Property Summary

NCBI Gene PubMed Count 15
Grant Count 2
Funding $104,040
PubMed Score 25.93
PubTator Score 9.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.046 0.000
ulcerative colitis -1.100 0.000

Synonym

Accession Q96FM1 B4DGK7 Q86Z03 Q8NBJ8
Symbols CAB2
PERLD1
PP1498
hCOS16
AGLA546

Gene

 Grant Application (2)

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.
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