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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55650
Gene name	Phosphatidylinositol glycan anchor biosynthesis class V
Gene symbol	PIGV
Synonyms (NCBI Gene)	GPI-MT-IIHPMRS1PIG-V
Chromosome	1
Chromosome location	1p36.11
Summary	This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139073416	C>A,T	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs142192097	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs146969255	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs148662665	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs267606951	A>C,G	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs267606952	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs376328153	C>A	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs387907023	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs759988046	C>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs766452597	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs774605091	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1418108487	->A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant

133

Show/Hide all (133)

miRTarBase ID	miRNA	Experiments	Reference
MIRT535230	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT535229	hsa-miR-3159	PAR-CLIP	22012620
MIRT535227	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535228	hsa-miR-4740-3p	PAR-CLIP	22012620
MIRT535226	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535225	hsa-miR-5095	PAR-CLIP	22012620
MIRT535224	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT535230	hsa-miR-552-3p	PAR-CLIP	22012620
MIRT535229	hsa-miR-3159	PAR-CLIP	22012620
MIRT535227	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT535228	hsa-miR-4740-3p	PAR-CLIP	22012620
MIRT535226	hsa-miR-6778-3p	PAR-CLIP	22012620
MIRT535225	hsa-miR-5095	PAR-CLIP	22012620
MIRT535224	hsa-miR-7151-3p	PAR-CLIP	22012620
MIRT1233605	hsa-miR-3157-3p	CLIP-seq
MIRT1233606	hsa-miR-4282	CLIP-seq
MIRT1233607	hsa-miR-4676-5p	CLIP-seq
MIRT1233608	hsa-miR-575	CLIP-seq
MIRT1233609	hsa-miR-874	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2068759	hsa-miR-365	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2068762	hsa-miR-3942-3p	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2068766	hsa-miR-532-5p	CLIP-seq
MIRT2068767	hsa-miR-634	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2392513	hsa-miR-1251	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2392514	hsa-miR-3660	CLIP-seq
MIRT2392515	hsa-miR-4526	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2593867	hsa-miR-1208	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2593868	hsa-miR-151-3p	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT2593869	hsa-miR-1972	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2593870	hsa-miR-3673	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2593871	hsa-miR-3934	CLIP-seq
MIRT2593872	hsa-miR-412	CLIP-seq
MIRT2593873	hsa-miR-4252	CLIP-seq
MIRT2593874	hsa-miR-4305	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT2593875	hsa-miR-4650-5p	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2593876	hsa-miR-4781-3p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2593877	hsa-miR-593	CLIP-seq
MIRT2593878	hsa-miR-607	CLIP-seq
MIRT2593879	hsa-miR-890	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq
MIRT2392512	hsa-miR-1200	CLIP-seq
MIRT2593867	hsa-miR-1208	CLIP-seq
MIRT2687881	hsa-miR-1269	CLIP-seq
MIRT2687882	hsa-miR-1269b	CLIP-seq
MIRT2687883	hsa-miR-1288	CLIP-seq
MIRT2687884	hsa-miR-147	CLIP-seq
MIRT2068757	hsa-miR-150	CLIP-seq
MIRT2593868	hsa-miR-151-3p	CLIP-seq
MIRT1233610	hsa-miR-1827	CLIP-seq
MIRT1233611	hsa-miR-1915	CLIP-seq
MIRT2593869	hsa-miR-1972	CLIP-seq
MIRT1233612	hsa-miR-2467-3p	CLIP-seq
MIRT1233613	hsa-miR-2682	CLIP-seq
MIRT2068758	hsa-miR-3117-5p	CLIP-seq
MIRT2687885	hsa-miR-3138	CLIP-seq
MIRT2068759	hsa-miR-365	CLIP-seq
MIRT2593870	hsa-miR-3673	CLIP-seq
MIRT2068760	hsa-miR-374a	CLIP-seq
MIRT2068761	hsa-miR-374b	CLIP-seq
MIRT2687886	hsa-miR-3911	CLIP-seq
MIRT2687887	hsa-miR-3919	CLIP-seq
MIRT2593871	hsa-miR-3934	CLIP-seq
MIRT2593872	hsa-miR-412	CLIP-seq
MIRT2593873	hsa-miR-4252	CLIP-seq
MIRT2593874	hsa-miR-4305	CLIP-seq
MIRT2068763	hsa-miR-4311	CLIP-seq
MIRT1233614	hsa-miR-4436b-3p	CLIP-seq
MIRT1233615	hsa-miR-449c	CLIP-seq
MIRT2687888	hsa-miR-4515	CLIP-seq
MIRT2593875	hsa-miR-4650-5p	CLIP-seq
MIRT1233616	hsa-miR-4685-5p	CLIP-seq
MIRT2068764	hsa-miR-4713-5p	CLIP-seq
MIRT1233617	hsa-miR-4726-3p	CLIP-seq
MIRT2687889	hsa-miR-4740-5p	CLIP-seq
MIRT2593876	hsa-miR-4781-3p	CLIP-seq
MIRT2687890	hsa-miR-4797-5p	CLIP-seq
MIRT2687891	hsa-miR-4800-5p	CLIP-seq
MIRT2068765	hsa-miR-532-3p	CLIP-seq
MIRT2068766	hsa-miR-532-5p	CLIP-seq
MIRT2687892	hsa-miR-581	CLIP-seq
MIRT2593877	hsa-miR-593	CLIP-seq
MIRT2687893	hsa-miR-600	CLIP-seq
MIRT2593878	hsa-miR-607	CLIP-seq
MIRT2068767	hsa-miR-634	CLIP-seq
MIRT2687894	hsa-miR-644	CLIP-seq
MIRT2593879	hsa-miR-890	CLIP-seq
MIRT1233618	hsa-miR-922	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IEA
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IGI	15623507, 15720390
GO:0000009	Function	Alpha-1,6-mannosyltransferase activity	IMP	15623507
GO:0000030	Function	Mannosyltransferase activity	IBA
GO:0004376	Function	GPI mannosyltransferase activity	IEA
GO:0004376	Function	GPI mannosyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	15623507
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IGI	15623507, 15720390
GO:0006506	Process	GPI anchor biosynthetic process	IMP	15623507
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0031501	Component	Mannosyltransferase complex	IBA

MIM	HGNC	e!Ensembl
610274	26031	ENSG00000060642

Q9NUD9

Protein name

GPI alpha-1,6-mannosyltransferase 2 (EC 2.4.1.-) (GPI mannosyltransferase II) (GPI-MT-II) (Phosphatidylinositol-glycan biosynthesis class V protein) (PIG-V)

Protein function

Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to the alpha-D-Man-(1->4)-alpha-D-GlcN-(1->6)-(1-radyl,2-acyl-sn-glycero-3-phospho)-2-acyl-inos

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04188	Mannosyl_trans2	8 → 493	Mannosyltransferase (PIG-V)	Family

Sequence

MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLL
GGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVA
SLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSA
MGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMAS
LFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDV
PLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQR
SKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHL
LQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWL
LGLLLHCNFLPWT

Sequence length

493

Interactions

View interactions

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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperphosphatasia with intellectual disability syndrome 1	Likely pathogenic; Pathogenic	rs139073416, rs267606951, rs267606952, rs387907023, rs759988046, rs149690056	RCV000001347 RCV000001348 RCV000001349 RCV000001350 RCV000023806 RCV000660523 RCV001262427
Hyperphosphatasia-intellectual disability syndrome	Likely pathogenic; Pathogenic	rs139073416	RCV000613584
PIGV-related disorder	Likely pathogenic; Pathogenic	rs139073416	RCV004739277

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Elevated circulating alkaline phosphatase concentration	Conflicting classifications of pathogenicity	rs774605091	RCV001533552

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anorectal Malformations	Associate	24129430
Berk Tabatznik syndrome	Associate	24129430
Capillary Malformation Arteriovenous Malformation	Associate	24129430, 29310717
Developmental Disabilities	Associate	24129430
Hernias Diaphragmatic Congenital	Associate	29310717
Hirschsprung Disease	Associate	24129430, 29310717
Hyperostosis corticalis deformans juvenilis	Associate	22683086, 24129430, 30813920
Hyperphosphatasia with Mental Retardation	Associate	22683086, 24129430, 24417746, 30813920
Hypertension	Associate	32410228
Intellectual Disability	Associate	23561847, 24129430, 30813920
Muscle Hypotonia	Associate	23561847
Orofaciodigital syndrome 11	Associate	24129430
Papillorenal syndrome	Associate	24129430
Seizures	Associate	23561847

PIGV (phosphatidylinositol glycan anchor biosynthesis class V)