InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PEX2

Summary

InnateDB Protein

IDBP-481047.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PEX2

Protein Name

peroxisomal biogenesis factor 2

Synonyms

PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3; RNF72; ZWS3;

Species

Homo sapiens

Ensembl Protein

ENSP00000428638

InnateDB Gene

IDBG-26070 (PEX2)

Protein Structure

UniProt Annotation

Function

Somewhat implicated in the biogenesis of peroxisomes.

Subcellular Localization

Peroxisome membrane; Multi-pass membrane protein.

Disease Associations

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:0000269PubMed: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:0000269PubMed:10528859}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0000038	very long-chain fatty acid metabolic process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006635	fatty acid beta-oxidation
GO:0007031	peroxisome organization
GO:0016558	protein import into peroxisome matrix
GO:0031648	protein destabilization
GO:0048147	negative regulation of fibroblast proliferation
GO:0050680	negative regulation of epithelial cell proliferation