• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PEX7 (HGNC:8860) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
peroxisomal biogenesis factor 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PTS2R, RD
%HI
31.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.42(Read more about gnomAD LOEUF score)
Cytoband
6q23.3
Genomic Coordinates
GRCh37/hg19: chr6:137143730-137235072 NCBI Ensembl UCSC
GRCh38/hg38: chr6:136822592-136913934 NCBI Ensembl UCSC
MANE Select Transcript
NM_000288.4 ENST00000318471.5 (Read more about MANE Select)
Function
Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:9090381, PubMed:11931631, PubMed:22057399, PubMed:25538232). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (PubMed:11931631, PubMed:22057399, PubMed:25538232). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, wh... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-978
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • peroxisome biogenesis disorder 9B Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)