PEX2 - peroxisomal biogenesis factor 2 Gene

Homo sapiens

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

Gene ID: 5828 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10348	PEX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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