Gene Gene information from NCBI Gene database.
Entrez ID 84720
Gene name Phosphatidylinositol glycan anchor biosynthesis class O
Gene symbol PIGO
Synonyms (NCBI Gene)
HPMRS2hGPCR43
Chromosome 9
Chromosome location 9p13.3
Summary 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.
32
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.
645
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0006506 Process GPI anchor biosynthetic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614730 23215 ENSG00000165282
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
916
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperphosphatasia with intellectual disability syndrome 1 Pathogenic rs1587162510 RCV000856762
Hyperphosphatasia with intellectual disability syndrome 2 Likely pathogenic; Pathogenic rs1214104267, rs2131073372, rs2131074060, rs2131074579, rs1209271799, rs765723177, rs750636989, rs2131077198, rs2131075608, rs1829507609, rs757441073, rs1276296360, rs1244103739, rs756803653, rs2490463730
View all (48 more)
RCV001378691
RCV001384647
RCV001390718
RCV001380142
RCV001382574
RCV001382941
RCV001939478
RCV001896085
RCV001993340
RCV001953672
RCV002288451
RCV003074442
RCV003079162
RCV003110743
RCV002586682
RCV002600475
RCV002667422
RCV002705780
RCV002856919
RCV002867664
RCV003026513
RCV003059445
RCV003054177
RCV000358032
RCV003534086
RCV003534161
RCV003531515
RCV003531535
RCV003531796
RCV003532408
RCV003646049
RCV003646290
RCV003646492
RCV003646493
RCV003646771
RCV003819142
RCV001044517
RCV000779581
RCV000029245
RCV000029246
RCV000029247
RCV000650489
RCV000705922
RCV000699892
RCV000696325
RCV000696328
RCV000685434
RCV001039522
RCV000779580
RCV000811662
RCV000802291
RCV000813290
RCV000806267
RCV000799847
RCV000851190
RCV001057564
RCV001037273
RCV001056485
RCV001198449
RCV001224366
RCV001226010
RCV001237288
RCV001226733
RCV001264736
RCV001264735
RCV001270714
Hyperphosphatasia-intellectual disability syndrome Likely pathogenic; Pathogenic rs774508288, rs1587159769 RCV000611172
RCV000825540
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs77344591 RCV005894247
Aganglionic megacolon Uncertain significance rs1587176408 RCV000856597
Cervical cancer Likely benign rs752829826 RCV005921084
Cholangiocarcinoma Benign; Likely benign rs77344591 RCV005894252
Associations from Text MiningDisease associations identified through Pubtator
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