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	84992
Gene name	Phosphatidylinositol glycan anchor biosynthesis class Y
Gene symbol	PIGY
Synonyms (NCBI Gene)	HPMRS6PIG-Y
Chromosome	4
Chromosome location	4q22.1
Summary	The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many

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Show/Hide all (145)

miRTarBase ID	miRNA	Experiments
MIRT1233734	hsa-miR-105	CLIP-seq
MIRT1233735	hsa-miR-1273g	CLIP-seq
MIRT1233736	hsa-miR-134	CLIP-seq
MIRT1233737	hsa-miR-137	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT1233742	hsa-miR-23a	CLIP-seq
MIRT1233743	hsa-miR-23b	CLIP-seq
MIRT1233744	hsa-miR-23c	CLIP-seq
MIRT1233745	hsa-miR-299-3p	CLIP-seq
MIRT1233746	hsa-miR-3074-3p	CLIP-seq
MIRT1233747	hsa-miR-3118	CLIP-seq
MIRT1233748	hsa-miR-3121-5p	CLIP-seq
MIRT1233749	hsa-miR-3126-5p	CLIP-seq
MIRT1233750	hsa-miR-3143	CLIP-seq
MIRT1233751	hsa-miR-3164	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT1233753	hsa-miR-3607-5p	CLIP-seq
MIRT1233754	hsa-miR-3646	CLIP-seq
MIRT1233755	hsa-miR-3671	CLIP-seq
MIRT1233756	hsa-miR-3673	CLIP-seq
MIRT1233757	hsa-miR-4287	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT1233759	hsa-miR-4328	CLIP-seq
MIRT1233760	hsa-miR-4469	CLIP-seq
MIRT1233761	hsa-miR-4491	CLIP-seq
MIRT1233762	hsa-miR-4496	CLIP-seq
MIRT1233763	hsa-miR-4501	CLIP-seq
MIRT1233764	hsa-miR-4639-5p	CLIP-seq
MIRT1233765	hsa-miR-4657	CLIP-seq
MIRT1233766	hsa-miR-4670-3p	CLIP-seq
MIRT1233767	hsa-miR-4685-3p	CLIP-seq
MIRT1233768	hsa-miR-4704-3p	CLIP-seq
MIRT1233769	hsa-miR-4768-5p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT1233772	hsa-miR-4790-3p	CLIP-seq
MIRT1233773	hsa-miR-4793-5p	CLIP-seq
MIRT1233774	hsa-miR-483-3p	CLIP-seq
MIRT1233775	hsa-miR-493	CLIP-seq
MIRT1233776	hsa-miR-499-3p	CLIP-seq
MIRT1233777	hsa-miR-499a-3p	CLIP-seq
MIRT1233778	hsa-miR-505	CLIP-seq
MIRT1233779	hsa-miR-520d-5p	CLIP-seq
MIRT1233780	hsa-miR-524-5p	CLIP-seq
MIRT1233781	hsa-miR-548ag	CLIP-seq
MIRT1233782	hsa-miR-548ai	CLIP-seq
MIRT1233783	hsa-miR-586	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT1233785	hsa-miR-607	CLIP-seq
MIRT1233786	hsa-miR-877	CLIP-seq
MIRT1233787	hsa-miR-944	CLIP-seq
MIRT1233787	hsa-miR-944	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233772	hsa-miR-4790-3p	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2295869	hsa-miR-3182	CLIP-seq
MIRT1233759	hsa-miR-4328	CLIP-seq
MIRT2295870	hsa-miR-4659a-3p	CLIP-seq
MIRT2295871	hsa-miR-4659b-3p	CLIP-seq
MIRT2295872	hsa-miR-4698	CLIP-seq
MIRT2295873	hsa-miR-4762-3p	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593897	hsa-miR-1236	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2593898	hsa-miR-3124-3p	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593899	hsa-miR-3653	CLIP-seq
MIRT2593900	hsa-miR-3658	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT2593901	hsa-miR-4436b-5p	CLIP-seq
MIRT2593902	hsa-miR-4477a	CLIP-seq
MIRT2593903	hsa-miR-4522	CLIP-seq
MIRT2593904	hsa-miR-4687-3p	CLIP-seq
MIRT2593905	hsa-miR-4715-5p	CLIP-seq
MIRT2593906	hsa-miR-4722-3p	CLIP-seq
MIRT2593907	hsa-miR-4753-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT2593908	hsa-miR-532-3p	CLIP-seq
MIRT2593909	hsa-miR-548m	CLIP-seq
MIRT2593910	hsa-miR-556-3p	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT2593911	hsa-miR-647	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2593912	hsa-miR-942	CLIP-seq
MIRT2593897	hsa-miR-1236	CLIP-seq
MIRT2295867	hsa-miR-1279	CLIP-seq
MIRT1233738	hsa-miR-188-3p	CLIP-seq
MIRT1233739	hsa-miR-190	CLIP-seq
MIRT1233740	hsa-miR-190b	CLIP-seq
MIRT1233741	hsa-miR-1910	CLIP-seq
MIRT2295868	hsa-miR-3120-3p	CLIP-seq
MIRT2593898	hsa-miR-3124-3p	CLIP-seq
MIRT1233752	hsa-miR-330-3p	CLIP-seq
MIRT2432127	hsa-miR-335	CLIP-seq
MIRT2593899	hsa-miR-3653	CLIP-seq
MIRT2593900	hsa-miR-3658	CLIP-seq
MIRT1233756	hsa-miR-3673	CLIP-seq
MIRT2432128	hsa-miR-3919	CLIP-seq
MIRT2432129	hsa-miR-3942-3p	CLIP-seq
MIRT2068816	hsa-miR-4252	CLIP-seq
MIRT1233758	hsa-miR-4293	CLIP-seq
MIRT2593901	hsa-miR-4436b-5p	CLIP-seq
MIRT2593902	hsa-miR-4477a	CLIP-seq
MIRT2593904	hsa-miR-4687-3p	CLIP-seq
MIRT1233768	hsa-miR-4704-3p	CLIP-seq
MIRT2593905	hsa-miR-4715-5p	CLIP-seq
MIRT2593906	hsa-miR-4722-3p	CLIP-seq
MIRT2593907	hsa-miR-4753-3p	CLIP-seq
MIRT2432130	hsa-miR-4756-3p	CLIP-seq
MIRT1233770	hsa-miR-4775	CLIP-seq
MIRT1233771	hsa-miR-4787-3p	CLIP-seq
MIRT1233773	hsa-miR-4793-5p	CLIP-seq
MIRT2593908	hsa-miR-532-3p	CLIP-seq
MIRT2593909	hsa-miR-548m	CLIP-seq
MIRT2593910	hsa-miR-556-3p	CLIP-seq
MIRT1233784	hsa-miR-590-3p	CLIP-seq
MIRT2593911	hsa-miR-647	CLIP-seq
MIRT2295874	hsa-miR-889	CLIP-seq
MIRT2068817	hsa-miR-892a	CLIP-seq
MIRT2593912	hsa-miR-942	CLIP-seq
MIRT1233787	hsa-miR-944	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	16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0005515	Function	Protein binding	IPI	16162815, 32296183
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
GO:0005886	Component	Plasma membrane	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA	16162815

MIM	HGNC	e!Ensembl
610662	28213	ENSG00000255072

Q3MUY2

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y (Phosphatidylinositol-glycan biosynthesis class Y protein) (PIG-Y)

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
PF15159	PIG-Y	2 → 70	Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y	Family

Sequence

MFLSLPTLTVLIPLVSLAGLFYSASVEENFPQGCTSTASLCFYSLLLPITIPVYVFFHLW
TWMGIKLFRHN

Sequence length

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperphosphatasia with intellectual disability syndrome 6	Pathogenic	rs869025322, rs869025323	RCV000207478 RCV000207473	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
HYPERPHOSPHATASEMIA WITH INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH MENTAL RETARDATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (46)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Accessory nipple	Accessory Nipple	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
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	19302917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	26293662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	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
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26293662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	26293662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Echogenic Bowel	Echogenic Bowel	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol Deficiency	GENOMICS_ENGLAND_DG	26293662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	ORPHANET_DG	26293662		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia with intellectual disability syndrome	Pubtator	30813920	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6	Hyperphosphatasia With Mental Retardation	UNIPROT_DG	26293662		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6	Hyperphosphatasia With Mental Retardation	GENOMICS_ENGLAND_DG	26293662		★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6	Hyperphosphatasia With Mental Retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatasia-intellectual disability syndrome	Hyperphosphatasia With Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26293662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGY (phosphatidylinositol glycan anchor biosynthesis class Y)