phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

Summary
Gene Symbol
  • PIGG
Aliases
  • FLJ20265
  • GPI ethanolamine phosphate transferase 2
  • GPI7
  • LAS21
  • LAS21 (GPI7) homolog (S. cerevisiae)
Organism
Homo sapiens (human)
External Links
NCBI Gene
54872
GGDB ID
HGNC
25985
mRNA
map
  • 4p16.3
Protein
KEGG Gene ID
hsa:54872
PubChem
54872
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Intellectual disability
  • Proteomics identification
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 4 entries
UniProt Protein Name
D6RFE8
Q8NCI4
Q5H8A4
  • GPI7 homolog
  • Phosphatidylinositol-glycan biosynthesis class G protein
E7EWV1
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
GPI anchor biosynthetic process
preassembly of GPI anchor in ER membrane
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg229
Gene Symbol
  • PIGG
KEGG BRITE Database
Orthology
K05310
Name
ethanolamine phosphate transferase 2 subunit G [EC:2.7.-.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05924
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:1059 intellectual disability
DOID:11832 visual epilepsy
DOID:1443 cerebral degeneration
DOID:1826 epilepsy
DOID:3891 placental insufficiency
DOID:8927 learning disability
The Human Phenotype Ontology
Displaying entries 1 - 10 of 120 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000077 Abnormality of the kidney
HP:0000078 Abnormality of the genital system
HP:0000079 Abnormality of the urinary system
HP:0000153 Abnormality of the mouth
HP:0000159 Abnormal lip morphology
HP:0000175 Cleft palate
HP:0000204 Cleft upper lip
Displaying all 3 entries
Disease ID Disease Name
ORPHA:488635
  • intellectual disability, autosomal recessive 53
ORPHA:280
  • Wolf-Hirschhorn syndrome
OMIM:616917
  • intellectual disability, autosomal recessive 53
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006740
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class G

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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