Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5279
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGC
Synonyms (NCBI Gene) Gene synonyms aliases
GPI2, GPIBD16, MRT62
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surfac
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT027669 hsa-miR-98-5p Microarray 19088304
MIRT037438 hsa-miR-744-5p CLASH 23622248
MIRT1233207 hsa-miR-1258 CLIP-seq
MIRT1233208 hsa-miR-1284 CLIP-seq
MIRT1233209 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 10944123, 16162815
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI 16162815
GO:0003824 Function Catalytic activity TAS 8806613
GO:0005515 Function Protein binding IPI 9463366, 10944123
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601730 8960 ENSG00000135845
Protein
UniProt ID Q92535
Protein name Phosphatidylinositol N-acetylglucosaminyltransferase subunit C (Phosphatidylinositol-glycan biosynthesis class C protein) (PIG-C)
Protein function Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynth
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06432 GPI2 14 284 Phosphatidylinositol N-acetylglucosaminyltransferase Family
Sequence
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Glycosylphosphatidylinositol deficiency glycosylphosphatidylinositol biosynthesis defect 16 rs1553259614, rs1553259602 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Nonimmune Hydrops Fetalis non-immune hydrops fetalis N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 28901494