Identity
HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
CWH43-N,FRAG1,HPMRS3,MRT17,MRT21
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 27315
MIM: 615187
HGNC: 17893
Ensembl: ENSG00000148985
Variants:
dbSNP: 27315
ClinVar: 27315
TCGA: ENSG00000148985
COSMIC: PGAP2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31805394 | 2020 | A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. | 6 |
| 31805394 | 2020 | A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. | 6 |
| 29119105 | 2017 | A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. | 7 |
| 29119105 | 2017 | A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. | 7 |
| 23561846 | 2013 | Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. | 44 |
| 23561847 | 2013 | PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. | 52 |
| 23561846 | 2013 | Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. | 44 |
| 23561847 | 2013 | PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. | 52 |
Citation
Dessen P
PGAP2 (post-GPI attachment to proteins 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40638/pgap2
