PGAP3 (post-GPI attachment to proteins phospholipase 3)

2009-06-01  

Identity

HGNC
LOCATION
17q12
LOCUSID
ALIAS
AGLA546,CAB2,PERLD1,PP1498,hCOS16
FUSION GENES

Other Information

Locus ID:

NCBI: 93210
MIM: 611801
HGNC: 23719
Ensembl: ENSG00000161395

Variants:

dbSNP: 93210
ClinVar: 93210
TCGA: ENSG00000161395
COSMIC: PGAP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161395ENST00000300658Q96FM1
ENSG00000161395ENST00000378011Q96FM1
ENSG00000161395ENST00000429199Q96FM1
ENSG00000161395ENST00000577337J3QRN7
ENSG00000161395ENST00000579146J3QKU0
ENSG00000161395ENST00000584620J3KTJ2
ENSG00000161395ENST00000584856J3QQL0
ENSG00000161395ENST00000619169A0A087WTP0

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
244391102014Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.37
191245062009Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.22
150108122004Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.16
171171802006HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.16
271202532016Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
221885912011Genome-wide association study identifies PERLD1 as asthma candidate gene.10
236154382013Apical sorting of lysoGPI-anchored proteins occurs independent of association with detergent-resistant membranes but dependent on their N-glycosylation.7
127390072003MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.4

Citation

Dessen P

PGAP3 (post-GPI attachment to proteins phospholipase 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50943/pgap3