Property Summary

NCBI Gene PubMed Count 36
Grant Count 28
R01 Count 19
Funding $4,209,843.22
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 0.000
intraductal papillary-mucinous neoplasm ... -1.700 0.003
interstitial cystitis -1.200 0.012
group 4 medulloblastoma -1.100 0.001
lung carcinoma 1.100 0.000
gastric carcinoma -1.500 0.012
acute myeloid leukemia -1.100 0.005
ovarian cancer -1.200 0.000

Pathway (1)

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.
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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.
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