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% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian... See more...

Aliases for MRPS22 Gene

Aliases for MRPS22 Gene

  • Mitochondrial Ribosomal Protein S22 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein MS22 3 4
  • 28S Ribosomal Protein S22, Mitochondrial 3 4
  • MRP-S22 3 4
  • C3orf5 3 4
  • RPMS22 3 4
  • S22mt 3 4
  • COXPD5 3
  • GK002 3
  • GIBT 3
  • ODG7 3

External Ids for MRPS22 Gene

Previous GeneCards Identifiers for MRPS22 Gene

  • GC03P136006
  • GC03P139951
  • GC03P140383
  • GC03P140545
  • GC03P138725
  • GC03P136438

Summaries for MRPS22 Gene

Entrez Gene Summary for MRPS22 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% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPS22 Gene

MRPS22 (Mitochondrial Ribosomal Protein S22) is a Protein Coding gene. Diseases associated with MRPS22 include Combined Oxidative Phosphorylation Deficiency 5 and Ovarian Dysgenesis 7. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPS22 Gene

Additional gene information for MRPS22 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS22 Gene

Genomics for MRPS22 Gene

GeneHancer (GH) Regulatory Elements for MRPS22 Gene

Promoters and enhancers for MRPS22 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS22 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS22

Top Transcription factor binding sites by QIAGEN in the MRPS22 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for MRPS22 Gene

Genomic Locations for MRPS22 Gene
chr3:139,005,806-139,357,223
(GRCh38/hg38)
Size:
351,418 bases
Orientation:
Plus strand
chr3:138,724,648-139,076,065
(GRCh37/hg19)
Size:
351,418 bases
Orientation:
Plus strand

Genomic View for MRPS22 Gene

Genes around MRPS22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS22 Gene

Proteins for MRPS22 Gene

  • Protein details for MRPS22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P82650-RT22_HUMAN
    Recommended name:
    28S ribosomal protein S22, mitochondrial
    Protein Accession:
    P82650
    Secondary Accessions:
    • Q9H3I1

    Protein attributes for MRPS22 Gene

    Size:
    360 amino acids
    Molecular mass:
    41280 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

    Three dimensional structures from OCA and Proteopedia for MRPS22 Gene

    Alternative splice isoforms for MRPS22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPS22 Gene

Post-translational modifications for MRPS22 Gene

  • Ubiquitination at Lys104, Lys199, and Lys329
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MRPS22 Gene

Domains & Families for MRPS22 Gene

Gene Families for MRPS22 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPS22 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS22 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ribosomal protein S22 (Q96Q16_HUMAN)
  • 28S ribosomal protein S22, mitochondrial (RT22_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P82650

UniProtKB/Swiss-Prot:

RT22_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mS22 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mS22 family.
genes like me logo Genes that share domains with MRPS22: view

Function for MRPS22 Gene

Phenotypes From GWAS Catalog for MRPS22 Gene

Gene Ontology (GO) - Molecular Function for MRPS22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IDA 10938081
genes like me logo Genes that share ontologies with MRPS22: view
genes like me logo Genes that share phenotypes with MRPS22: view

Human Phenotype Ontology for MRPS22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MRPS22 Gene

MGI Knock Outs for MRPS22:
  • Mrps22 Mrps22<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for MRPS22 Gene

miRTarBase miRNAs that target MRPS22

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MRPS22 Gene

Localization for MRPS22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS22 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPS22 gene
Compartment Confidence
mitochondrion 5
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPS22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 10938081
GO:0005763 mitochondrial small ribosomal subunit IDA 10938081
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPS22: view

Pathways & Interactions for MRPS22 Gene

genes like me logo Genes that share pathways with MRPS22: view

Gene Ontology (GO) - Biological Process for MRPS22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS22: view

No data available for SIGNOR curated interactions for MRPS22 Gene

Drugs & Compounds for MRPS22 Gene

No Compound Related Data Available

Transcripts for MRPS22 Gene

mRNA/cDNA for MRPS22 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS22 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - -
SP9: - -
SP10: - - - - -
SP11:

Relevant External Links for MRPS22 Gene

GeneLoc Exon Structure for
MRPS22

Expression for MRPS22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPS22 Gene

Protein differential expression in normal tissues from HIPED for MRPS22 Gene

This gene is overexpressed in Pancreas (10.6) and Breast (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPS22 Gene



Protein tissue co-expression partners for MRPS22 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPS22

SOURCE GeneReport for Unigene cluster for MRPS22 Gene:

Hs.745001

Evidence on tissue expression from TISSUES for MRPS22 Gene

  • Nervous system(4.6)
  • Muscle(4.4)
  • Lung(2.6)
  • Intestine(2.5)
  • Adrenal gland(2.2)
  • Bone marrow(2.2)
  • Gall bladder(2.2)
  • Liver(2.2)
  • Lymph node(2.2)
  • Pancreas(2.2)
  • Thyroid gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS22 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • heart
  • heart valve
Abdomen:
  • abdominal wall
  • kidney
Pelvis:
  • placenta
  • uterus
Limb:
  • lower limb
  • upper limb
General:
  • blood vessel
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MRPS22: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MRPS22 Gene

Orthologs for MRPS22 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPS22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPS22 31 30
  • 99.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 89 (a)
OneToMany
MRPS22 30
  • 87.84 (n)
-- 31
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MRPS22 31 30
  • 85.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrps22 17 31 30
  • 83.57 (n)
rat
(Rattus norvegicus)
Mammalia Mrps22 30
  • 82.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPS22 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPS22 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPS22 31 30
  • 63.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPS22 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps22 30
  • 62.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.18337 30
zebrafish
(Danio rerio)
Actinopterygii LOC100537304 30
  • 58.91 (n)
mrps22 31 31
  • 55 (a)
OneToMany
Dr.29688 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.348 30
fruit fly
(Drosophila melanogaster)
Insecta mRpS22 31 32 30
  • 46.14 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007519 30
  • 46.07 (n)
worm
(Caenorhabditis elegans)
Secernentea mrps-22 31 30
  • 46.93 (n)
OneToOne
C14A4.14 32
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for MRPS22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRPS22 Gene

ENSEMBL:
Gene Tree for MRPS22 (if available)
TreeFam:
Gene Tree for MRPS22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS22: view image

Paralogs for MRPS22 Gene

Pseudogenes.org Pseudogenes for MRPS22 Gene

genes like me logo Genes that share paralogs with MRPS22: view

No data available for Paralogs for MRPS22 Gene

Variants for MRPS22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS22 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
587534 Uncertain Significance: Combined oxidative phosphorylation deficiency 1 139,350,182(+) C/T MISSENSE_VARIANT
643994 Uncertain Significance: not provided 139,350,197(+) A/G MISSENSE_VARIANT
671343 Benign: not provided 139,346,587(+) G/A INTRON_VARIANT
671345 Benign: not provided 139,352,385(+) C/G INTRON_VARIANT
671348 Benign: not provided 139,355,352(+) T/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MRPS22 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPS22 Gene

Variant ID Type Subtype PubMed ID
nsv1005158 CNV gain 25217958
nsv4034 CNV deletion 18451855
nsv4035 CNV insertion 18451855

Variation tolerance for MRPS22 Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPS22 Gene

Human Gene Mutation Database (HGMD)
MRPS22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPS22 Gene

Disorders for MRPS22 Gene

MalaCards: The human disease database

(18) MalaCards diseases for MRPS22 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RT22_HUMAN
  • Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719]: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. {ECO:0000269 PubMed:17873122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ovarian dysgenesis 7 (ODG7) [MIM:618117]: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition. {ECO:0000269 PubMed:29566152}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MRPS22

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRPS22: view

No data available for Genatlas for MRPS22 Gene

Publications for MRPS22 Gene

  1. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (PMID: 11175783) Crisponi L … Pilia G (Nature genetics 2001) 2 3 4 54
  2. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. (PMID: 29566152) Chen A … Buchner DA (Human molecular genetics 2018) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. (PMID: 18539099) Emdadul Haque M … Saada A (Mitochondrion 2008) 3 23 54
  5. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. (PMID: 17873122) Saada A … Elpeleg O (Journal of medical genetics 2007) 3 4 54

Products for MRPS22 Gene

Sources for MRPS22 Gene