Property Summary

NCBI Gene PubMed Count 36
PubMed Score 40.97
PubTator Score 51.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
psoriasis 1.100 4.9e-04
intraductal papillary-mucinous neoplasm ... -1.700 2.9e-03
interstitial cystitis -1.200 1.2e-02
group 4 medulloblastoma -1.100 1.1e-03
lung carcinoma 1.100 1.2e-21
gastric carcinoma -1.500 1.2e-02
acute myeloid leukemia -1.100 4.6e-03
ovarian cancer -1.200 4.6e-04

Pathway (1)

Protein-protein Interaction (13)

Gene RIF (18)

PMID Text
26138649 our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix
25800479 Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1.
25538232 the sequential formation of a highly stable trimeric complex involving cargo protein, PEX7 and PEX5L stabilizes cargo binding and is a prerequisite for PTS2-mediated peroxisomal import.
24989250 dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex.
24865970 Export of peroxisomal PEX7 back into the cytosol requires export of PEX5.
22378669 This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
22057399 Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20145307 Mutations in PEX7 gene is associated with Rhizomelic chondrodysplasia punctata.
19913121 Observational study of gene-disease association. (HuGE Navigator)
18327563 Observational study of gene-disease association. (HuGE Navigator)
14974078 Missense mutations, sequence duplications and deletions in PRX7 in 3 patients with the Refsum disease phenotypes.
14713215 Identification of PEX7 as the second gene involved in Refsum disease.
12522768 This gene codes for the peroxin 7 receptor protein required for peroxisomal import of proteins containing a peroxisomal targeting signal type 2. Mutations may result in a broad clinical spectrum of Refsum disease.
12325024 The residual activity of mutant Pex7 protein in rhizomelic chondrodysplasia punctata patients and reduced amounts of normal Pex7 are associated with milder and variant phenotypes.
11931631 Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
11781871 mutational spectrum in the PEX7 gene of 78 patients (including five pairs of sibs) clinically and biochemically diagnosed with RCDP type I

AA Sequence

MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGL      1 - 70
FDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLW     71 - 140
DPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYN    141 - 210
ENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLE    211 - 280
TVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA                               281 - 323
//

Text Mined References (34)

PMID Year Title
26138649 2015 Revisiting the intraperoxisomal pathway of mammalian PEX7.
25800479 2015 Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
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.
24989250 2014 CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
24865970 2014 A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.
22378669 2012 Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
22057399 2011 Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20145307 2010 Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18327563 2008 ASK1 and MAP2K6 as modifiers of age at onset in Huntington's disease.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14974078 2004 Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
14713215 2003 Identification of PEX7 as the second gene involved in Refsum disease.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12522768 2003 Identification of PEX7 as the second gene involved in Refsum disease.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12325024 2002 Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
11931631 2002 Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.
11865044 2002 Peroxisomal targeting signal receptor Pex5p interacts with cargoes and import machinery components in a spatiotemporally differentiated manner: conserved Pex5p WXXXF/Y motifs are critical for matrix protein import.
11546814 2001 Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.
10673331 2000 PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
10212238 1999 The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis.
10087260 1999 Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes.
10083738 1999 A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.
10022913 1999 Identification and characterization of the human orthologue of yeast Pex14p.
9472033 1998 A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.
9326939 1997 Identification of PAHX, a Refsum disease gene.
9090383 1997 Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
9090382 1997 Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
9090381 1997 Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.