post-GPI attachment to proteins 2

Summary
Gene Symbol
  • PGAP2
Aliases
  • CWH43-N
  • FGF receptor activating protein 1
  • FRAG1
  • cell wall biogenesis 43 N-terminal homolog (S. cerevisiae)
Organism
Homo sapiens (human)
External Links
NCBI Gene
27315
HGNC
17893
KEGG Gene ID
hsa:27315
PubChem
27315
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Golgi apparatus
  • Intellectual disability
  • Proteomics identification
  • Receptor
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 7 entries
UniProt Protein Name
A8MYS5
Q9UHJ9
  • FGF receptor-activating protein 1
A0A024RCD5
H0YDQ4
B7Z2X5
A0A0S2Z568
A0A0A0MS75
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
Displaying 1 entry
GO Term Evidence Code PMID
protein binding
Human Protein Atlas
ENSG00000148985

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K23552
Name
post-GPI attachment to proteins factor 2
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 35 in total
DO ID Disease Name Source
DOID:0050459 hyperphosphatemia
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060476 Perlman syndrome
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0070435 hyperphosphatasia with impaired intellectual development syndrome 3
DOID:0080351 CLOVES syndrome
DOID:0110213 isolated cleft palate
DOID:10003 sensorineural hearing loss
The Human Phenotype Ontology
Displaying entries 1 - 10 of 87 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000126 Hydronephrosis
HP:0000154 Wide mouth
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
Displaying all 2 entries
Disease ID Disease Name
OMIM:614207
  • hyperphosphatasia with intellectual disability syndrome 3
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024