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    MRPS2 mitochondrial ribosomal protein S2 [ Homo sapiens (human) ]

    Gene ID: 51116, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MRPS2provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S2provided by HGNC
    Primary source
    HGNC:HGNC:14495
    See related
    Ensembl:ENSG00000122140 MIM:611971; AllianceGenome:HGNC:14495
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S2mt; uS2m; CGI-91; MRP-S2; COXPD36
    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% 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 S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
    Expression
    Ubiquitous expression in kidney (RPKM 13.4), ovary (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS2 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135499965..135504673)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147728043..147732751)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (138391811..138396519)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20484 Neighboring gene protein phosphatase 1 regulatory subunit 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138380833-138381544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382256-138382966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138382967-138383677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20485 Neighboring gene piercer of microtubule wall 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20487 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:138392753-138393377 Neighboring gene uncharacterized LOC101928525 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:138396029-138396183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138397212-138398185 Neighboring gene NANOG hESC enhancer GRCh37_chr9:138403278-138403841 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138406747-138407428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138408918-138409418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138409419-138409919 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:138416151-138417034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:138418857-138419510 Neighboring gene lipocalin 1 Neighboring gene odorant binding protein 2A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Gardeitchik T, et al. Am J Hum Genet, 2018 Apr 5. PMID 29576219, Free PMC Article
    2. A large set of estrogen receptor β-interacting proteins identified by tandem affinity purification in hormone-responsive human breast cancer cell nuclei. Nassa G, et al. Proteomics, 2011 Jan. PMID 21182203
    3. Role of the E3 ubiquitin ligase RNF157 as a novel downstream effector linking PI3K and MAPK signaling pathways to the cell cycle. Dogan T, et al. J Biol Chem, 2017 Sep 1. PMID 28655764, Free PMC Article
    4. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    5. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The identification of MRPS2 as an additional gene related to mitochondrial disease further expands the genetic and phenotypic spectra of Oxidative phosphorylation deficiencies caused by impaired mitochondrial translation.
      Title: Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 36
    MedGen: C4693722 OMIM: 617950 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial ribosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial small ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial small ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial small ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    part_of mitochondrial small ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    small ribosomal subunit protein uS2m
    Names
    28S ribosomal protein S2, mitochondrial
    mitochondrial small ribosomal subunit protein uS2m

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_042313.1 RefSeqGene

      Range
      5052..9041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001371401.1 → NP_001358330.1  small ribosomal subunit protein uS2m

      Status: REVIEWED

      Source sequence(s)
      AL161452
      Consensus CDS
      CCDS6990.1
      UniProtKB/Swiss-Prot
      Q5T899, Q9BSQ4, Q9Y399
      Related
      ENSP00000360850.1, ENST00000371785.5
      Conserved Domains (1) summary
      cd01425
      Location:84 → 259
      RPS2; Ribosomal protein S2 (RPS2), involved in formation of the translation initiation complex, where it might contact the messenger RNA and several components of the ribosome. It has been shown that in Escherichia coli RPS2 is essential for the binding of ...

    2. NM_016034.5 → NP_057118.1  small ribosomal subunit protein uS2m

      See identical proteins and their annotated locations for NP_057118.1

      Status: REVIEWED

      Source sequence(s)
      BQ065672, BX362434
      Consensus CDS
      CCDS6990.1
      UniProtKB/Swiss-Prot
      Q5T899, Q9BSQ4, Q9Y399
      Related
      ENSP00000241600.5, ENST00000241600.10
      Conserved Domains (1) summary
      cd01425
      Location:84 → 259
      RPS2; Ribosomal protein S2 (RPS2), involved in formation of the translation initiation complex, where it might contact the messenger RNA and several components of the ribosome. It has been shown that in Escherichia coli RPS2 is essential for the binding of ...

    RNA

    1. NR_051967.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161452
      Related
      ENST00000485333.6

    2. NR_051968.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161452
      Related
      ENST00000488610.6

    3. NR_051969.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161452
      Related
      ENST00000462948.6

    4. NR_051970.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL161452
      Related
      ENST00000472852.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      135499965..135504673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      147728043..147732751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y399.1 GenPept UniProtKB/Swiss-Prot:Q9Y399

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