• Gene id: 55650

Gene Summary

• Gene Symbol: PIGV   Gene   UCSC   Ensembl
• Aliases: GPI-MT-II, HPMRS1, PIG-V
• Gene name: phosphatidylinositol glycan anchor biosynthesis class V
• Alternate names: GPI mannosyltransferase 2, GPI mannosyltransferase II, Ybr004c homolog, dol-P-Man dependent GPI mannosyltransferase,
• Gene location: 1p36.11 (182789448: 182830383)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 610274

Protein Summary

• Protein general information: Q9NUD9  
  • Name: GPI mannosyltransferase 2 (EC 2.4.1. ) (GPI mannosyltransferase II) (GPI MT II) (Phosphatidylinositol glycan biosynthesis class V protein) (PIG V)
  • Length: 493  
  • Mass: 55713
• Sequence:

  MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEHFLFIA
  EHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCLVLHCPHQSFY
  AALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSL
  TMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDV
  PLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQRSKNNKTLEKPDLGFL
  SPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHLLQDQEPLLRSLKTVPWKPLAEDSPPGQKVP
  RNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFLPWT

• Structural information:
  • Interpro: IPR007315  
  • STRING: ENSP00000363260
• Other Databases: GeneCards:  PIGV  Malacards:  PIGV

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000030	mannosyltransferase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0031501	mannosyltransferase complex	IBA	cellular component
GO:0000009	alpha-1,6-mannosyltransferase activity	IEA	molecular function
GO:0004376	glycolipid mannosyltransferase activity	IEA	molecular function
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0004376	glycolipid mannosyltransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0016254	preassembly of GPI anchor in ER membrane	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0097502	mannosylation	IEA	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006506	GPI anchor biosynthetic process	IGI	biological process
GO:0006506	GPI anchor biosynthetic process	IGI	biological process
GO:0006506	GPI anchor biosynthetic process	IMP	biological process
GO:0000030	mannosyltransferase activity	IGI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0000030	mannosyltransferase activity	IGI	molecular function
GO:0000030	mannosyltransferase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00563	Glycosylphosphatidylinositol

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray