PGAP2 (post-GPI attachment to proteins 2)

2003-02-01  

Identity

HGNC
PGAP2
LOCATION
11p15.4
LOCUSID
27315
ALIAS
CWH43-N,FRAG1,HPMRS3,MRT17,MRT21
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27315
MIM: 615187
HGNC: 17893
Ensembl: ENSG00000148985

Variants:

dbSNP: 27315
ClinVar: 27315
TCGA: ENSG00000148985
COSMIC: PGAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148985ENST00000278243Q9UHJ9
ENSG00000148985ENST00000278243A0A024RCC6
ENSG00000148985ENST00000300730Q9UHJ9
ENSG00000148985ENST00000396986A8MYS5
ENSG00000148985ENST00000396991A0A0A0MS75
ENSG00000148985ENST00000396993A8MZF5
ENSG00000148985ENST00000459679H0YDJ5
ENSG00000148985ENST00000463452Q9UHJ9
ENSG00000148985ENST00000463452A0A024RCD5
ENSG00000148985ENST00000464229E9PKT0
ENSG00000148985ENST00000464261H0YDQ4
ENSG00000148985ENST00000464441A8MZF5
ENSG00000148985ENST00000464906Q9UHJ9
ENSG00000148985ENST00000464906A0A024RCC6
ENSG00000148985ENST00000465307B7Z2X5
ENSG00000148985ENST00000469307E9PQ19
ENSG00000148985ENST00000475884H0YCQ4
ENSG00000148985ENST00000477358H0YCQ4
ENSG00000148985ENST00000479072E9PKT0
ENSG00000148985ENST00000489571E9PRZ2
ENSG00000148985ENST00000490830H0YEE9
ENSG00000148985ENST00000493547Q9UHJ9
ENSG00000148985ENST00000496834A8MZF5
ENSG00000148985ENST00000524661E9PRZ2
ENSG00000148985ENST00000528216E9PRZ2
ENSG00000148985ENST00000532017E9PRZ2
ENSG00000148985ENST00000532523H0YDC6

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
318053942020A 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
318053942020A 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
291191052017A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.7
291191052017A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.7
235618462013Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.44
235618472013PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.52
235618462013Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.44
235618472013PGAP2 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/teaching-explorer/case-report-explorer/css/lib/bootstrap.min.css