The PEX2 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX2
Gene name peroxisomal biogenesis factor 2
Chromosome 8
Chromosomal band q21.11
Imprinted Unknown
Genomic reference NG_008371.1
Transcript reference NM_000318.2
Exon/intron information NM_000318.2 exon/intron table
Associated with diseases PBD-5A, PBD-5B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 58
Unique public DNA variants reported 38
Individuals with public variants 38
Hidden variants 3
Download all this gene's data Download all data
Notes This database is one of the dbPEX gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 07, 2006
Date last updated September 17, 2021
Version PEX2:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000318.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 9717
Entrez Gene 5828
PubMed articles PEX2
OMIM - Gene 170993
OMIM - Diseases PBD-5A (peroxisome biogenesis disorder, type 5A (PBD-5A))
PBD-5B (peroxisome biogenesis disorder, type 5B (PBD-5B))
GeneCards PEX2
GeneTests PEX2
Orphanet PEX2

Active transcripts




NCBI ID     

NCBI Protein ID     

00015983 8 transcript variant 1 NM_000318.2 NP_000309.1 58

Copyright & disclaimer
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