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Aliases for PEX2 Gene

Aliases for PEX2 Gene

  • Peroxisomal Biogenesis Factor 2 2 3
  • PXMP3 3 4 6
  • PMP35 3 4 6
  • PAF1 3 4 6
  • Peroxisomal Membrane Protein 3, 35kDa 2 3
  • 35 KDa Peroxisomal Membrane Protein 3 4
  • Peroxisome Assembly Factor 1 3 4
  • RING Finger Protein 72 3 4
  • PBD5A 3 6
  • PBD5B 3 6
  • RNF72 3 4
  • PMP3 3 4
  • Peroxisomal Membrane Protein 3 (35kD, Zellweger Syndrome) 2
  • Peroxisome Biogenesis Factor 2 3
  • Peroxisomal Membrane Protein 3 4
  • Peroxisome Assembly Factor-1 3
  • Zellweger Syndrome 2
  • Peroxin 2 2
  • Peroxin-2 4
  • PAF-1 4
  • ZWS3 3

External Ids for PEX2 Gene

Previous HGNC Symbols for PEX2 Gene

  • PXMP3

Previous GeneCards Identifiers for PEX2 Gene

  • GC08M077892
  • GC08M073378

Summaries for PEX2 Gene

Entrez Gene Summary for PEX2 Gene

  • This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX2 Gene

PEX2 (Peroxisomal Biogenesis Factor 2) is a Protein Coding gene. Diseases associated with PEX2 include peroxisome biogenesis disorder 5a and peroxisome biogenesis disorder 5b. Among its related pathways are Chromatin Regulation / Acetylation and Peroxisome.

UniProtKB/Swiss-Prot for PEX2 Gene

  • Somewhat implicated in the biogenesis of peroxisomes

Gene Wiki entry for PEX2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX2 Gene

Genomics for PEX2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PEX2 Gene

Start:
76,980,258 bp from pter
End:
77,001,044 bp from pter
Size:
20,787 bases
Orientation:
Minus strand

Genomic View for PEX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX2 Gene

No data available for Regulatory Elements for PEX2 Gene

Proteins for PEX2 Gene

  • Protein details for PEX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28328-PEX2_HUMAN
    Recommended name:
    Peroxisome biogenesis factor 2
    Protein Accession:
    P28328
    Secondary Accessions:
    • Q567S6
    • Q9BW41

    Protein attributes for PEX2 Gene

    Size:
    305 amino acids
    Molecular mass:
    34843 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PEX2 Gene

Proteomics data for PEX2 Gene at MOPED

Post-translational modifications for PEX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX2 Gene

Domains for PEX2 Gene

Gene Families for PEX2 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Suggested Antigen Peptide Sequences for PEX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P28328

UniProtKB/Swiss-Prot:

PEX2_HUMAN :
  • P28328
Family:
  • Belongs to the pex2/pex10/pex12 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with PEX2: view

Function for PEX2 Gene

Molecular function for PEX2 Gene

UniProtKB/Swiss-Prot Function: Somewhat implicated in the biogenesis of peroxisomes

Gene Ontology (GO) - Molecular Function for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10837480
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with PEX2: view
genes like me logo Genes that share phenotypes with PEX2: view

Animal Models for PEX2 Gene

MGI Knock Outs for PEX2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PEX2 Gene

Localization for PEX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX2 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX2 Gene COMPARTMENTS Subcellular localization image for PEX2 gene
Compartment Confidence
nucleus 5
peroxisome 5
cytosol 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome --
GO:0005778 peroxisomal membrane IDA 21525035
GO:0005779 integral component of peroxisomal membrane IMP 12751901
GO:0016020 membrane IDA 19946888
GO:0016593 Cdc73/Paf1 complex IDA 18987311
genes like me logo Genes that share ontologies with PEX2: view

Pathways for PEX2 Gene

genes like me logo Genes that share pathways with PEX2: view

Pathways by source for PEX2 Gene

1 Cell Signaling Technology pathway for PEX2 Gene
1 KEGG pathway for PEX2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PEX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IMP 9765053
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 18987311
GO:0001764 neuron migration IEA --
GO:0006635 fatty acid beta-oxidation IMP 10528859
GO:0006699 bile acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with PEX2: view

Compounds for PEX2 Gene

(2) Novoseek inferred chemical compound relationships for PEX2 Gene

Compound -log(P) Hits PubMed IDs
zinc 30.4 2
lipid 0 1
genes like me logo Genes that share compounds with PEX2: view

Transcripts for PEX2 Gene

Unigene Clusters for PEX2 Gene

Peroxisomal biogenesis factor 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PEX2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX2 Gene

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

Relevant External Links for PEX2 Gene

GeneLoc Exon Structure for
PEX2
ECgene alternative splicing isoforms for
PEX2

Expression for PEX2 Gene

mRNA expression in normal human tissues for PEX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX2 Gene

SOURCE GeneReport for Unigene cluster for PEX2 Gene Hs.437966

genes like me logo Genes that share expressions with PEX2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX2 Gene

Orthologs for PEX2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX2 35
  • 99.45 (n)
  • 99.02 (a)
PEX2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX2 35
  • 83.66 (n)
  • 86.51 (a)
PEX2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX2 35
  • 88.09 (n)
  • 90.16 (a)
PEX2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex2 35
  • 86.67 (n)
  • 88.2 (a)
Pex2 16
Pex2 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX2 36
  • 41 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex2 35
  • 85.36 (n)
  • 87.87 (a)
chicken
(Gallus gallus)
Aves PEX2 35
  • 73.25 (n)
  • 74.34 (a)
PEX2 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX2 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex2 35
  • 67.43 (n)
  • 66.23 (a)
zebrafish
(Danio rerio)
Actinopterygii pex2 35
  • 60.34 (n)
  • 57.97 (a)
pex2 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010836 35
  • 43.95 (n)
  • 34.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex2 35
  • 44.8 (n)
  • 32.81 (a)
Pex2 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-2 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons TED3 35
  • 45.82 (n)
  • 31.8 (a)
rice
(Oryza sativa)
Liliopsida Os05g0275700 35
  • 46.79 (n)
  • 33.58 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02070 35
  • 41.75 (n)
  • 33.17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToOne
Species with no ortholog for PEX2:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX2 Gene

ENSEMBL:
Gene Tree for PEX2 (if available)
TreeFam:
Gene Tree for PEX2 (if available)

Paralogs for PEX2 Gene

Selected SIMAP similar genes for PEX2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PEX2 Gene

genes like me logo Genes that share paralogs with PEX2: view

No data available for Paralogs for PEX2 Gene

Variants for PEX2 Gene

Sequence variations from dbSNP and Humsavar for PEX2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs12718 -- 76,999,994(-) GACTC(A/C)TAAGG utr-variant-5-prime
rs1133474 -- 76,981,862(-) TTTTG(A/T)AGTTT utr-variant-3-prime
rs1133475 -- 76,981,602(-) ATTTT(A/G)GGGCT utr-variant-3-prime
rs1136687 -- 76,983,111(-) TAATC(A/C)CTGGA utr-variant-3-prime
rs4297017 -- 76,986,169(+) ATGAT(C/T)TTCTG intron-variant

Relevant External Links for PEX2 Gene

HapMap Linkage Disequilibrium report
PEX2
Human Gene Mutation Database (HGMD)
PEX2
Locus Specific Mutation Databases (LSDB)
PEX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PEX2 Gene

Disorders for PEX2 Gene

(2) OMIM Diseases for PEX2 Gene (170993)

UniProtKB/Swiss-Prot

PEX2_HUMAN
  • Peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:614866]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:1546315}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269 PubMed:10528859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PEX2 Gene

(3) Novoseek inferred disease relationships for PEX2 Gene

Disease -log(P) Hits PubMed IDs
zellweger syndrome 95.5 8
peroxisome biogenesis disorders 95.2 5
peroxisomal disorders 72.2 1

Relevant External Links for PEX2

Genetic Association Database (GAD)
PEX2
Human Genome Epidemiology (HuGE) Navigator
PEX2
genes like me logo Genes that share disorders with PEX2: view

Publications for PEX2 Gene

  1. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. (PMID: 1546315) Shimozawa N. … Fujiki Y. (Science 1992) 2 3 4 23
  2. Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders. (PMID: 10528859) Shimozawa N. … Kondo N. (J. Med. Genet. 1999) 3 4 23
  3. Ring finger in the peroxisome assembly factor-1. (PMID: 1426230) Patarca R. … Fletcher M.A. (FEBS Lett. 1992) 3 4 23
  4. Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein. (PMID: 10891359) Biermanns M. … Gaertner J. (Biochem. Biophys. Res. Commun. 2000) 3 4 23
  5. Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p. (PMID: 10837480) Okumoto K. … Fujiki Y. (J. Biol. Chem. 2000) 3 23

Products for PEX2 Gene

  • Addgene plasmids for PEX2

Sources for PEX2 Gene

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