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

Gene ID: 5828, updated on 22-Aug-2020

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

Genomic context

See PEX2 in Genome Data Viewer
Location:
8q21.13
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (76980258..77001044, complement)
105 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
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fatty acid beta-oxidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
protein ubiquitination TAS
Traceable Author Statement
more info
 
very long-chain fatty acid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cdc73/Paf1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cdc73/Paf1 complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of peroxisomal membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane HDA PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 

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)

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
    pfam04757
    Location:27224
    Pex2_Pex12; Pex2 / Pex12 amino terminal region
    cd16526
    Location:243284
    RING-HC_PEX2; RING finger, HC subclass, found in peroxin-2 (PEX2) and similar proteins
  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
  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
  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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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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