Property Summary

NCBI Gene PubMed Count 38
Grant Count 25
R01 Count 16
Funding $2,584,452.33
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 0.009
psoriasis 1.200 0.001
hereditary spastic paraplegia -1.192 0.002
lung cancer 1.400 0.016
ovarian cancer 1.800 0.005

 GO Function (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.
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