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Aliases for MRPS22 Gene

Aliases for MRPS22 Gene

  • Mitochondrial Ribosomal Protein S22 2 3 5
  • MRP-S22 3 4
  • C3orf5 3 4
  • RPMS22 3 4
  • S22mt 3 4
  • COXPD5 3
  • GK002 3
  • GIBT 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 hypotonia with lactic acidemia and hyperammonemia. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. GO annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPS22 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPS22 Gene

Genomics for MRPS22 Gene

Regulatory Elements for MRPS22 Gene

Genomic Location for MRPS22 Gene

Chromosome:
3
Start:
139,005,806 bp from pter
End:
139,357,223 bp from pter
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 ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct 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

Proteomics data for MRPS22 Gene at MOPED

Post-translational modifications for MRPS22 Gene

  • Ubiquitination at Lys 104, Lys 199, and Lys 329
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for MRPS22 Gene

Domains & Families for MRPS22 Gene

Gene Families for MRPS22 Gene

Protein Domains for MRPS22 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS22 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MRPS22 Gene

Function for MRPS22 Gene

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 Model Products

miRNA for MRPS22 Gene

miRTarBase miRNAs that target MRPS22

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , 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
Jensen Localization Image for MRPS22 Gene COMPARTMENTS Subcellular localization image for MRPS22 gene
Compartment Confidence
mitochondrion 5
cytosol 1
endoplasmic reticulum 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for MRPS22 Gene

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:0006996 organelle organization 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

Unigene Clusters for MRPS22 Gene

Mitochondrial ribosomal protein S22:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MRPS22

Expression for MRPS22 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MRPS22 Gene



SOURCE GeneReport for Unigene cluster for MRPS22 Gene Hs.745001

genes like me logo Genes that share expression patterns with MRPS22: view

Protein tissue co-expression partners for MRPS22 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 98 (a)
OneToOne
MRPS22 35
  • 99.35 (n)
  • 98.33 (a)
cow
(Bos Taurus)
Mammalia MRPS22 35
  • 85.79 (n)
  • 81.06 (a)
MRPS22 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
MRPS22 35
  • 87.84 (n)
  • 83.84 (a)
mouse
(Mus musculus)
Mammalia Mrps22 16
Mrps22 36
  • 79 (a)
OneToOne
Mrps22 35
  • 83.57 (n)
  • 79.11 (a)
oppossum
(Monodelphis domestica)
Mammalia MRPS22 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPS22 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrps22 35
  • 82.73 (n)
  • 78.83 (a)
chicken
(Gallus gallus)
Aves MRPS22 35
  • 63.48 (n)
  • 60.39 (a)
MRPS22 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPS22 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18337 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps22 35
  • 62.94 (n)
  • 63.05 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.348 35
zebrafish
(Danio rerio)
Actinopterygii mrps22 36
  • 55 (a)
OneToMany
mrps22 36
  • 55 (a)
OneToMany
Dr.29688 35
LOC100537304 35
  • 58.91 (n)
  • 60.13 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007519 35
  • 46.07 (n)
  • 35.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpS22 36
  • 25 (a)
OneToOne
mRpS22 37
  • 34 (a)
mRpS22 35
  • 46.14 (n)
  • 34.71 (a)
worm
(Caenorhabditis elegans)
Secernentea mrps-22 35
  • 46.93 (n)
  • 34.66 (a)
mrps-22 36
  • 22 (a)
OneToOne
C14A4.14 37
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for MRPS22:
  • 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)

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 from dbSNP and Humsavar for MRPS22 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_042733 Combined oxidative phosphorylation deficiency 5 (COXPD5)
rs1044826 -- 139,354,169(-) GTGAG(A/G)ATATG intron-variant
rs1132688 -- 139,355,786(+) TTTAA(A/T)CAAGG reference, missense
rs1140871 -- 139,356,936(+) ACAGA(A/C)GACAG reference, missense
rs1610195 -- 139,347,146(+) AGGCA(C/T)TAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv877543 CNV Gain 21882294
nsv4034 CNV Loss 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)

Relevant External Links for MRPS22 Gene

HapMap Linkage Disequilibrium report
MRPS22
Human Gene Mutation Database (HGMD)
MRPS22

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

Disorders for MRPS22 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MRPS22 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 5
  • coxpd5
hypotonia with lactic acidemia and hyperammonemia
  • combined oxidative phosphorylation deficiency 5
reticulate acropigmentation of kitamura
  • rapk
blepharophimosis
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
- 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.

Relevant External Links for MRPS22

Genetic Association Database (GAD)
MRPS22
Human Genome Epidemiology (HuGE) Navigator
MRPS22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPS22
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. (Nat. Genet. 2001) 2 3 4 67
  2. 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
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for MRPS22 Gene

Sources for MRPS22 Gene

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