• Gene id: 5191

Gene Summary

• Gene Symbol: PEX7   Gene   UCSC   Ensembl
• Aliases: PBD9B, PTS2R, RCDP1, RD
• Gene name: peroxisomal biogenesis factor 7
• Alternate names: peroxisomal biogenesis factor 7, PTS2 receptor, peroxin-7, peroxisomal PTS2 receptor, peroxisomal targeting signal 2 receptor, peroxisome targeting signal 2 receptor,
• Gene location: 6q23.3 (136821682: 136913933)     Exons: 11     NC_000006.12
• Gene summary(Entrez): This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multipl
• OMIM: 601757

Protein Summary

• Protein general information: O00628  
  • Name: Peroxisomal targeting signal 2 receptor (PTS2 receptor) (Peroxin 7)
  • Length: 323  
  • Mass: 35892
  • Tissue specificity: Ubiquitous. Highest expression in pancreas, skeletal muscle and heart.
• Sequence:

  MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGLFDVTW
  SENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLWDPTVGKSLCT
  FRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRG
  WDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPT
  QVADCSWDETIKIYDPACLTIPA

• Structural information:
  • Interpro: IPR020472  IPR015943  IPR001680  IPR019775  IPR017986   IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000315680
• Other Databases: GeneCards:  PEX7  Malacards:  PEX7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005053	peroxisome matrix targeting signal-2 binding	IBA	molecular function
GO:0016558	protein import into peroxisome matrix	IBA	biological process
GO:0005782	peroxisomal matrix	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0016558	protein import into peroxisome matrix	IDA	biological process
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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006625	protein targeting to peroxisome	IEA	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0016558	protein import into peroxisome matrix	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005053	peroxisome matrix targeting signal-2 binding	IDA	molecular function
GO:0005053	peroxisome matrix targeting signal-2 binding	IDA	molecular function
GO:0005782	peroxisomal matrix	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005053	peroxisome matrix targeting signal-2 binding	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0016558	protein import into peroxisome matrix	IMP	biological process
GO:0008611	ether lipid biosynthetic process	IMP	biological process
GO:0008611	ether lipid biosynthetic process	IMP	biological process
GO:0007031	peroxisome organization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Peroxisome biogenesis disorder	KEGG:H00205
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Refsum disease	KEGG:H00075
Peroxisome biogenesis disorder	KEGG:H00205
Rhizomelic chondrodysplasia punctata	KEGG:H00207
Refsum disease	KEGG:H00075
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)