Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5279
Gene name	Phosphatidylinositol glycan anchor biosynthesis class C
Gene symbol	PIGC
Synonyms (NCBI Gene)	GPI2GPIBD16MRT62
Chromosome	1
Chromosome location	1q24.3
Summary	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

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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
MIRT1233210	hsa-miR-140-3p	CLIP-seq
MIRT1233211	hsa-miR-2052	CLIP-seq
MIRT1233212	hsa-miR-2115	CLIP-seq
MIRT1233213	hsa-miR-2355-5p	CLIP-seq
MIRT1233214	hsa-miR-3120-3p	CLIP-seq
MIRT1233215	hsa-miR-3120-5p	CLIP-seq
MIRT1233216	hsa-miR-3168	CLIP-seq
MIRT1233217	hsa-miR-3180-5p	CLIP-seq
MIRT1233218	hsa-miR-335	CLIP-seq
MIRT1233219	hsa-miR-3664-5p	CLIP-seq
MIRT1233220	hsa-miR-3675-3p	CLIP-seq
MIRT1233221	hsa-miR-380	CLIP-seq
MIRT1233222	hsa-miR-3923	CLIP-seq
MIRT1233223	hsa-miR-3975	CLIP-seq
MIRT1233224	hsa-miR-4266	CLIP-seq
MIRT1233225	hsa-miR-4680-5p	CLIP-seq
MIRT1233226	hsa-miR-4695-3p	CLIP-seq
MIRT1233227	hsa-miR-4695-5p	CLIP-seq
MIRT1233228	hsa-miR-4753-3p	CLIP-seq
MIRT1233229	hsa-miR-4760-3p	CLIP-seq
MIRT1233230	hsa-miR-4779	CLIP-seq
MIRT1233231	hsa-miR-499-3p	CLIP-seq
MIRT1233232	hsa-miR-499a-3p	CLIP-seq
MIRT1233233	hsa-miR-511	CLIP-seq
MIRT1233234	hsa-miR-516a-3p	CLIP-seq
MIRT1233235	hsa-miR-520a-5p	CLIP-seq
MIRT1233236	hsa-miR-525-5p	CLIP-seq
MIRT1233237	hsa-miR-561	CLIP-seq
MIRT1233238	hsa-miR-579	CLIP-seq
MIRT1233239	hsa-miR-633	CLIP-seq
MIRT1233240	hsa-miR-659	CLIP-seq
MIRT1233241	hsa-miR-9	CLIP-seq
MIRT2068609	hsa-miR-1283	CLIP-seq
MIRT1233213	hsa-miR-2355-5p	CLIP-seq
MIRT1233214	hsa-miR-3120-3p	CLIP-seq
MIRT1233218	hsa-miR-335	CLIP-seq
MIRT1233221	hsa-miR-380	CLIP-seq
MIRT1233229	hsa-miR-4760-3p	CLIP-seq
MIRT1233231	hsa-miR-499-3p	CLIP-seq
MIRT1233232	hsa-miR-499a-3p	CLIP-seq
MIRT1233237	hsa-miR-561	CLIP-seq
MIRT1233238	hsa-miR-579	CLIP-seq
MIRT1233239	hsa-miR-633	CLIP-seq
MIRT1233240	hsa-miR-659	CLIP-seq
MIRT1233212	hsa-miR-2115	CLIP-seq
MIRT1233213	hsa-miR-2355-5p	CLIP-seq
MIRT2295733	hsa-miR-2964a-5p	CLIP-seq
MIRT1233214	hsa-miR-3120-3p	CLIP-seq
MIRT1233215	hsa-miR-3120-5p	CLIP-seq
MIRT1233216	hsa-miR-3168	CLIP-seq
MIRT1233217	hsa-miR-3180-5p	CLIP-seq
MIRT1233218	hsa-miR-335	CLIP-seq
MIRT1233219	hsa-miR-3664-5p	CLIP-seq
MIRT1233221	hsa-miR-380	CLIP-seq
MIRT1233223	hsa-miR-3975	CLIP-seq
MIRT1233225	hsa-miR-4680-5p	CLIP-seq
MIRT1233229	hsa-miR-4760-3p	CLIP-seq
MIRT2295734	hsa-miR-4764-5p	CLIP-seq
MIRT1233231	hsa-miR-499-3p	CLIP-seq
MIRT1233232	hsa-miR-499a-3p	CLIP-seq
MIRT1233233	hsa-miR-511	CLIP-seq
MIRT1233234	hsa-miR-516a-3p	CLIP-seq
MIRT1233235	hsa-miR-520a-5p	CLIP-seq
MIRT1233236	hsa-miR-525-5p	CLIP-seq
MIRT1233237	hsa-miR-561	CLIP-seq
MIRT1233240	hsa-miR-659	CLIP-seq
MIRT2295735	hsa-miR-676	CLIP-seq
MIRT1233207	hsa-miR-1258	CLIP-seq
MIRT1233208	hsa-miR-1284	CLIP-seq
MIRT1233212	hsa-miR-2115	CLIP-seq
MIRT1233215	hsa-miR-3120-5p	CLIP-seq
MIRT1233216	hsa-miR-3168	CLIP-seq
MIRT1233217	hsa-miR-3180-5p	CLIP-seq
MIRT1233219	hsa-miR-3664-5p	CLIP-seq
MIRT1233222	hsa-miR-3923	CLIP-seq
MIRT1233223	hsa-miR-3975	CLIP-seq
MIRT1233224	hsa-miR-4266	CLIP-seq
MIRT1233225	hsa-miR-4680-5p	CLIP-seq
MIRT1233227	hsa-miR-4695-5p	CLIP-seq
MIRT1233230	hsa-miR-4779	CLIP-seq
MIRT1233233	hsa-miR-511	CLIP-seq
MIRT1233234	hsa-miR-516a-3p	CLIP-seq
MIRT1233235	hsa-miR-520a-5p	CLIP-seq
MIRT1233236	hsa-miR-525-5p	CLIP-seq
MIRT1233207	hsa-miR-1258	CLIP-seq
MIRT1233208	hsa-miR-1284	CLIP-seq
MIRT1233212	hsa-miR-2115	CLIP-seq
MIRT1233215	hsa-miR-3120-5p	CLIP-seq
MIRT1233216	hsa-miR-3168	CLIP-seq
MIRT1233217	hsa-miR-3180-5p	CLIP-seq
MIRT1233219	hsa-miR-3664-5p	CLIP-seq
MIRT1233222	hsa-miR-3923	CLIP-seq
MIRT1233223	hsa-miR-3975	CLIP-seq
MIRT1233224	hsa-miR-4266	CLIP-seq
MIRT1233225	hsa-miR-4680-5p	CLIP-seq
MIRT1233227	hsa-miR-4695-5p	CLIP-seq
MIRT1233230	hsa-miR-4779	CLIP-seq
MIRT1233233	hsa-miR-511	CLIP-seq
MIRT1233234	hsa-miR-516a-3p	CLIP-seq
MIRT1233235	hsa-miR-520a-5p	CLIP-seq
MIRT1233236	hsa-miR-525-5p	CLIP-seq

Show/Hide all (14)

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
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	8806613
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IMP	27694521
GO:0006506	Process	GPI anchor biosynthetic process	TAS	8806613
GO:0016020	Component	Membrane	IEA

MIM	HGNC	e!Ensembl
601730	8960	ENSG00000135845

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

MYAQPVTNTKEVKWQKVLYERQPFPDNYVDRRFLEELRKNIHARKYQYWAVVFESSVVIQ
QLCSVCVFVVIWWYMDEGLLAPHWLLGTGLASSLIGYVLFDLIDGGEGRKKSGQTRWADL
KSALVFITFTYGFSPVLKTLTESVSTDTIYAMSVFMLLGHLIFFDYGANAAIVSSTLSLN
MAIFASVCLASRLPRSLHAFIMVTFAIQIFALWPMLQKKLKACTPRSYVGVTLLFAFSAV
GGLLSISAVGAVLFALLLMSISCLCPFYLIRLQLFKENIHGPWDEAEIKEDLSRFLS

Sequence length

297

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic; Pathogenic	rs2526991185	RCV001255413	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycosylphosphatidylinositol biosynthesis defect 16	Pathogenic; Likely pathogenic	rs770671752, rs1553259614, rs1553259602, rs2526991185	RCV002465423 RCV000543437 RCV000551426 RCV001175143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-immune hydrops fetalis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGC-related disorder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28901494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	Glycosylphosphatidylinositol deficiency	UNIPROT_DG	27694521		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	Glycosylphosphatidylinositol deficiency	CLINVAR_DG	27694521		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16	Glycosylphosphatidylinositol deficiency	GENOMICS_ENGLAND_DG	27694521		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30079626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30740124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGC (phosphatidylinositol glycan anchor biosynthesis class C)