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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hyperphosphatasia with intellectual disability syndrome 1 Pathogenic rs1587162510 RCV000856762
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (61 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphosphatasia-intellectual disability syndrome Likely pathogenic; Pathogenic rs774508288, rs1587159769 RCV000611172
RCV000825540
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple HPO_DG
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 24417746 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Class III malocclusion Malocclusion HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Clinodactyly of fingers Clinodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only