pathogenic	Coding sequence variant, stop gained
rs387906924	T>C	Pathogenic	Missense variant, coding sequence variant
rs544369132	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs753345594	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs774237195	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs775354826	G>T	Likely-pathogenic	Splice donor variant
rs863224077	TG>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030608	hsa-miR-24-3p	Microarray	19748357

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003735	Function	Structural constituent of ribosome	IBA
GO:0003735	Function	Structural constituent of ribosome	IDA	10938081
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	27023846
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005761	Component	Mitochondrial ribosome	NAS	10938081
GO:0005763	Component	Mitochondrial small ribosomal subunit	IBA
GO:0005763	Component	Mitochondrial small ribosomal subunit	IDA	10938081
GO:0005763	Component	Mitochondrial small ribosomal subunit	NAS	25838379
GO:0005840	Component	Ribosome	IEA
GO:0032543	Process	Mitochondrial translation	NAS	27023846
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
605810	14508	ENSG00000175110

Protein

UniProt ID

P82650

Protein name

Small ribosomal subunit protein mS22 (28S ribosomal protein S22, mitochondrial) (MRP-S22) (S22mt)

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
PF10245	MRP-S22	68 → 309	Mitochondrial 28S ribosomal protein S22	Family

Sequence

MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAES
GSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVE
AAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDISYSIPHRERFIVVREPSGT
LRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQDRHVDVLNLCFAQFEPDST
EYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNL
VQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS

Sequence length

360

Interactions

View interactions

	Reactome
			Mitochondrial translation elongation Mitochondrial translation termination

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypotonia With Lactic Acidemia And Hyperammonemia	hypotonia with lactic acidemia and hyperammonemia	rs119478059, rs387906924	N/A

Show/Hide Unknown Diseases (7)

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.
combined oxidative phosphorylation deficiency	Combined oxidative phosphorylation deficiency	N/A	N/A	ClinVar
Fatal Mitochondrial Disease	Mitochondrial disease	N/A	N/A	ClinVar
Gonadal Dysgenesis	46 XX gonadal dysgenesis	N/A	N/A	GenCC
Hepatoencephalopathy	hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	N/A	N/A	ClinVar
Mitochondrial Diseases	mitochondrial disease	N/A	N/A	GenCC
Ovarian Dysgenesis	ovarian dysgenesis 7	N/A	N/A	GenCC, ClinVar
premature ovarian failure	Premature ovarian failure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	24299561
Brain Diseases	Associate	21189481
Breast Neoplasms	Associate	23172368
Carcinoma Non Small Cell Lung	Associate	24299561
Carcinoma Squamous Cell	Associate	24299561
Cardiomyopathies	Associate	17873122
Cardiomyopathy Hypertrophic	Associate	21189481
De Lange Syndrome	Associate	21189481
Huntington Disease	Associate	38447791
Mitochondrial Diseases	Associate	17873122
Primary Ovarian Insufficiency	Associate	31042289
SeSAME syndrome	Associate	17873122
Tang Hsi Ryu syndrome	Associate	17873122

MRPS22 (mitochondrial ribosomal protein S22)