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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
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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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