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

Gene ID: 5828, updated on 5-Aug-2018

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; Vega:OTTHUMG00000164530
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 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
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

NHGRI GWAS Catalog

Description
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Pathways from BioSystems

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

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 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 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Cdc73/Paf1 complex IDA
Inferred from Direct Assay
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_000318.2NP_000309.1  peroxisome biogenesis factor 2

    See identical proteins and their annotated locations for NP_000309.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AC090810, BC093043, BX093361, DA210382
    Consensus CDS
    CCDS6221.1
    UniProtKB/Swiss-Prot
    P28328
    Related
    ENSP00000349543.4, OTTHUMP00000226907, ENST00000357039.8, OTTHUMT00000379122
    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_001079867.1NP_001073336.1  peroxisome biogenesis factor 2

    See identical proteins and their annotated locations for NP_001073336.1

    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, BC005375, BX093361, DA210382
    Consensus CDS
    CCDS6221.1
    UniProtKB/Swiss-Prot
    P28328
    Related
    ENSP00000428638.1, OTTHUMP00000226909, ENST00000522527.5, OTTHUMT00000379124
    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
  3. NM_001172086.1NP_001165557.1  peroxisome biogenesis factor 2

    See identical proteins and their annotated locations for NP_001165557.1

    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, BU561273, M86852
    Consensus CDS
    CCDS6221.1
    UniProtKB/Swiss-Prot
    P28328
    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
  4. NM_001172087.1NP_001165558.1  peroxisome biogenesis factor 2

    See identical proteins and their annotated locations for NP_001165558.1

    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, BP193912, BU561273, M85038
    Consensus CDS
    CCDS6221.1
    UniProtKB/Swiss-Prot
    P28328
    Related
    ENSP00000428590.1, OTTHUMP00000226908, ENST00000520103.5, OTTHUMT00000379123
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

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