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    PEX2 peroxisomal biogenesis factor 2 [ Homo sapiens (human) ]

    Gene ID: 5828, updated on 8-Jul-2021

    Summary

    Official Symbol
    PEX2provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 2provided by HGNC
    Primary source
    HGNC:HGNC:9717
    See related
    Ensembl:ENSG00000164751 MIM:170993
    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
    PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 10.2), urinary bladder (RPKM 7.9) and 25 other tissues See more
    Orthologs
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    Genomic context

    See PEX2 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (76980258..77001044, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (77892494..77913280, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene zinc finger homeobox 4 Neighboring gene VISTA enhancer hs1681 Neighboring gene microRNA 3149 Neighboring gene Sharpr-MPRA regulatory region 11833 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 18 Neighboring gene VISTA enhancer hs742

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A novel common variant in DCST2 is associated with length in early life and height in adulthood.
    GeneReviews: Not available
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    GeneReviews: Not available
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    GeneReviews: Not available
    Many sequence variants affecting diversity of adult human height.
    GeneReviews: Not available
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    GeneReviews: Not available
    Peroxisome biogenesis disorder 5a (zellweger)
    MedGen: C3553940 OMIM: 614866 GeneReviews: Not available
    Compare labs
    Peroxisome biogenesis disorder 5B
    MedGen: C3542026 OMIM: 614867 GeneReviews: Not available
    Compare labs
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    GeneReviews: Not available

    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
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome biogenesis factor 2
    Names
    35 kDa peroxisomal membrane protein
    RING finger protein 72
    peroxisomal membrane protein 3, 35kDa
    peroxisome assembly factor 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008371.1 RefSeqGene

      Range
      5001..25031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000318.3NP_000309.2  peroxisome biogenesis factor 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC090810
      Consensus CDS
      CCDS6221.1
      Related
      ENSP00000349543.4, ENST00000357039.9
      Conserved Domains (2) summary
      cd16526
      Location:243284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region
    2. NM_001079867.2NP_001073336.2  peroxisome biogenesis factor 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC090810
      Consensus CDS
      CCDS6221.1
      Related
      ENSP00000428638.1, ENST00000522527.5
      Conserved Domains (2) summary
      cd16526
      Location:243284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region
    3. NM_001172086.2NP_001165557.2  peroxisome biogenesis factor 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC090810
      Consensus CDS
      CCDS6221.1
      Conserved Domains (2) summary
      cd16526
      Location:243284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region
    4. NM_001172087.2NP_001165558.2  peroxisome biogenesis factor 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC090810
      Consensus CDS
      CCDS6221.1
      Related
      ENSP00000428590.1, ENST00000520103.5
      Conserved Domains (2) summary
      cd16526
      Location:243284
      RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
      pfam04757
      Location:27224
      Pex2_Pex12; Pex2 / Pex12 amino terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      76980258..77001044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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