Tbio PEX7 Peroxisomal targeting signal 2 receptor

Protein Summary

Description

Binds to the N-terminal PTS2-type peroxisomal targeting signal and plays an essential role in peroxisomal protein import. 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 multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

Uniprot Accession IDs

• O00628
• C0H5X6
• PTS2 receptor

Gene Name

• PEX7

Ensembl ID

• ENST00000318471
• ENSP00000315680
• ENSG00000112357
• ENST00000541292
• ENSP00000441004

Symbol

• PTS2R
• RD
• PBD9B
• PTS2R
• RCDP1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.9
protein domain	0.73
phenotype	0.71
transcription factor binding site profile	0.7
biological process	0.68

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 76.51   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 142   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 76.51   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 142   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0