Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84720
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class O
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGO
Synonyms (NCBI Gene) Gene synonyms aliases
HPMRS2, hGPCR43
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HPMRS2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138028827 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs140470862 G>A,C Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs142164373 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs149171782 C>T Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs149439295 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT040643 hsa-miR-92b-3p CLASH 23622248
MIRT718984 hsa-miR-4640-3p HITS-CLIP 19536157
MIRT718983 hsa-miR-1207-3p HITS-CLIP 19536157
MIRT718982 hsa-miR-412-3p HITS-CLIP 19536157
MIRT718981 hsa-miR-6754-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0006506 Process GPI anchor biosynthetic process IBA 21873635
GO:0006506 Process GPI anchor biosynthetic process IEA
GO:0006506 Process GPI anchor biosynthetic process ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614730 23215 ENSG00000165282
Protein
UniProt ID Q8TEQ8
Protein name GPI ethanolamine phosphate transferase 3, catalytic subunit (EC 2.-.-.-) (Phosphatidylinositol-glycan biosynthesis class O protein) (PIG-O) (hGPCR43)
Protein function Catalytic subunit of the ethanolamine phosphate transferase 3 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third alpha-1,2-linked mannose of an alpha-D-Man-(1->2)-alpha-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01663 Phosphodiest 122 296 Type I phosphodiesterase / nucleotide pyrophosphatase Family
Sequence
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGA
CWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARL
YRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDD
TWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHK
HGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSA
ALFL
YSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSA
LAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEAT
LPTVIAELQQFLRGARAMCIESWARFSLVRMAGGTALLAASCFICLLASQWAISPGFPFC
PLLLTPVAWGLVGAIAYAGLLGTIELKLDLVLLGAVAAVSSFLPFLWKAWAGWGSKRPLA
TLFPIPGPVLLLLLFRLAVFFSDSFVVAEARATPFLLGSFILLLVVQLHWEGQLLPPKLL
TMPRLGTSATTNPPRHNGAYALRLGIGLLLCTRLAGLFHRCPEETPVCHSSPWLSPLASM
VGGRAKNLWYGACVAALVALLAAVRLWLRRYGNLKSPEPPMLFVRWGLPLMALGTAAYWA
LASGADEAPPRLRVLVSGASMVLPRAVAGLAASGLALLLWKPVTVLVKAGAGAPRTRTVL
TPFSGPPTSQADLDYVVPQIYRHMQEEFRGRLERTKSQGPLTVAAYQLGSVYSAAMVTAL
TLLAFPLLLLHAERISLVFLLLFLQSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMAT
QTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLW
PFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFIL
GIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWF
RQLFLAQQR
Sequence length 1089
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
Unknown
Disease term Disease name Evidence References Source
Hyperphosphatasia With Mental Retardation hyperphosphatasia with intellectual disability syndrome 2, hyperphosphatasia-intellectual disability syndrome GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Brain Diseases Associate 24417746
Developmental Disabilities Associate 24417746
Drug Resistant Epilepsy Associate 24417746
Glycosylphosphatidylinositol deficiency Associate 24417746
Hyperostosis corticalis deformans juvenilis Associate 22683086, 30813920
Hyperphosphatasia with Mental Retardation Associate 22683086, 24129430, 24417746, 30813920
Intellectual Disability Associate 22683086, 23561847, 30813920
Muscle Hypotonia Associate 23561847
Prostatic Neoplasms Associate 37924098
Seizures Associate 23561847