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    MRPS22 mitochondrial ribosomal protein S22 [ Homo sapiens (human) ]

    Gene ID: 56945, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPS22provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein S22provided by HGNC
    Primary source
    HGNC:HGNC:14508
    See related
    Ensembl:ENSG00000175110 MIM:605810; AllianceGenome:HGNC:14508
    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
    GIBT; ODG7; mS22; GK002; C3orf5; COXPD5; RPMS22; MRP-S22
    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 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]
    Expression
    Ubiquitous expression in adrenal (RPKM 27.8), testis (RPKM 18.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPS22 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139343994..139357140)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142091547..142104693)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139062836..139075982)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906290 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139002206-139002397 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139008074-139008302 Neighboring gene uncharacterized LOC124909439 Neighboring gene Sharpr-MPRA regulatory region 3993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20611 Neighboring gene COPI coat complex subunit beta 2 Neighboring gene uncharacterized LOC124906339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:139108213-139108774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:139108775-139109337 Neighboring gene COPB2 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 Neighboring gene retinol binding protein 2

    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. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. Saada A, et al. J Med Genet, 2007 Dec. PMID 17873122, Free PMC Article
    2. A patient with mitochondrial disorder due to a novel mutation in MRPS22. Kılıç M, et al. Metab Brain Dis, 2017 Oct. PMID 28752220
    3. The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Emdadul Haque M, et al. Mitochondrion, 2008 Jun. PMID 18539099, Free PMC Article
    4. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. Melka MG, et al. J Clin Endocrinol Metab, 2012 Jan. PMID 22013104
    5. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Chen A, et al. Hum Mol Genet, 2018 Jun 1. PMID 29566152, Free PMC Article

    See all (151) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of Primary ovarian insufficiency in adolescents.
      Title: Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
    2. hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22
      Title: A patient with mitochondrial disorder due to a novel mutation in MRPS22.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    4. The effect of mutated MRPS22 on the assembly of the small and large ribosomal subunits in human mitochondria is reported.
      Title: The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.
    5. A mutation in the MRPS22 gene led to reduction of 12sRNA in fibroblasts and fatal neonatal hypertrophic cardiomyopathy & kidney tubulopathy.
      Title: Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
    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
    Hypotonia with lactic acidemia and hyperammonemia
    MedGen: C2673642 OMIM: 611719 GeneReviews: Not available
    		Compare labs
    Ovarian dysgenesis 7
    MedGen: C4748263 OMIM: 618117 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    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 ribosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 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 mS22
    Names
    28S ribosomal protein S22, mitochondrial
    S22mt
    mitochondrial small ribosomal subunit protein mS22

    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_012174.1 RefSeqGene

      Range
      5002..18111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363857.1 → NP_001350786.1  small ribosomal subunit protein mS22 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC024933
      UniProtKB/TrEMBL
      G5E9W7
      Related
      ENSP00000419303.2, ENST00000478464.6
      Conserved Domains (1) summary
      pfam10245
      Location:27 → 268
      MRP-S22; Mitochondrial 28S ribosomal protein S22

    2. NM_001363893.1 → NP_001350822.1  small ribosomal subunit protein mS22 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AC024933
      Consensus CDS
      CCDS87143.1
      UniProtKB/TrEMBL
      A0A7P0MKV3, A0A8I5KSY5
      Related
      ENSP00000310785.5, ENST00000310776.9
      Conserved Domains (1) summary
      pfam10245
      Location:67 → 308
      MRP-S22; Mitochondrial 28S ribosomal protein S22

    3. NM_020191.4 → NP_064576.1  small ribosomal subunit protein mS22 isoform 1

      See identical proteins and their annotated locations for NP_064576.1

      Status: REVIEWED

      Source sequence(s)
      AC024933
      Consensus CDS
      CCDS3107.1
      UniProtKB/Swiss-Prot
      P82650, Q9H3I1
      UniProtKB/TrEMBL
      A0A8I5KSY5
      Related
      ENSP00000505414.1, ENST00000680020.1
      Conserved Domains (1) summary
      pfam10245
      Location:70 → 309
      MRP-S22; Mitochondrial 28S ribosomal protein S22

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      139343994..139357140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      142091547..142104693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82650.1 GenPept UniProtKB/Swiss-Prot:P82650

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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