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Aliases for MPV17L2 Gene

Aliases for MPV17L2 Gene

  • MPV17 Mitochondrial Inner Membrane Protein Like 2 2 3 5
  • FKSG24 3 4
  • MPV17 Mitochondrial Membrane Protein-Like 2 3
  • Mpv17-Like Protein 2 3

External Ids for MPV17L2 Gene

Previous GeneCards Identifiers for MPV17L2 Gene

  • GC19P018167
  • GC19P018304
  • GC19P017867
  • GC19P018421

Summaries for MPV17L2 Gene

GeneCards Summary for MPV17L2 Gene

MPV17L2 (MPV17 Mitochondrial Inner Membrane Protein Like 2) is a Protein Coding gene. Among its related pathways are Peroxisome. An important paralog of this gene is PXMP2.

UniProtKB/Swiss-Prot for MPV17L2 Gene

  • Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607).

Additional gene information for MPV17L2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPV17L2 Gene

Genomics for MPV17L2 Gene

GeneHancer (GH) Regulatory Elements for MPV17L2 Gene

Promoters and enhancers for MPV17L2 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
GH19I018191 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 559.5 +0.2 194 4.1 HDGF PKNOX1 ARNT ARID4B NEUROD1 SIN3A ZNF2 YY1 SLC30A9 POLR2B MPV17L2 PDE4C IQCN UPF1 ENSG00000268030 COLGALT1 FCHO1 ELL IL12RB1 ARRDC2
GH19I018168 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.6 -21.3 -21259 7.4 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B IFI30 MPV17L2 LRRC25 ENSG00000268938 MEF2B MVB12A ENSG00000268030 PGLS UPF1 ENSG00000269191
GH19I018223 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.6 +31.7 31685 2.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 POLR2B ZNF213 E2F8 PDE4C IQCN MPV17L2 PLVAP LSM4 LOC102725254 LOC729966
GH19I018277 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.5 +87.4 87446 6.4 MLX FEZF1 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC JUND GC19P020223 PIR55689 MIR3188 IQCN UPF1 ENSG00000268030 ENSG00000268938 NR2C2AP ENSG00000269191
GH19I018150 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.8 -40.4 -40390 4.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ENSG00000269145 PIK3R2 ENSG00000268173 PDE4C ENSG00000268030 UPF1 ENSG00000268938 COLGALT1 ENSG00000269191 GTPBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MPV17L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPV17L2 gene promoter:

Genomic Locations for MPV17L2 Gene

Genomic Locations for MPV17L2 Gene
chr19:18,193,182-18,196,948
(GRCh38/hg38)
Size:
3,767 bases
Orientation:
Plus strand
chr19:18,303,992-18,307,758
(GRCh37/hg19)

Genomic View for MPV17L2 Gene

Genes around MPV17L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPV17L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPV17L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPV17L2 Gene

Proteins for MPV17L2 Gene

  • Protein details for MPV17L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q567V2-M17L2_HUMAN
    Recommended name:
    Mpv17-like protein 2
    Protein Accession:
    Q567V2
    Secondary Accessions:
    • Q96P34
    • Q96QA0
    • Q9BSG4

    Protein attributes for MPV17L2 Gene

    Size:
    206 amino acids
    Molecular mass:
    23180 Da
    Quaternary structure:
    • Interacts with the large mitochondrial ribosomal subunit.

    Alternative splice isoforms for MPV17L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPV17L2 Gene

Post-translational modifications for MPV17L2 Gene

No Post-translational modifications

Other Protein References for MPV17L2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MPV17L2 Gene

Domains & Families for MPV17L2 Gene

Gene Families for MPV17L2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MPV17L2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MPV17L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q567V2

UniProtKB/Swiss-Prot:

M17L2_HUMAN :
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
Family:
  • Belongs to the peroxisomal membrane protein PXMP2/4 family.
genes like me logo Genes that share domains with MPV17L2: view

Function for MPV17L2 Gene

Molecular function for MPV17L2 Gene

UniProtKB/Swiss-Prot Function:
Required for the assembly and stability of the mitochondrial ribosome (PubMed:24948607). Is a positive regulator of mitochondrial protein synthesis (PubMed:24948607).

Phenotypes From GWAS Catalog for MPV17L2 Gene

genes like me logo Genes that share phenotypes with MPV17L2: view

Animal Model Products

CRISPR Products

miRNA for MPV17L2 Gene

miRTarBase miRNAs that target MPV17L2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPV17L2 Gene

Localization for MPV17L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPV17L2 Gene

Membrane; Multi-pass membrane protein. Mitochondrion inner membrane.

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 MPV17L2 gene
Compartment Confidence
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MPV17L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IDA,IEA 24948607
GO:0005762 mitochondrial large ribosomal subunit IDA 24948607
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MPV17L2: view

Pathways & Interactions for MPV17L2 Gene

SuperPathways for MPV17L2 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with MPV17L2: view

Pathways by source for MPV17L2 Gene

1 KEGG pathway for MPV17L2 Gene

Interacting Proteins for MPV17L2 Gene

Selected Interacting proteins: Q567V2-M17L2_HUMAN for MPV17L2 Gene via IID

Symbol External ID(s) Details
PCNT

Gene Ontology (GO) - Biological Process for MPV17L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0061668 mitochondrial ribosome assembly IMP 24948607
GO:0070131 positive regulation of mitochondrial translation IMP 24948607
genes like me logo Genes that share ontologies with MPV17L2: view

No data available for SIGNOR curated interactions for MPV17L2 Gene

Drugs & Compounds for MPV17L2 Gene

No Compound Related Data Available

Transcripts for MPV17L2 Gene

Unigene Clusters for MPV17L2 Gene

MPV17 mitochondrial membrane protein-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPV17L2 Gene

No ASD Table

Relevant External Links for MPV17L2 Gene

GeneLoc Exon Structure for
MPV17L2
ECgene alternative splicing isoforms for
MPV17L2

Expression for MPV17L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPV17L2 Gene

Protein differential expression in normal tissues from HIPED for MPV17L2 Gene

This gene is overexpressed in Serum (26.7), Lung (18.3), and Bone (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MPV17L2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MPV17L2 Gene:

MPV17L2

SOURCE GeneReport for Unigene cluster for MPV17L2 Gene:

Hs.515254

Evidence on tissue expression from TISSUES for MPV17L2 Gene

  • Nervous system(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with MPV17L2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPV17L2 Gene

Orthologs for MPV17L2 Gene

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

Orthologs for MPV17L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPV17L2 33 34
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia MPV17L2 33 34
  • 85.71 (n)
dog
(Canis familiaris)
Mammalia MPV17L2 33 34
  • 84.93 (n)
mouse
(Mus musculus)
Mammalia Mpv17l2 33 16 34
  • 79.4 (n)
rat
(Rattus norvegicus)
Mammalia Mpv17l2 33
  • 78.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MPV17L2 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MPV17L2 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPV17L2 33 34
  • 71 (n)
lizard
(Anolis carolinensis)
Reptilia MPV17L2 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mpv17l2 33
  • 62.3 (n)
zebrafish
(Danio rerio)
Actinopterygii mpv17l2 33 34
  • 64.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001403 33
  • 50.89 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5906 33 34
  • 50.48 (n)
CG32263 34
  • 30 (a)
OneToMany
CG1662 34
  • 29 (a)
OneToMany
CG32262 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK470.1 33 34
  • 47.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYM1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for MPV17L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MPV17L2 Gene

ENSEMBL:
Gene Tree for MPV17L2 (if available)
TreeFam:
Gene Tree for MPV17L2 (if available)

Paralogs for MPV17L2 Gene

Paralogs for MPV17L2 Gene

(1) SIMAP similar genes for MPV17L2 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MPV17L2 Gene

genes like me logo Genes that share paralogs with MPV17L2: view

Variants for MPV17L2 Gene

Sequence variations from dbSNP and Humsavar for MPV17L2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000263460 -- 18,195,850(+) G/A intron_variant
rs1000830764 -- 18,194,419(+) G/T intron_variant
rs1001621223 -- 18,196,433(+) A/C 3_prime_UTR_variant
rs1003323562 -- 18,192,545(+) G/A upstream_transcript_variant
rs1003330573 -- 18,192,894(+) G/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MPV17L2 Gene

Variant ID Type Subtype PubMed ID
dgv576n67 CNV gain 20364138
esv3643833 CNV loss 21293372
esv3643834 CNV gain 21293372
nsv1160592 CNV deletion 26073780
nsv819691 CNV gain 19587683
nsv833775 CNV loss 17160897
nsv952420 CNV deletion 24416366

Variation tolerance for MPV17L2 Gene

Residual Variation Intolerance Score: 78.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.67; 82.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPV17L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPV17L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPV17L2 Gene

Disorders for MPV17L2 Gene

Additional Disease Information for MPV17L2

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

No disorders were found for MPV17L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MPV17L2 Gene

Publications for MPV17L2 Gene

  1. MPV17L2 is required for ribosome assembly in mitochondria. (PMID: 24948607) Dalla Rosa I … Spinazzola A (Nucleic acids research 2014) 2 3 4 58
  2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 44 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for MPV17L2 Gene

Sources for MPV17L2 Gene

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