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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23556
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylinositol glycan anchor biosynthesis class N
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PIGN
Synonyms (NCBI Gene) Gene synonyms aliases	GPI-ETI, MCAHS, MCAHS1, MCD4, MDC4, PIG-N
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18q21.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmi

Show/Hide all(43)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199573774	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs200199765	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs201835155	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs369486176	C>T	Pathogenic	Intron variant
rs376226764	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs376355678	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs397514475	C>T	Pathogenic	Missense variant, coding sequence variant
rs548412299	A>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs558341655	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587777186	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777187	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs746882521	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs749334082	A>T	Pathogenic	Stop gained, coding sequence variant
rs750418747	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs759453664	C>A,T	Likely-pathogenic	Splice acceptor variant
rs760977825	C>G	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs768557691	->A	Pathogenic	Frameshift variant, coding sequence variant
rs773629540	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs776697598	->C	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs779636222	ACAAACCT>-	Likely-pathogenic, pathogenic	Splice donor variant, intron variant, coding sequence variant
rs886039216	T>A	Pathogenic	Coding sequence variant, missense variant
rs886039217	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039218	T>A	Pathogenic	Coding sequence variant, stop gained
rs886041514	CC>TT	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1057518061	C>G	Likely-pathogenic	Intron variant
rs1060499763	A>C	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1064793808	TTA>CT	Likely-pathogenic	Stop gained, intron variant, inframe indel, coding sequence variant
rs1251827296	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1287655964	C>A,T	Pathogenic	Splice donor variant
rs1382897257	G>A	Pathogenic	Coding sequence variant, stop gained
rs1462805697	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1555682938	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555683948	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555685797	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1555694770	C>T	Likely-pathogenic	Splice donor variant
rs1555696769	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555696900	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1568224018	C>A	Likely-pathogenic	Splice donor variant
rs1599520660	A>T	Likely-pathogenic	Splice donor variant
rs1599525360	C>T	Likely-pathogenic	Splice acceptor variant
rs1599531710	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1599554145	ACTTCA>G	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1599663316	G>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(177)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016952	hsa-miR-335-5p	Microarray	18185580
MIRT030697	hsa-miR-21-5p	Microarray	18591254
MIRT052542	hsa-let-7a-5p	CLASH	23622248
MIRT051603	hsa-let-7e-5p	CLASH	23622248
MIRT048378	hsa-miR-29b-3p	CLASH	23622248
MIRT529120	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT529119	hsa-miR-641	PAR-CLIP	22012620
MIRT529117	hsa-miR-3924	PAR-CLIP	22012620
MIRT529118	hsa-miR-337-3p	PAR-CLIP	22012620
MIRT529116	hsa-miR-202-5p	PAR-CLIP	22012620
MIRT529115	hsa-miR-568	PAR-CLIP	22012620
MIRT529120	hsa-miR-3617-5p	PAR-CLIP	22012620
MIRT529119	hsa-miR-641	PAR-CLIP	22012620
MIRT529117	hsa-miR-3924	PAR-CLIP	22012620
MIRT529118	hsa-miR-337-3p	PAR-CLIP	22012620
MIRT529116	hsa-miR-202-5p	PAR-CLIP	22012620
MIRT529115	hsa-miR-568	PAR-CLIP	22012620
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT1233420	hsa-miR-1323	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT1233435	hsa-miR-548an	CLIP-seq
MIRT1233436	hsa-miR-548o	CLIP-seq
MIRT1233437	hsa-miR-577	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq
MIRT1233440	hsa-miR-139-5p	CLIP-seq
MIRT1233441	hsa-miR-3120-3p	CLIP-seq
MIRT1233442	hsa-miR-3157-5p	CLIP-seq
MIRT1233443	hsa-miR-3667-3p	CLIP-seq
MIRT1233444	hsa-miR-4267	CLIP-seq
MIRT1233445	hsa-miR-4277	CLIP-seq
MIRT1233446	hsa-miR-4420	CLIP-seq
MIRT1233447	hsa-miR-4691-3p	CLIP-seq
MIRT1233448	hsa-miR-4774-5p	CLIP-seq
MIRT1233449	hsa-miR-582-5p	CLIP-seq
MIRT2068682	hsa-miR-3974	CLIP-seq
MIRT2295792	hsa-miR-1206	CLIP-seq
MIRT2295793	hsa-miR-223	CLIP-seq
MIRT2295794	hsa-miR-4328	CLIP-seq
MIRT2295795	hsa-miR-433	CLIP-seq
MIRT2295796	hsa-miR-4502	CLIP-seq
MIRT2295797	hsa-miR-4711-5p	CLIP-seq
MIRT2295798	hsa-miR-4762-3p	CLIP-seq
MIRT2295799	hsa-miR-4789-5p	CLIP-seq
MIRT2295800	hsa-miR-548ae	CLIP-seq
MIRT2295801	hsa-miR-548aj	CLIP-seq
MIRT2295802	hsa-miR-548am	CLIP-seq
MIRT2295803	hsa-miR-548x	CLIP-seq
MIRT2295804	hsa-miR-605	CLIP-seq
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT2593783	hsa-miR-1202	CLIP-seq
MIRT2593784	hsa-miR-1205	CLIP-seq
MIRT2593785	hsa-miR-127-5p	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT2593786	hsa-miR-147b	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT2593787	hsa-miR-203	CLIP-seq
MIRT2593788	hsa-miR-210	CLIP-seq
MIRT2593789	hsa-miR-22	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT2593790	hsa-miR-299-3p	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT2593791	hsa-miR-3144-5p	CLIP-seq
MIRT2593792	hsa-miR-3145-3p	CLIP-seq
MIRT2593793	hsa-miR-3148	CLIP-seq
MIRT2593794	hsa-miR-3191	CLIP-seq
MIRT2593795	hsa-miR-3194-5p	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT2593796	hsa-miR-326	CLIP-seq
MIRT2593797	hsa-miR-330-5p	CLIP-seq
MIRT2593798	hsa-miR-3591-3p	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT2593799	hsa-miR-3665	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT2593800	hsa-miR-382	CLIP-seq
MIRT2593801	hsa-miR-3907	CLIP-seq
MIRT2593802	hsa-miR-3972	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT2593803	hsa-miR-4251	CLIP-seq
MIRT2593804	hsa-miR-4279	CLIP-seq
MIRT2593805	hsa-miR-4313	CLIP-seq
MIRT2593806	hsa-miR-4324	CLIP-seq
MIRT2593807	hsa-miR-4452	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT2593808	hsa-miR-4491	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT2593809	hsa-miR-4635	CLIP-seq
MIRT2593810	hsa-miR-4646-5p	CLIP-seq
MIRT2593811	hsa-miR-4648	CLIP-seq
MIRT2593812	hsa-miR-4652-5p	CLIP-seq
MIRT2593813	hsa-miR-4654	CLIP-seq
MIRT2593814	hsa-miR-4657	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT2593815	hsa-miR-4667-5p	CLIP-seq
MIRT2593816	hsa-miR-4700-5p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT2593817	hsa-miR-4747-5p	CLIP-seq
MIRT2593818	hsa-miR-4769-5p	CLIP-seq
MIRT2593819	hsa-miR-499-3p	CLIP-seq
MIRT2593820	hsa-miR-499a-3p	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT2593821	hsa-miR-558	CLIP-seq
MIRT2593822	hsa-miR-561	CLIP-seq
MIRT2593823	hsa-miR-657	CLIP-seq
MIRT2593824	hsa-miR-764	CLIP-seq
MIRT2593825	hsa-miR-889	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq
MIRT1233419	hsa-miR-1179	CLIP-seq
MIRT2593783	hsa-miR-1202	CLIP-seq
MIRT2593784	hsa-miR-1205	CLIP-seq
MIRT1233421	hsa-miR-137	CLIP-seq
MIRT2593786	hsa-miR-147b	CLIP-seq
MIRT1233422	hsa-miR-153	CLIP-seq
MIRT1233423	hsa-miR-186	CLIP-seq
MIRT2593788	hsa-miR-210	CLIP-seq
MIRT2593789	hsa-miR-22	CLIP-seq
MIRT1233424	hsa-miR-25	CLIP-seq
MIRT2593790	hsa-miR-299-3p	CLIP-seq
MIRT1233425	hsa-miR-3133	CLIP-seq
MIRT2593791	hsa-miR-3144-5p	CLIP-seq
MIRT2593792	hsa-miR-3145-3p	CLIP-seq
MIRT2593794	hsa-miR-3191	CLIP-seq
MIRT2593795	hsa-miR-3194-5p	CLIP-seq
MIRT1233426	hsa-miR-32	CLIP-seq
MIRT2593796	hsa-miR-326	CLIP-seq
MIRT2593797	hsa-miR-330-5p	CLIP-seq
MIRT2593798	hsa-miR-3591-3p	CLIP-seq
MIRT1233427	hsa-miR-363	CLIP-seq
MIRT2593799	hsa-miR-3665	CLIP-seq
MIRT1233428	hsa-miR-367	CLIP-seq
MIRT2593800	hsa-miR-382	CLIP-seq
MIRT2593801	hsa-miR-3907	CLIP-seq
MIRT2593802	hsa-miR-3972	CLIP-seq
MIRT1233429	hsa-miR-425	CLIP-seq
MIRT2593803	hsa-miR-4251	CLIP-seq
MIRT2593804	hsa-miR-4279	CLIP-seq
MIRT2593805	hsa-miR-4313	CLIP-seq
MIRT2593806	hsa-miR-4324	CLIP-seq
MIRT2593807	hsa-miR-4452	CLIP-seq
MIRT1233430	hsa-miR-448	CLIP-seq
MIRT2593808	hsa-miR-4491	CLIP-seq
MIRT1233431	hsa-miR-4517	CLIP-seq
MIRT2593810	hsa-miR-4646-5p	CLIP-seq
MIRT2593811	hsa-miR-4648	CLIP-seq
MIRT2593812	hsa-miR-4652-5p	CLIP-seq
MIRT2593813	hsa-miR-4654	CLIP-seq
MIRT2593814	hsa-miR-4657	CLIP-seq
MIRT1233432	hsa-miR-4662a-3p	CLIP-seq
MIRT2593815	hsa-miR-4667-5p	CLIP-seq
MIRT2593816	hsa-miR-4700-5p	CLIP-seq
MIRT1233433	hsa-miR-4744	CLIP-seq
MIRT2593817	hsa-miR-4747-5p	CLIP-seq
MIRT2593818	hsa-miR-4769-5p	CLIP-seq
MIRT2593819	hsa-miR-499-3p	CLIP-seq
MIRT2593820	hsa-miR-499a-3p	CLIP-seq
MIRT1233434	hsa-miR-539	CLIP-seq
MIRT2593821	hsa-miR-558	CLIP-seq
MIRT2593823	hsa-miR-657	CLIP-seq
MIRT2593824	hsa-miR-764	CLIP-seq
MIRT2593825	hsa-miR-889	CLIP-seq
MIRT1233438	hsa-miR-92a	CLIP-seq
MIRT1233439	hsa-miR-92b	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	ISS
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	IBA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	IEA
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	ISS
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	TAS

MIM	HGNC	e!Ensembl
606097	8967	ENSG00000197563

Protein

UniProt ID

O95427

Protein name

GPI ethanolamine phosphate transferase 1 (EC 2.-.-.-) (GPI-ethanolamine transferase I) (GPI-ETI) (MCD4 homolog) (Phosphatidylinositol-glycan biosynthesis class N protein) (PIG-N)

Protein function

Ethanolamine phosphate transferase that catalyzes an ethanolamine phosphate (EtNP) transfer from phosphatidylethanolamine (PE) to the 2-OH position of the first alpha-1,4-linked mannose of the alpha-D-Man-(1->6)-alpha-D-Man-(1->4)-alpha-D-GlcN-(

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01663	Phosphodiest	116 → 287	Type I phosphodiesterase / nucleotide pyrophosphatase	Family
PF04987	PigN	430 → 884	Phosphatidylinositolglycan class N (PIG-N)	Family

Sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALY
ELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENP
VEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFD
NVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKE
IVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQ
FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESM
FTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKP
SHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYP
LSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLST
VLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMST
YLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLY
LDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMS
MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM

Sequence length

931

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	multiple congenital anomalies-hypotonia-seizures syndrome 1	rs750418747, rs886039217, rs776568529, rs1555685797, rs374704368, rs376355678, rs2033087760, rs1555683948, rs759453664, rs886039218, rs1458045074, rs1555694770, rs1462805697, rs886041514, rs1444518753 View all (28 more)	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
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.
Fryns Syndrome	Fryns syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	18839399
Brain Diseases	Associate	26394714
Capillary Malformation Arteriovenous Malformation	Associate	29310717
Cell Transformation Viral	Inhibit	28187452, 34561473
Chromosomal Instability	Inhibit	23446422
Colorectal Neoplasms	Associate	23446422, 35682850
Congenital Abnormalities	Associate	26364997, 26394714, 35468813
Developmental Disabilities	Associate	26394714, 35468813
Dyskinesia Drug Induced	Associate	35468813
Epilepsy	Associate	26394714, 32220244, 35468813
Epilepsy Absence	Associate	32220244
Epileptic Encephalopathy Early Infantile 3	Associate	35468813
Familial paroxysmal dystonia	Associate	35468813
Fryns syndrome	Associate	29330547
Gastroesophageal Reflux	Associate	26394714
Glycosylphosphatidylinositol deficiency	Associate	26394714, 35468813
Heart Septal Defects Ventricular	Associate	33966742
Hernias Diaphragmatic Congenital	Associate	29310717
Hirschsprung Disease	Associate	29310717
Immunoglobulin G4 Related Disease	Associate	29096607, 36363484
Infantile Epileptic Dyskinetic Encephalopathy	Associate	35468813
Intellectual Disability	Associate	23561847
Leukemia	Associate	28187452, 34561473
Leukemia Myeloid Acute	Associate	28187452
Metatarsus Varus	Associate	26394714
Muscle Hypotonia	Associate	23561847, 26394714, 29096607, 35468813
Myelodysplastic Syndromes	Associate	28187452
Seizures	Associate	23561847, 35468813
Van der Woude syndrome	Associate	25920937

PIGN (phosphatidylinositol glycan anchor biosynthesis class N)