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    MRPL2 mitochondrial ribosomal protein L2 [ Homo sapiens (human) ]

    Gene ID: 51069, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRPL2provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L2provided by HGNC
    Primary source
    HGNC:HGNC:14056
    See related
    Ensembl:ENSG00000112651 MIM:611822; AllianceGenome:HGNC:14056
    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
    uL2m; CGI-22; RPML14; MRP-L14
    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 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in kidney (RPKM 12.6), duodenum (RPKM 11.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43054029..43059863, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42883100..42888934, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43021767..43027172, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901318 Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43013559-43013750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018382-43018882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018883-43019383 Neighboring gene cullin 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43019933-43020768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43027385-43028336 Neighboring gene Sharpr-MPRA regulatory region 10128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43038920-43039420 Neighboring gene kinesin light chain 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43043187-43043710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17218 Neighboring gene KLC4 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43049243-43049446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43050481-43051047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43051048-43051613 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43057365-43057958 Neighboring gene protein tyrosine kinase 7 (inactive) Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:43057959-43058553 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43058554-43059147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43086921-43087840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43087841-43088760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43099803-43100304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43100305-43100804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24592

    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. Mammalian mitochondrial ribosomal proteins (2). Amino acid sequencing, characterization, and identification of corresponding gene sequences. O'Brien TW, et al. J Biol Chem, 1999 Dec 17. PMID 10593885
    2. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    3. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. Kenmochi N, et al. Genomics, 2001 Sep. PMID 11543634
    4. The SARS-CoV-2 RNA interactome. Lee S, et al. Mol Cell, 2021 Jul 1. PMID 33989516, Free PMC Article
    5. Structures of the human mitochondrial ribosome in native states of assembly. Brown A, et al. Nat Struct Mol Biol, 2017 Oct. PMID 28892042, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    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
    		  
    part_of mitochondrial large ribosomal subunit IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large 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
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein uL2m
    Names
    39S ribosomal protein L2, mitochondrial
    L2mt
    MRP-L2
    mitochondrial large ribosomal subunit protein uL2m

    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.

    mRNA and Protein(s)

    1. NM_001300848.2 → NP_001287777.1  large ribosomal subunit protein uL2m isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA627551, BC013685, BM970997, HY043564
      Consensus CDS
      CCDS75458.1
      UniProtKB/TrEMBL
      C9IY40
      Related
      ENSP00000230413.5, ENST00000230413.9
      Conserved Domains (2) summary
      pfam00181
      Location:84 → 163
      Ribosomal_L2; Ribosomal Proteins L2, RNA binding domain
      pfam03947
      Location:179 → 212
      Ribosomal_L2_C; Ribosomal Proteins L2, C-terminal domain

    2. NM_015950.5 → NP_057034.2  large ribosomal subunit protein uL2m isoform 1

      See identical proteins and their annotated locations for NP_057034.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA627551, BC013685, HY043564
      Consensus CDS
      CCDS34454.1
      UniProtKB/Swiss-Prot
      B2RC56, Q5T653, Q8WUL1, Q96Q56, Q9Y311
      Related
      ENSP00000373404.3, ENST00000388752.8
      Conserved Domains (1) summary
      cl40667
      Location:67 → 270
      RplB; Ribosomal protein L2 [Translation, ribosomal structure and biogenesis]

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43054029..43059863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249161.6 → XP_005249218.1  large ribosomal subunit protein uL2m isoform X2

      Conserved Domains (2) summary
      pfam00181
      Location:52 → 131
      Ribosomal_L2; Ribosomal Proteins L2, RNA binding domain
      pfam03947
      Location:147 → 259
      Ribosomal_L2_C; Ribosomal Proteins L2, C-terminal domain

    2. XM_047418851.1 → XP_047274807.1  large ribosomal subunit protein uL2m isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42883100..42888934 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355555.1 → XP_054211530.1  large ribosomal subunit protein uL2m isoform X2

    2. XM_054355554.1 → XP_054211529.1  large ribosomal subunit protein uL2m isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T653.2 GenPept UniProtKB/Swiss-Prot:Q5T653

    Gene LinkOut

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