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

Gene ID: 51069, updated on 7-Jun-2020

Summary

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
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
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

Genomic context

See MRPL2 in Genome Data Viewer
Location:
6p21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43054029..43060180, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43021767..43028259, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene Neighboring gene cullin 7 Neighboring gene kinesin light chain 4 Neighboring gene uncharacterized LOC112267958 Neighboring gene protein tyrosine kinase 7 (inactive)

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001300848.2NP_001287777.1  39S ribosomal protein L2, mitochondrial 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/Swiss-Prot
    Q5T653
    UniProtKB/TrEMBL
    C9IY40
    Related
    ENSP00000230413.5, ENST00000230413.9
    Conserved Domains (2) summary
    pfam00181
    Location:84163
    Ribosomal_L2; Ribosomal Proteins L2, RNA binding domain
    pfam03947
    Location:179212
    Ribosomal_L2_C; Ribosomal Proteins L2, C-terminal domain
  2. NM_015950.5NP_057034.2  39S ribosomal protein L2, mitochondrial 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
    Q5T653
    Related
    ENSP00000373404.3, ENST00000388752.8
    Conserved Domains (1) summary
    cl27214
    Location:77270
    Ribosomal_L2_C; Ribosomal Proteins L2, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    43054029..43060180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249161.5XP_005249218.1  39S ribosomal protein L2, mitochondrial isoform X1

    Conserved Domains (2) summary
    pfam00181
    Location:52131
    Ribosomal_L2; Ribosomal Proteins L2, RNA binding domain
    pfam03947
    Location:147259
    Ribosomal_L2_C; Ribosomal Proteins L2, C-terminal domain
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