Property Summary

NCBI Gene PubMed Count 15
PubMed Score 25.93
PubTator Score 9.39

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
ulcerative colitis 2087 1.2e-06
osteosarcoma 7933 2.1e-04
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Arthus reaction 8 3.004 1.5

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.046 2.1e-04
ulcerative colitis -1.100 1.2e-06

Gene RIF (9)

PMID Text
24439110 Impairment of PGAP3 causes a subtype of hyperphosphatasia with intellectual disabilities, a congenital disorder of glycosylation that is also referred to as Mabry syndrome.
23615438 Data show that glycosylphosphatidylinositol-anchored proteins (GPI-APs) are secreted into the medium by cells overexpressing PGAP3.
22188591 These findings revealed the association of PERLD1 as a novel asthma candidate gene and reinforced the involvement of genes on the 17q12-21 chromosomal region in the etiology of asthma.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19124506 Observational study of gene-disease association. (HuGE Navigator)
17117180 Observational study of gene-disease association. (HuGE Navigator)
15010812 Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus.
12739007 MGC9753, consisting of eight exons, clustered with PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes within the 120-kb region of chromosome 17q12; PPP1R1B, STARD3, MGC9753, ERBB2 and GRB7 genes are co-amplified in several cases of gastric cancer

AA Sequence

MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKY      1 - 70
ECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCV     71 - 140
AFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVH    141 - 210
VSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWV    211 - 280
LDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD                                  281 - 320
//

Text Mined References (18)

PMID Year Title
24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
23615438 2013 Apical sorting of lysoGPI-anchored proteins occurs independent of association with detergent-resistant membranes but dependent on their N-glycosylation.
22188591 2011 Genome-wide association study identifies PERLD1 as asthma candidate gene.
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.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19124506 2009 Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
17117180 2006 HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
17021251 2006 PER1 is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15010812 2004 Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12739007 2003 MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12460457 2002 Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers.