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

Gene ID: 51116, updated on 11-Apr-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
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Genomic context

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Location:
9q34.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (135499965..135504673)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (147728043..147732751)
105.20220307 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
  • 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 (90) 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
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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 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_2023_10

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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