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Aliases for MRPS12 Gene

Aliases for MRPS12 Gene

  • Mitochondrial Ribosomal Protein S12 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein US12m 3 4
  • MT-RPS12 3 4
  • MRP-S12 3 4
  • RPMS12 3 4
  • RPSM12 3 4
  • S12mt 3 4
  • 28S Ribosomal Protein S12, Mitochondrial 3
  • MPR-S12 3
  • RPS12 3

External Ids for MRPS12 Gene

Previous HGNC Symbols for MRPS12 Gene

  • RPMS12

Previous GeneCards Identifiers for MRPS12 Gene

  • GC19P040033
  • GC19P039812
  • GC19P044097
  • GC19P044113
  • GC19P039422
  • GC19P035867

Summaries for MRPS12 Gene

Entrez Gene Summary for MRPS12 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 belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPS12 Gene

MRPS12 (Mitochondrial Ribosomal Protein S12) is a Protein Coding gene. Diseases associated with MRPS12 include Leber Optic Atrophy and Nonsyndromic Deafness. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

Gene Wiki entry for MRPS12 Gene

Additional gene information for MRPS12 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPS12 Gene

Genomics for MRPS12 Gene

Regulatory Elements for MRPS12 Gene

Enhancers for MRPS12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H038673 2.1 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -235.7 -235662 42 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A MEF2D HNRNPL ZNF573 ACTN4 CATSPERG PAF1 ZNF607 ENSG00000266963 ENSG00000269688 CAPN12 SUPT5H
GH19H038919 1.3 FANTOM5 ENCODE 0.4 -10.4 -10407 1.5 ZNF473 ZSCAN4 ZNF195 ZNF48 ZNF366 ZNF391 SMARCA5 ZNF280D YY2 ZNF114 HNRNPL FBL SUPT5H SARS2 PAF1 RPS16 ERVK9-11 ENSG00000266963 ENSG00000269688 RN7SL566P
GH19H038924 0.7 FANTOM5 ENCODE 0.4 -5.6 -5640 1.6 ZMYM3 SARS2 ENSG00000267892 NFKBIB ZFP36 MAP4K1 HNRNPL MRPS12 CCER2
GH19H038918 0.7 ENCODE 0.4 -12.3 -12313 0.2 ELF3 CTCF FOXA2 FOXA3 RAD21 RARA ZNF148 NR2F6 PRDM10 ZBTB20 HNRNPL CCER2 MRPS12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPS12 on UCSC Golden Path with GeneCards custom track

Promoters for MRPS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109349 352 1801 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF416 ZNF207 ZNF143

Transcription factor binding sites by QIAGEN in the MRPS12 gene promoter:

Genomic Locations for MRPS12 Gene

Genomic Locations for MRPS12 Gene
2,615 bases
Plus strand

Genomic View for MRPS12 Gene

Genes around MRPS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS12 Gene

Proteins for MRPS12 Gene

  • Protein details for MRPS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    28S ribosomal protein S12, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q53X98

    Protein attributes for MRPS12 Gene

    138 amino acids
    Molecular mass:
    15173 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 MRPS12 Gene

neXtProt entry for MRPS12 Gene

Post-translational modifications for MRPS12 Gene

  • Ubiquitination at posLast=122122
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPS12 Gene

No data available for DME Specific Peptides for MRPS12 Gene

Domains & Families for MRPS12 Gene

Gene Families for MRPS12 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPS12 Gene

Suggested Antigen Peptide Sequences for MRPS12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the universal ribosomal protein uS12 family.
  • Belongs to the universal ribosomal protein uS12 family.
genes like me logo Genes that share domains with MRPS12: view

Function for MRPS12 Gene

Phenotypes From GWAS Catalog for MRPS12 Gene

Gene Ontology (GO) - Molecular Function for MRPS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0003735 structural constituent of ribosome ISS,TAS 11402041
GO:0005515 protein binding IPI 12646258
genes like me logo Genes that share ontologies with MRPS12: view
genes like me logo Genes that share phenotypes with MRPS12: view

Animal Model Products

miRNA for MRPS12 Gene

miRTarBase miRNAs that target MRPS12

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPS12 Gene

Localization for MRPS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS12 Gene


Subcellular locations from

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 MRPS12 gene
Compartment Confidence
mitochondrion 5
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome TAS 9545647
GO:0005763 mitochondrial small ribosomal subunit ISS 11402041
genes like me logo Genes that share ontologies with MRPS12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPS12 Gene

Pathways & Interactions for MRPS12 Gene

genes like me logo Genes that share pathways with MRPS12: view

Gene Ontology (GO) - Biological Process for MRPS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA --
GO:0032543 mitochondrial translation ISS 11402041
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS12: view

No data available for SIGNOR curated interactions for MRPS12 Gene

Drugs & Compounds for MRPS12 Gene

(1) Drugs for MRPS12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MRPS12: view

Transcripts for MRPS12 Gene

Unigene Clusters for MRPS12 Gene

Mitochondrial ribosomal protein S12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS12 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c
SP1: -

Relevant External Links for MRPS12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MRPS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPS12 Gene

Protein differential expression in normal tissues from HIPED for MRPS12 Gene

This gene is overexpressed in Breast (19.5), Lung (10.6), Pancreas (10.0), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRPS12 Gene

Protein tissue co-expression partners for MRPS12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPS12 Gene:


SOURCE GeneReport for Unigene cluster for MRPS12 Gene:


Evidence on tissue expression from TISSUES for MRPS12 Gene

  • Intestine(4.3)
  • Skin(4.2)
  • Nervous system(4.2)
  • Liver(4.1)
  • Pancreas(3.2)
genes like me logo Genes that share expression patterns with MRPS12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS12 Gene

Orthologs for MRPS12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPS12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MRPS12 33 34
  • 98.55 (n)
(Bos Taurus)
Mammalia MRPS12 33 34
  • 84.78 (n)
(Rattus norvegicus)
Mammalia Mrps12 33
  • 83.82 (n)
(Canis familiaris)
Mammalia MRPS12 33 34
  • 83.57 (n)
(Mus musculus)
Mammalia Mrps12 33 16 34
  • 83.09 (n)
(Monodelphis domestica)
Mammalia MRPS12 34
  • 65 (a)
(Gallus gallus)
Aves MRPS12 33 34
  • 79.17 (n)
(Anolis carolinensis)
Reptilia MRPS12 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps12 33
  • 73.03 (n)
Str.8460 33
African clawed frog
(Xenopus laevis)
Amphibia mrps12-prov 33
(Danio rerio)
Actinopterygii si:dkey-17e16.10 33
  • 67.54 (n)
MRPS12 (1 of 2) 34
  • 66 (a)
MRPS12 (2 of 2) 34
  • 60 (a)
Dr.18218 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13724 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013102 33
  • 61.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta tko 35 33 34
  • 59.74 (n)
(Caenorhabditis elegans)
Secernentea mrps-12 33 34
  • 51.89 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL222W 33
  • 57.62 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRPS12 33 34 36
  • 49.85 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07007g 33
  • 48.06 (n)
(Oryza sativa)
Liliopsida Os04g0234750 33
  • 48.75 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06542 33
  • 52.92 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC4F8.06 33
  • 45.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
Species where no ortholog for MRPS12 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 MRPS12 Gene

Gene Tree for MRPS12 (if available)
Gene Tree for MRPS12 (if available)

Paralogs for MRPS12 Gene

No data available for Paralogs for MRPS12 Gene

Variants for MRPS12 Gene

Sequence variations from dbSNP and Humsavar for MRPS12 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs145754412 Pathogenic 38,930,707(+) AAAGG(C/T)CACAA upstream-variant-2KB, reference, stop-gained
rs138274440 Likely benign 38,930,646(+) TCTCC(C/G/T)TGGAC upstream-variant-2KB, reference, synonymous-codon
rs34264048 Likely benign 38,930,634(+) TGTAG(C/T)GAAAC upstream-variant-2KB, reference, missense
rs142446687 Uncertain significance 38,930,601(+) ATACT(C/T)GTACA upstream-variant-2KB, reference, missense
rs34050897 Uncertain significance 38,930,489(+) CCGCC(A/G)AGCGC upstream-variant-2KB, reference, missense

Variation tolerance for MRPS12 Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.79; 47.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRPS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPS12 Gene

Disorders for MRPS12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPS12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber optic atrophy
  • leber hereditary optic neuropathy
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPS12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MRPS12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPS12 Gene

Publications for MRPS12 Gene

  1. Characterization of the human mitochondrial ribosomal S12 gene. (PMID: 9790755) Johnson DF … Fischel-Ghodsian N (Genomics 1998) 2 3 4 22 60
  2. Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus. (PMID: 9545647) Shah ZH … Jacobs HT (Genomics 1998) 2 3 22 60
  3. Metazoan nuclear genes for mitoribosomal protein S12. (PMID: 9434165) Shah ZH … Jacobs HT (Gene 1997) 3 4 22 60
  4. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 3 4 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for MRPS12 Gene

Sources for MRPS12 Gene

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