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Aliases for PXMP2 Gene

Aliases for PXMP2 Gene

  • Peroxisomal Membrane Protein 2 2 3 5
  • Peroxisomal Membrane Protein 2, 22kDa 2 3
  • 22 KDa Peroxisomal Membrane Protein 3 4
  • PMP22 3 4
  • Peroxisomal Membrane Protein 2 (22kD) 2

External Ids for PXMP2 Gene

Previous GeneCards Identifiers for PXMP2 Gene

  • GC00U990301
  • GC12M132864
  • GC12P132889
  • GC12P131503
  • GC12P131874
  • GC12P131774
  • GC12P133264

Summaries for PXMP2 Gene

GeneCards Summary for PXMP2 Gene

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

UniProtKB/Swiss-Prot for PXMP2 Gene

  • Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PXMP2 Gene

Genomics for PXMP2 Gene

Regulatory Elements for PXMP2 Gene

Enhancers for PXMP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F132600 0.8 FANTOM5 Ensembl ENCODE 12.3 -85.2 -85167 4.8 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF143 POLE ZNF140 GOLGA3 EP400 ZNF10 P2RX2 ZNF26 PXMP2 ENSG00000256632 DDX51
GH12F132608 0.7 ENCODE 12.3 -79.1 -79147 0.1 ELF3 MLX THRB ZNF48 RARA YY1 ZNF121 CREM MIXL1 HMG20B ENSG00000256632 POLE PXMP2 LRCOL1 LOC105370094
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PXMP2 on UCSC Golden Path with GeneCards custom track

Promoters for PXMP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000439723 94 3801 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 KLF13

Genomic Location for PXMP2 Gene

Chromosome:
12
Start:
132,687,606 bp from pter
End:
132,704,991 bp from pter
Size:
17,386 bases
Orientation:
Plus strand

Genomic View for PXMP2 Gene

Genes around PXMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PXMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PXMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PXMP2 Gene

Proteins for PXMP2 Gene

  • Protein details for PXMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR77-PXMP2_HUMAN
    Recommended name:
    Peroxisomal membrane protein 2
    Protein Accession:
    Q9NR77

    Protein attributes for PXMP2 Gene

    Size:
    195 amino acids
    Molecular mass:
    22253 Da
    Quaternary structure:
    • Interacts with PEX19 and SIVA1.

neXtProt entry for PXMP2 Gene

Post-translational modifications for PXMP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PXMP2 Gene

No data available for DME Specific Peptides for PXMP2 Gene

Domains & Families for PXMP2 Gene

Protein Domains for PXMP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PXMP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NR77

UniProtKB/Swiss-Prot:

PXMP2_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 PXMP2: view

No data available for Gene Families for PXMP2 Gene

Function for PXMP2 Gene

Molecular function for PXMP2 Gene

UniProtKB/Swiss-Prot Function:
Seems to be involved in pore-forming activity and may contribute to the unspecific permeability of the peroxisomal membrane.

Gene Ontology (GO) - Molecular Function for PXMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11590176
genes like me logo Genes that share ontologies with PXMP2: view
genes like me logo Genes that share phenotypes with PXMP2: view

Animal Models for PXMP2 Gene

MGI Knock Outs for PXMP2:

Animal Model Products

  • Taconic Biosciences Mouse Models for PXMP2

miRNA for PXMP2 Gene

miRTarBase miRNAs that target PXMP2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PXMP2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PXMP2 Gene

Localization for PXMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PXMP2 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PXMP2 Gene COMPARTMENTS Subcellular localization image for PXMP2 gene
Compartment Confidence
peroxisome 5
mitochondrion 3
extracellular 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PXMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 8624723
GO:0005777 peroxisome IEA --
GO:0005778 peroxisomal membrane IEA,IDA 11590176
GO:0005779 integral component of peroxisomal membrane IBA --
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with PXMP2: view

Pathways & Interactions for PXMP2 Gene

SuperPathways for PXMP2 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PXMP2: view

Pathways by source for PXMP2 Gene

1 KEGG pathway for PXMP2 Gene

Gene Ontology (GO) - Biological Process for PXMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PXMP2: view

No data available for SIGNOR curated interactions for PXMP2 Gene

Transcripts for PXMP2 Gene

Unigene Clusters for PXMP2 Gene

Peroxisomal membrane protein 2, 22kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PXMP2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PXMP2 Gene

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

Relevant External Links for PXMP2 Gene

GeneLoc Exon Structure for
PXMP2
ECgene alternative splicing isoforms for
PXMP2

Expression for PXMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PXMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PXMP2 Gene

This gene is overexpressed in Liver (x10.0).

Protein differential expression in normal tissues from HIPED for PXMP2 Gene

This gene is overexpressed in Liver (28.8) and Gallbladder (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PXMP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PXMP2 Gene:

PXMP2

SOURCE GeneReport for Unigene cluster for PXMP2 Gene:

Hs.430299
genes like me logo Genes that share expression patterns with PXMP2: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PXMP2 Gene

Orthologs for PXMP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PXMP2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia PXMP2 34 35
  • 85.59 (n)
cow
(Bos Taurus)
Mammalia PXMP2 34 35
  • 83.93 (n)
rat
(Rattus norvegicus)
Mammalia Pxmp2 34
  • 80.76 (n)
mouse
(Mus musculus)
Mammalia Pxmp2 34 16 35
  • 79.97 (n)
oppossum
(Monodelphis domestica)
Mammalia PXMP2 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PXMP2 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pxmp2 34
  • 62.57 (n)
Str.5981 34
zebrafish
(Danio rerio)
Actinopterygii pxmp2 34 35
  • 58.6 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6157 34
fruit fly
(Drosophila melanogaster)
Insecta CG7970 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYM1 35
  • 26 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G19750 34
  • 46.75 (n)
Species where no ortholog for PXMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PXMP2 Gene

ENSEMBL:
Gene Tree for PXMP2 (if available)
TreeFam:
Gene Tree for PXMP2 (if available)

Paralogs for PXMP2 Gene

Paralogs for PXMP2 Gene

(1) SIMAP similar genes for PXMP2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PXMP2: view

Variants for PXMP2 Gene

Sequence variations from dbSNP and Humsavar for PXMP2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs202220778 Likely benign 132,687,300(+) CCCGC(C/G)GCTCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs878854890 Likely benign 132,687,245(-) AGGGG(C/T)GCCCT intron-variant, upstream-variant-2KB
rs534524789 Uncertain significance 132,687,321(+) GGAGC(C/T)GTTGG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs780436496 Uncertain significance 132,687,265(+) GCCTC(C/G)CCATC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs878854847 Uncertain significance 132,687,315(-) GCTCC(A/T)TGTCT nc-transcript-variant, upstream-variant-2KB, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PXMP2 Gene

Variant ID Type Subtype PubMed ID
dgv3053n54 CNV loss 21841781
dgv3054n54 CNV gain 21841781
dgv3055n54 CNV loss 21841781
dgv3056n54 CNV loss 21841781
esv2422284 CNV deletion 17116639
esv24887 CNV gain+loss 19812545
esv25236 CNV gain 19812545
esv2747033 CNV deletion 23290073
esv2747034 CNV deletion 23290073
esv3631309 CNV gain 21293372
nsv1037074 CNV gain 25217958
nsv1047500 CNV gain 25217958
nsv512304 CNV loss 21212237
nsv512305 CNV loss 21212237
nsv561114 CNV loss 21841781
nsv561118 CNV loss 21841781
nsv820594 CNV deletion 20802225
nsv952512 CNV deletion 24416366

Variation tolerance for PXMP2 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PXMP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PXMP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PXMP2 Gene

Disorders for PXMP2 Gene

Relevant External Links for PXMP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PXMP2

No disorders were found for PXMP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PXMP2 Gene

Publications for PXMP2 Gene

  1. Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes. (PMID: 11590176) Brosius U. … Gaertner J. (J. Biol. Chem. 2002) 2 3 4 22 64
  2. The zinc containing pro-apoptotic protein siva interacts with the peroxisomal membrane protein pmp22. (PMID: 16683188) Nestler M. … Munder T. (Mol. Cell. Biochem. 2006) 3 4 64
  3. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PMID: 10704444) Sacksteder K.A. … Gould S.J. (J. Cell Biol. 2000) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for PXMP2 Gene

Sources for PXMP2 Gene

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