• Gene id: 5828

Gene Summary

• Gene Symbol: PEX2   Gene   UCSC   Ensembl
• Aliases: PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3
• Gene name: peroxisomal biogenesis factor 2
• Alternate names: peroxisome biogenesis factor 2, 35 kDa peroxisomal membrane protein, RING finger protein 72, peroxisomal membrane protein 3, 35kDa, peroxisome assembly factor 1,
• Gene location: 8q21.13 (77001043: 76980257)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 170993

Protein Summary

• Protein general information: P28328  
  • Name: Peroxisome biogenesis factor 2 (35 kDa peroxisomal membrane protein) (Peroxin 2) (Peroxisomal membrane protein 3) (Peroxisome assembly factor 1) (PAF 1) (RING finger protein 72)
  • Length: 305  
  • Mass: 34843
• Sequence:

  MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNAT
  VGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGG
  LINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCI
  PLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMS
  EVNAL

• Structural information:
  • Interpro: IPR006845  IPR018957  IPR001841  IPR013083  IPR017907  
  • Prosite: PS00518 PS50089
  • STRING: ENSP00000349543
• Other Databases: GeneCards:  PEX2  Malacards:  PEX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007031	peroxisome organization	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0016567	protein ubiquitination	TAS	biological process
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005778	peroxisomal membrane	IEA	cellular component
GO:0016593	Cdc73/Paf1 complex	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0050680	negative regulation of epithelial cell proliferation	IMP	biological process
GO:0031648	protein destabilization	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0000038	very long-chain fatty acid metabolic process	IMP	biological process
GO:0016558	protein import into peroxisome matrix	IMP	biological process
GO:0005779	integral component of peroxisomal membrane	IMP	cellular component
GO:0005778	peroxisomal membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048147	negative regulation of fibroblast proliferation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Infantile Refsum disease	KEGG:H00204
Peroxisome biogenesis disorder	KEGG:H00205
Zellweger syndrome	KEGG:H01342
Infantile Refsum disease	KEGG:H00204
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881