Gene Gene information from NCBI Gene database.
Entrez ID 94005
Gene name Phosphatidylinositol glycan anchor biosynthesis class S
Gene symbol PIGS
Synonyms (NCBI Gene)
DEE95GPIBD18PIG-S
Chromosome 17
Chromosome location 17q11.2
Summary This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1263517814 C>T Likely-pathogenic Coding sequence variant, stop gained
rs1426262136 T>C Likely-pathogenic Missense variant, coding sequence variant
rs1567614073 TTGCCCAGAAGCTGCGCCAGGGAGGTAAGGGTGGTGG>AGCAACC Pathogenic Coding sequence variant, inframe indel
rs1567616570 C>G Pathogenic Splice donor variant
rs1567618413 A>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1091
miRTarBase ID miRNA Experiments Reference
MIRT023832 hsa-miR-1-3p Proteomics 18668040
MIRT051472 hsa-let-7e-5p CLASH 23622248
MIRT050805 hsa-miR-17-5p CLASH 23622248
MIRT049567 hsa-miR-92a-3p CLASH 23622248
MIRT043511 hsa-miR-331-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11483512, 12802054, 25416956, 32296183, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane NAS 12802054
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610271 14937 ENSG00000087111
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S52
Protein name GPI-anchor transamidase component PIGS (Phosphatidylinositol-glycan biosynthesis class S protein)
Protein function Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis. {ECO:0000269|
PDB 7W72 , 7WLD , 8IMX , 8IMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10510 PIG-S 22 547 Phosphatidylinositol-glycan biosynthesis class S protein Family
Sequence
Sequence length 555
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Attachment of GPI anchor to uPAR
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
31
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glycosylphosphatidylinositol biosynthesis defect 18 Pathogenic; Likely pathogenic rs1243182982, rs2070332383, rs2151511848, rs769890071, rs1249675321, rs1263517814, rs1567618413, rs1567614073, rs1426262136, rs1567616570 RCV001449569
RCV001449570
RCV001449571
RCV001449572
RCV001449573
RCV000710004
RCV000710005
RCV000710006
RCV000710007
RCV000710008
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PIGS-related disorder Benign; Likely benign rs143746801, rs201299252, rs373354668, rs34489987, rs202057961, rs61755367, rs115528118, rs372172502, rs114961784, rs148979149, rs778022172, rs115821050, rs373522166, rs35452097, rs34669811 RCV003931346
RCV003956384
RCV003966309
RCV003928975
RCV003929084
RCV003938951
RCV003929085
RCV003914270
RCV003959259
RCV003937019
RCV003951454
RCV003958980
RCV003971464
RCV003978311
RCV003916084
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 30269814
Breast Neoplasms Associate 18487995
Developmental Disabilities Associate 30269814
Glycosylphosphatidylinositol deficiency Associate 30269814
Immunologic Deficiency Syndromes Associate 30269814
Muscle Hypotonia Associate 30269814
Muscle Weakness Associate 30269814
Neoplastic Syndromes Hereditary Associate 30269814
Thakker Donnai syndrome Associate 30269814