PEX2 - peroxisomal biogenesis factor 2 Gene

Also Known as PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5828

About PEX2

Cytogenetic location: 8q21.13 Genomic coordinates (GRCh38): 8:76,980,258-77,001,044 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 10.2), urinary bladder (RPKM 7.9) and 25 other tissues.

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]

PEX2 Products (4)

mRNA	Protein	Name
NM_000318.3	NP_000309.2	peroxisome biogenesis factor 2
NM_001079867.2	NP_001073336.2	peroxisome biogenesis factor 2
NM_001172086.2	NP_001165557.2	peroxisome biogenesis factor 2
NM_001172087.2	NP_001165558.2	peroxisome biogenesis factor 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10837480	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	27597759	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	26344566	GOA
involved in fatty acid beta-oxidation	IMP IMP: Inferred from mutant phenotype	9765053	GOA
involved in negative regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	18987311	GOA
involved in negative regulation of fibroblast proliferation	IMP IMP: Inferred from mutant phenotype	18987311	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	1546315	GOA
involved in pexophagy	IDA IDA: Inferred from direct assay	26344566	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	18987311	GOA
involved in protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	10528859	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: Inferred from direct assay	24662292	GOA
involved in protein monoubiquitination	IDA IDA: Inferred from direct assay	27597759	GOA
involved in response to amino acid starvation	IDA IDA: Inferred from direct assay	27597759	GOA
involved in very long-chain fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	9765053	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cdc73/Paf1 complex	IDA IDA: Inferred from direct assay	18987311	GOA
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	12751901	GOA
located in peroxisomal membrane	IMP IMP: Inferred from mutant phenotype	12751901	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PEX2 Protein Structure

Pex2_Pex12

zf-C3HC4

0
100
200
305 a.a.

Protein Preferred Names	Protein Names
peroxisome biogenesis factor 2	35 kDa peroxisomal membrane protein

PEX2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX2	P28328	PEX19	Homo sapiens	P40855	Peptide Array	20531392

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 5b	PBD5B Peroxisome Biogenesis Disorder, Type 5b
Peroxisome Biogenesis Disorder 5a	PBD5A Peroxisome Biogenesis Disorder Complementation Group 5 PBD-CG5 Cg5 Pbd-Cg10 Pbd-Cgf Peroxisome Biogenesis Disorder Complementation Group 10 Peroxisome Biogenesis Disorder Complementation Group F Zellweger Syndrome 3 Zws3 Peroxisome Biogenesis Disorder, Type 5a
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Zellweger Spectrum Disorder	Zsd Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Zellweger Spectrum Cerebrohepatorenal Syndrome Pbd, Zss Pbd-Zsd Zellweger Syndrome Spectrum Zellweger Syndrome
Neonatal Adrenoleukodystrophy	Nald Adrenoleukodystrophy Autosomal Neonatal Form Intermediate Pbd-Zsd Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Adrenoleukodystrophy, Autosomal, Neonatal Form Adrenoleukodystrophy Neonatal Adrenoleukodystrophy, Neonatal
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Chromosome 8q21.11 Deletion Syndrome	8q21.11 Microdeletion Syndrome Del(8)(Q21.11) Deletion 8q21.11 Monosomy 8q21.11
Epidermolysis Bullosa, Junctional 1b, Severe	Epidermolysis Bullosa, Junctional, Herlitz Type Epidermolysis Bullosa Letalis JEB1B Epidermolysis Bullosa Junctionalis, Herlitz Type Jeb-Herlitz Type Herlitz-Pearson-Type Epidermolysis Bullosa Junctional Epidermolysis Bullosa Herlitz Type Jeb-H Junctional Epidermolysis Bullosa Generalisata Gravis Junctional Epidermolysis Bullosa, Herlitz-Pearson Type Epidermolysis Bullosa, Junctional, Generalized Severe Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type Herlitz Type Epidermolysis Bullosa Junctionalis Severe Generalized Junctional Epidermolysis Bullosa Junctional Epidermolysis Bullosa, Herlitz Type Severe Generalized Jeb Epidermolysis Letalis Junctional Epidermolysis Bullosa Gravis Junctional Epidermolysis Bullosa Herlitz-Pearson Type Herlitz Disease
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10348	PEX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21406	Pex2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27925	Pex2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PEX2	VGNC	VGNC:54117
Mus musculus	PEX2	MGD	MGI:107486
Bos taurus	PEX2	VGNC	VGNC:53872
Rattus norvegicus	PEX2	RGD	RGD:61814
Macaca mulatta	PEX2	VGNC	VGNC:104468
Others	PEX2	NCBI