Identity
HGNC
LOCATION
8q21.13
LOCUSID
ALIAS
PAF1,PBD5A,PBD5B,PMP3,PMP35,PXMP3,RNF72,ZWS3
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: 5828
MIM: 170993
HGNC: 9717
Ensembl: ENSG00000164751
Variants:
dbSNP: 5828
ClinVar: 5828
TCGA: ENSG00000164751
COSMIC: PEX2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164751 | ENST00000357039 | P28328 |
| ENSG00000164751 | ENST00000518986 | E5RIW9 |
| ENSG00000164751 | ENST00000520103 | P28328 |
| ENSG00000164751 | ENST00000522527 | P28328 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29458144 | 2018 | Disruption of peroxisome function leads to metabolic stress, mTOR inhibition, and lethality in liver cancer cells. | 28 |
| 29458144 | 2018 | Disruption of peroxisome function leads to metabolic stress, mTOR inhibition, and lethality in liver cancer cells. | 28 |
| 27597759 | 2016 | PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation. | 86 |
| 27597759 | 2016 | PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation. | 86 |
| 23590336 | 2014 | A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. | 3 |
| 23590336 | 2014 | A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent. | 3 |
| 21392394 | 2011 | Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. | 24 |
| 21903356 | 2011 | Elevation of hemopexin-like fragment of matrix metalloproteinase-2 tissue levels inhibits ischemic wound healing and angiogenesis. | 2 |
| 21392394 | 2011 | Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene. | 24 |
| 21903356 | 2011 | Elevation of hemopexin-like fragment of matrix metalloproteinase-2 tissue levels inhibits ischemic wound healing and angiogenesis. | 2 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20546612 | 2010 | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. | 28 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20546612 | 2010 | The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. | 28 |
| 1546315 | 1992 | A human gene responsible for Zellweger syndrome that affects peroxisome assembly. | 72 |
Citation
Dessen P
PEX2 (peroxisomal biogenesis factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56074/pex2-(peroxisomal-biogenesis-factor-2)
