PEX2 - peroxisomal biogenesis factor 2 Gene

中文名称：过氧化物酶体生物发生因子 2

种属: Homo sapiens

同用名: PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72

基因 ID: 5828 | 基因类型: protein coding

关于 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.

功能概要

该基因编码过氧化物酶体生物发生所需的完整过氧化物酶体膜蛋白。该蛋白质被认为参与过氧化物酶体基质蛋白质的输入。该基因的突变会导致一种形式的 Zellweger 综合征和婴儿 Refsum 病。可变剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	10837480	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	27597759	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to reactive oxygen species	IDA IDA: 通过直接分析推断	26344566	GOA
involved in fatty acid beta-oxidation	IMP IMP: 通过突变表型推断	9765053	GOA
involved in negative regulation of epithelial cell proliferation	IMP IMP: 通过突变表型推断	18987311	GOA
involved in negative regulation of fibroblast proliferation	IMP IMP: 通过突变表型推断	18987311	GOA
involved in peroxisome organization	IMP IMP: 通过突变表型推断	1546315	GOA
involved in pexophagy	IDA IDA: 通过直接分析推断	26344566	GOA
involved in protein destabilization	IMP IMP: 通过突变表型推断	18987311	GOA
involved in protein import into peroxisome matrix	IMP IMP: 通过突变表型推断	10528859	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: 通过直接分析推断	24662292	GOA
involved in protein monoubiquitination	IDA IDA: 通过直接分析推断	27597759	GOA
involved in response to amino acid starvation	IDA IDA: 通过直接分析推断	27597759	GOA
involved in very long-chain fatty acid metabolic process	IMP IMP: 通过突变表型推断	9765053	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Cdc73/Paf1 complex	IDA IDA: 通过直接分析推断	18987311	GOA
is active in peroxisomal membrane	IDA IDA: 通过直接分析推断	12751901	GOA
located in peroxisomal membrane	IMP IMP: 通过突变表型推断	12751901	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PEX2 蛋白结构

Pex2_Pex12

zf-C3HC4

0
100
200
305 a.a.

蛋白主名

其他名称

peroxisome biogenesis factor 2

35 kDa peroxisomal membrane protein

PEX2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	PEX2	P28328	PEX19	Homo sapiens	P40855	Peptide Array	20531392

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10348	PEX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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