Identity
HGNC
LOCATION
6q23.3
LOCUSID
ALIAS
PBD9B,PTS2R,RCDP1,RD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5191
MIM: 601757
HGNC: 8860
Ensembl: ENSG00000112357
Variants:
dbSNP: 5191
ClinVar: 5191
TCGA: ENSG00000112357
COSMIC: PEX7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000112357 | ENST00000318471 | O00628 |
| ENSG00000112357 | ENST00000318471 | Q6FGN1 |
| ENSG00000112357 | ENST00000367756 | Q5TDQ5 |
| ENSG00000112357 | ENST00000541292 | O00628 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33586206 | 2021 | Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. | 1 |
| 33586206 | 2021 | Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B. | 1 |
| 30204880 | 2018 | A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. | 0 |
| 30204880 | 2018 | A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein. | 0 |
| 28013369 | 2017 | Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line. | 0 |
| 28013369 | 2017 | Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line. | 0 |
| 25538232 | 2015 | Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7. | 17 |
| 25800479 | 2015 | Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. | 0 |
| 26138649 | 2015 | Revisiting the intraperoxisomal pathway of mammalian PEX7. | 8 |
| 25538232 | 2015 | Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7. | 17 |
| 25800479 | 2015 | Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene. | 0 |
| 26138649 | 2015 | Revisiting the intraperoxisomal pathway of mammalian PEX7. | 8 |
| 24865970 | 2014 | A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway. | 17 |
| 24989250 | 2014 | CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p. | 5 |
| 24865970 | 2014 | A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway. | 17 |
Citation
Dessen P
PEX7 (peroxisomal biogenesis factor 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71844/pex7-(peroxisomal-biogenesis-factor-7)
