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... See more...

Aliases for MRPL2 Gene

Aliases for MRPL2 Gene

  • Mitochondrial Ribosomal Protein L2 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL2m 3 4
  • 39S Ribosomal Protein L2, Mitochondrial 3 4
  • MRP-L2 3 4
  • L2mt 3 4
  • MRP-L14 3
  • CGI-22 3
  • RPML14 3

External Ids for MRPL2 Gene

Previous GeneCards Identifiers for MRPL2 Gene

  • GC06M043023
  • GC06M043068
  • GC06M043129
  • GC06M042738
  • GC06M043021

Summaries for MRPL2 Gene

Entrez Gene Summary for MRPL2 Gene

  • 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]

GeneCards Summary for MRPL2 Gene

MRPL2 (Mitochondrial Ribosomal Protein L2) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome. An important paralog of this gene is RPL8.

Additional gene information for MRPL2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL2 Gene

Genomics for MRPL2 Gene

GeneHancer (GH) Regulatory Elements for MRPL2 Gene

Promoters and enhancers for MRPL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J043058 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.0 32 3.9 ZBTB40 SP1 SIX5 FOXA1 RBPJ SMARCE1 POLR2A USF2 NR2F1 NR2F6 MRPL2 KLC4 ZNF318 POLH GTPBP2 ABCC10 XPO5 UBR2 CUL7 POLR1C
GH06J042819 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 10.8 +239.2 239160 2.9 RAD21 ZNF652 PRDM1 CEBPB CTCF BICRAL RPL7L1 RNU6-890P KLC4 MRPL2 PPP2R5D KLHDC3 MEA1 RF00017-5550 RF00017-5553
GH06J043246 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 5.5 -187.0 -187015 2.4 ZBTB40 SIX5 NR2F6 ATF1 CREB1 HCFC1 NFYC ELF1 L3MBTL2 HDGF ZNF318 POLR1C POLH CUL9 XPO5 RPL7L1 ENSG00000219470 ABCC10 GTPBP2 TTBK1
GH06J043266 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 5.4 -213.3 -213266 13.1 GTF3C2 FOXA1 LCORL MLX RBPJ SMARCE1 NR2F1 NR2F6 MIXL1 ZNF133 POLH ZNF318 ABCC10 GTPBP2 POLR1C ENSG00000219470 CUL9 CUL7 RRP36 XPO5
GH06J043265 Enhancer 0.7 Ensembl dbSUPER 5.4 -204.8 -204815 0.8 KAT7 ZBTB20 ZGPAT ZFP64 KLF16 YY1 MRPL2 LOC105375064 TTBK1 RF00017-5562 RF00017-5558
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL2 gene promoter:
  • Bach2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GR
  • GR-alpha
  • Sox5

Genomic Locations for MRPL2 Gene

Genomic Locations for MRPL2 Gene
chr6:43,054,029-43,060,186
(GRCh38/hg38)
Size:
6,158 bases
Orientation:
Minus strand
chr6:43,021,767-43,027,544
(GRCh37/hg19)
Size:
5,778 bases
Orientation:
Minus strand

Genomic View for MRPL2 Gene

Genes around MRPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL2 Gene

Proteins for MRPL2 Gene

  • Protein details for MRPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T653-RM02_HUMAN
    Recommended name:
    39S ribosomal protein L2, mitochondrial
    Protein Accession:
    Q5T653
    Secondary Accessions:
    • B2RC56
    • Q8WUL1
    • Q96Q56
    • Q9Y311

    Protein attributes for MRPL2 Gene

    Size:
    305 amino acids
    Molecular mass:
    33301 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.
    SequenceCaution:
    • Sequence=AAD27731.1; Type=Frameshift; Positions=274, 283; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL2 Gene

neXtProt entry for MRPL2 Gene

Post-translational modifications for MRPL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL2 Gene

No data available for DME Specific Peptides for MRPL2 Gene

Domains & Families for MRPL2 Gene

Gene Families for MRPL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Ribosomal proteins

Suggested Antigen Peptide Sequences for MRPL2 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L2, mitochondrial (RM02_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5T653

UniProtKB/Swiss-Prot:

RM02_HUMAN :
  • Belongs to the universal ribosomal protein uL2 family.
Family:
  • Belongs to the universal ribosomal protein uL2 family.
genes like me logo Genes that share domains with MRPL2: view

Function for MRPL2 Gene

Gene Ontology (GO) - Molecular Function for MRPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
genes like me logo Genes that share ontologies with MRPL2: view
genes like me logo Genes that share phenotypes with MRPL2: view

Animal Model Products

CRISPR Products

miRNA for MRPL2 Gene

miRTarBase miRNAs that target MRPL2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL2 Gene

Localization for MRPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPL2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL2: view

Pathways & Interactions for MRPL2 Gene

genes like me logo Genes that share pathways with MRPL2: view

Gene Ontology (GO) - Biological Process for MRPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0032543 mitochondrial translation IBA 21873635
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL2: view

No data available for SIGNOR curated interactions for MRPL2 Gene

Drugs & Compounds for MRPL2 Gene

No Compound Related Data Available

Transcripts for MRPL2 Gene

mRNA/cDNA for MRPL2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - - - - - -
SP6: -
SP7:

Relevant External Links for MRPL2 Gene

GeneLoc Exon Structure for
MRPL2
ECgene alternative splicing isoforms for
MRPL2

Expression for MRPL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MRPL2 Gene

This gene is overexpressed in Breast (30.3) and Pancreas (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL2 Gene



Protein tissue co-expression partners for MRPL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL2 Gene:

MRPL2

SOURCE GeneReport for Unigene cluster for MRPL2 Gene:

Hs.55041

Evidence on tissue expression from TISSUES for MRPL2 Gene

  • Skin(4.2)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with MRPL2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL2 Gene

Orthologs for MRPL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRPL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL2 33 32
  • 99.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL2 33 32
  • 88.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL2 33 32
  • 88.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl2 32
  • 85.7 (n)
mouse
(Mus musculus)
Mammalia Mrpl2 17 33 32
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL2 33
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL2 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL2 33 32
  • 73.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL2 33
  • 70 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21075 32
zebrafish
(Danio rerio)
Actinopterygii MRPL2 33
  • 68 (a)
OneToOne
im:6908224 32
  • 67.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8536 32
fruit fly
(Drosophila melanogaster)
Insecta mRpL2 33 34 32
  • 56.86 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010450 32
  • 54.15 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-2 33 32
  • 50.57 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RML2 33
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 29 (a)
OneToOne
Species where no ortholog for MRPL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MRPL2 Gene

ENSEMBL:
Gene Tree for MRPL2 (if available)
TreeFam:
Gene Tree for MRPL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL2: view image

Paralogs for MRPL2 Gene

Paralogs for MRPL2 Gene

Pseudogenes.org Pseudogenes for MRPL2 Gene

genes like me logo Genes that share paralogs with MRPL2: view

Variants for MRPL2 Gene

Sequence variations from dbSNP and Humsavar for MRPL2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs369727378 uncertain-significance, Three M syndrome 43,053,911(-) G/A/C downstream_transcript_variant
rs3737186 likely-benign, Three M syndrome 43,053,781(-) G/A downstream_transcript_variant
rs377101095 uncertain-significance, Three M syndrome 43,053,882(-) T/C downstream_transcript_variant
rs754072990 uncertain-significance, Three M syndrome 43,053,885(-) G/A/C downstream_transcript_variant
rs80311039 uncertain-significance, Three M syndrome 43,053,913(-) C/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL2 Gene

Variant ID Type Subtype PubMed ID
dgv10640n54 CNV loss 21841781
nsv1017398 CNV gain 25217958
nsv462927 CNV loss 19166990
nsv462930 CNV loss 19166990
nsv602992 CNV loss 21841781

Variation tolerance for MRPL2 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL2 Gene

Disorders for MRPL2 Gene

Additional Disease Information for MRPL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MRPL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL2 Gene

Publications for MRPL2 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 56
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 56

Products for MRPL2 Gene

Sources for MRPL2 Gene