PEX2 Chromosome 8
Peroxisomal biogenesis factor 2
Upload your DNA to see your personal genotypes for variants in PEX2.
What This Gene Does
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 disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Peroxins"
Locus Type
gene with protein product
Location
8q21.13
Ensembl
ENSG00000164751
Associated Conditions (8)
Peroxisome biogenesis disorder 5A (Zellweger)
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 5B
Zellweger spectrum disorders
PEX2-related disorder
Inborn genetic diseases
See cases
Peroxisome biogenesis disorder
Key Variants
RS1395525519
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS142645936
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
Health Risk
RS146354196
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), PEX2-related disorder, Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS150734057
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), PEX2-related disorder, Inborn genetic diseases
Health Risk
RS150987080
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS1806901488
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS35689779
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS367649632
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders, PEX2-related disorder
Health Risk
RS375401977
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders, Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS376101275
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
RS544763390
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders, Peroxisome biogenesis disorder 5B
Health Risk
RS562263817
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
Health Risk
All Variants (92)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2132044032 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2132044079 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2132044384 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2132045027 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487451984 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487452030 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487452268 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487452618 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487452658 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487452856 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487453569 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487453776 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2487454016 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487454145 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS61752118 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS61752123 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder |
| RS61752127 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5B |
| RS61752128 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS63545361 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Zellweger spectrum disorders, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS724160029 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5B |
| RS777974798 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1011185031 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1052655986 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder |
| RS1174648906 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1224562361 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1235008965 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder |
| RS1261498405 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1289852067 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1438831421 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Peroxisome biogenesis disorder 5A (Zellweger), Inborn genetic diseases |
| RS1554584505 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1586070043 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1586070089 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1806926984 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2132043567 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2132044757 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487451205 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487451701 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS2487453331 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS61752122 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders |
| RS61752124 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder |
| RS756891007 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5A (Zellweger) |
| RS764771123 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder |