Property Summary

NCBI Gene PubMed Count 38
PubMed Score 53.50
PubTator Score 39.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Multiple myeloma 1.237 9.1e-03
psoriasis 1.200 7.5e-04
hereditary spastic paraplegia -1.192 2.2e-03
lung cancer 1.400 1.6e-02
ovarian cancer 1.800 4.7e-03

 GO Function (1)

Pathway (1)

Gene RIF (6)

PMID Text
23590336 the carrier frequencies for two PEX2 mutations causative of the severe Zellweger syndrome spectrum phenotype in Ashkenazi Jews
21903356 Ischemic wound healing is retarded in mice subjected to recombinant PEX2 injections or viral transduction with PEX2-lentivurus.
21392394 Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA
20546612 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
1546315 The cause of the syndrome in this patient was a point mutation that resulted in the premature termination of peroxisome assembly factor-1.

AA Sequence

MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIY      1 - 70
SKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVN     71 - 140
FVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPL    141 - 210
INVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTC    211 - 280
PKCGTEVHSLQPLKSGIEMSEVNAL                                                 281 - 305
//

Text Mined References (38)

PMID Year Title
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
23590336 2014 A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.
21903356 2011 Elevation of hemopexin-like fragment of matrix metalloproteinase-2 tissue levels inhibits ischemic wound healing and angiogenesis.
21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21392394 2011 Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
20531392 2010 The peroxisomal receptor Pex19p forms a helical mPTS recognition domain.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18987311 2008 The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene.
18391951 2008 Many sequence variants affecting diversity of adult human height.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
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.
12751901 2003 The peroxisomal membrane targeting elements of human peroxin 2 (PEX2).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11590176 2002 Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes.
10891359 2000 Genomic organization and characterization of human PEX2 encoding a 35-kDa peroxisomal membrane protein.
10837480 2000 Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p.
10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.
9765053 1998 Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70.
9452066 1998 A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome.
8858157 1996 A unified nomenclature for peroxisome biogenesis factors.
8020947 1994 Assignment of the human peroxisome assembly factor-1 gene (PXMP3) responsible for Zellweger syndrome to chromosome 8q21.1 by fluorescence in situ hybridization.
7681622 1993 Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
7600573 1995 A nonmammalian homolog of the PAF1 gene (Zellweger syndrome) discovered as a gene involved in caryogamy in the fungus Podospora anserina.
2454948 1988 Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.
1750930 1991 Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant.
1546315 1992 A human gene responsible for Zellweger syndrome that affects peroxisome assembly.
1426230 1992 Ring finger in the peroxisome assembly factor-1.