MRPS22 (mitochondrial ribosomal protein S22)

Gene

• Entrez ID: 56945
• Gene name: Mitochondrial ribosomal protein S22
• Gene symbol: MRPS22
• Synonyms (NCBI Gene): C3orf5, COXPD5, GIBT, GK002, MRP-S22, ODG7, RPMS22, mS22
• Chromosome: 3
• Chromosome location: 3q23
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 605810
• HGNC: 14508
• e!Ensembl: 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

Pathways

Reactome:

Mitochondrial translation elongation
Mitochondrial translation termination

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
46 XX gonadal dysgenesis	Pathogenic	rs775354826	RCV005356003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia with lactic acidemia and hyperammonemia	Pathogenic; Likely pathogenic	rs775852045, rs771036052, rs119478059, rs2472854593, rs1322144248, rs387906924, rs775354826	RCV001336482 RCV002470482 RCV000005019 RCV003154615 RCV003486536 RCV000023481 RCV005863170	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian dysgenesis 7	Likely pathogenic; Pathogenic	rs119478059	RCV002496263	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined oxidative phosphorylation deficiency	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRPS22-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy, adult-onset, with leukoencephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Gonadal Sex Reversal	46, XX Gonadal Sex Reversal	CLINVAR_DG	29566152		★☆☆☆☆ Found in Text Mining only
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965, 29146897		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965, 29146897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21189481	Associate	★☆☆☆☆ 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 Squamous Cell	Squamous cell carcinoma	Pubtator	24299561	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	17873122	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	21189481	Associate	★☆☆☆☆ Found in Text Mining only
Combined Oxidative Phosphorylation Deficiency 5	Combined Oxidative Phosphorylation Deficiency	ORPHANET_DG	17873122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 5	Combined Oxidative Phosphorylation Deficiency	GENOMICS_ENGLAND_DG	17873122, 27604308, 28425981		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 5	Combined Oxidative Phosphorylation Deficiency	UNIPROT_DG	17873122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 5	Combined Oxidative Phosphorylation Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Oxidative Phosphorylation Deficiency 5	Combined Oxidative Phosphorylation Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	25663021		★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	21189481	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG	29566152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Huntington Disease	Huntington disease	Pubtator	38447791	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	17873122		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21189481		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	21189481		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotonia with lactic acidemia and hyperammonemia	Hypotonia With Lactic Acidemia And Hyperammonemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukoencephalopathy	Leukoencephalopathy	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
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	17873122, 28752220, 29566152		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17873122	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	CLINVAR_DG	17873122, 21189481, 25663021, 27159321, 28752220		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GWASCAT_DG	22013104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	22013104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
OVARIAN DYSGENESIS 7	Ovarian Dysgenesis	UNIPROT_DG	29566152		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OVARIAN DYSGENESIS 7	Ovarian Dysgenesis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Failure, Premature	Ovarian Failure	BEFREE	29566152, 31042289		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	GWASCAT_DG	28346442		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	29566152		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	CLINVAR_DG	29566152		★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG	29566152		★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only