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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 Autosomal Dominant Nonsyndromic Deafness and Nonsyndromic Deafness. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include 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

GeneHancer (GH) Regulatory Elements for MRPS12 Gene

Promoters and enhancers for MRPS12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I038928 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.5 -545 4 CLOCK DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 NFYC ZC3H11A SARS2 MRPS12 HNRNPL SUPT5H FBL FBXO17 PAF1 RN7SL566P PAK4 ENSG00000269688
GH19I038673 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 1.6 -235.7 -235662 42 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF548 SP3 ENSG00000267375 HNRNPL ZNF573 ZNF607 ACTN4 SUPT5H ENSG00000269688 PAF1 CAPN12 PAK4
GH19I038932 Enhancer 0.6 ENCODE 0.8 +2.4 2428 0.2 ZBTB10 CTCF FOXA2 TRIM22 REST RAD21 NFIL3 ZBTB33 SETDB1 PIR45188 SARS2 MRPS12 ENSG00000269547
GH19I038919 Enhancer 1.2 FANTOM5 ENCODE 0.4 -10.4 -10407 1.5 ZNF48 YY2 ZNF662 GMEB1 ZNF184 ZSCAN16 NBN ZNF300 ZNF785 ZNF112 SUPT5H FBL HNRNPL SARS2 PAF1 RPS16 ERVK9-11 ENSG00000269688 RN7SL566P PAK4
GH19I038918 Enhancer 0.7 ENCODE 0.4 -12.3 -12312 0.2 ELF3 ZNF263 CTCF FOXA2 ZNF189 FOXA3 RAD21 RARA ZNF148 POLR2A CCER2 SARS2 MRPS12 ENSG00000269547
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPS12 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MRPS12 Gene

Genomic Locations for MRPS12 Gene
chr19:38,930,548-38,933,162
(GRCh38/hg38)
Size:
2,615 bases
Orientation:
Plus strand
chr19:39,421,188-39,423,802
(GRCh37/hg19)

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:
    O15235-RT12_HUMAN
    Recommended name:
    28S ribosomal protein S12, mitochondrial
    Protein Accession:
    O15235
    Secondary Accessions:
    • Q53X98

    Protein attributes for MRPS12 Gene

    Size:
    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

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

HGNC:
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

O15235

UniProtKB/Swiss-Prot:

RT12_HUMAN :
  • Belongs to the universal ribosomal protein uS12 family.
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 HDA 22681889
GO:0003735 structural constituent of ribosome TAS,ISS 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

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 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: -
SP2:
SP3:

Relevant External Links for MRPS12 Gene

GeneLoc Exon Structure for
MRPS12
ECgene alternative splicing isoforms for
MRPS12

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:

MRPS12

SOURCE GeneReport for Unigene cluster for MRPS12 Gene:

Hs.411125

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
chimpanzee
(Pan troglodytes)
Mammalia MRPS12 33 34
  • 98.55 (n)
cow
(Bos Taurus)
Mammalia MRPS12 34 33
  • 84.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrps12 33
  • 83.82 (n)
dog
(Canis familiaris)
Mammalia MRPS12 33 34
  • 83.57 (n)
mouse
(Mus musculus)
Mammalia Mrps12 33 16 34
  • 83.09 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPS12 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPS12 33 34
  • 79.17 (n)
lizard
(Anolis carolinensis)
Reptilia MRPS12 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps12 33
  • 73.03 (n)
Str.8460 33
African clawed frog
(Xenopus laevis)
Amphibia mrps12-prov 33
zebrafish
(Danio rerio)
Actinopterygii si:dkey-17e16.10 33
  • 67.54 (n)
MRPS12 (1 of 2) 34
  • 66 (a)
OneToMany
MRPS12 (2 of 2) 34
  • 60 (a)
OneToMany
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)
worm
(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)
rice
(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)
OneToOne
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

ENSEMBL:
Gene Tree for MRPS12 (if available)
TreeFam:
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 Variation AA Info Type
rs34050897 benign, uncertain-significance, not specified, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,930,489(+) G/A upstream_transcript_variant
rs34264048 benign, likely-benign, not specified, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,930,634(+) T/C upstream_transcript_variant
rs554221329 uncertain-significance, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,930,842(+) T/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs730078 benign, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,930,748(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs773524954 uncertain-significance, Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 38,930,693(+) C/G upstream_transcript_variant

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)

Additional Variant Information for MRPS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS12

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
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPS12

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 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 58
  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 58
  3. Metazoan nuclear genes for mitoribosomal protein S12. (PMID: 9434165) Shah ZH … Jacobs HT (Gene 1997) 3 4 22 58
  4. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for MRPS12 Gene

Sources for MRPS12 Gene

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