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.	51604
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylinositol glycan anchor biosynthesis class T
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PIGT
Synonyms (NCBI Gene) Gene synonyms aliases	CGI-06, MCAHS3, NDAP, PIG-T, PNH2
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.12
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 an essential component of t

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199968454	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201317502	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs527236032	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs571714796	G>A,T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs751861982	->C	Pathogenic, not-provided	Coding sequence variant, non coding transcript variant, frameshift variant
rs1277383877	G>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023683	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050113	hsa-miR-26a-5p	CLASH	23622248
MIRT047380	hsa-miR-34a-5p	CLASH	23622248
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593839	hsa-miR-125a-3p	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2593864	hsa-miR-552	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11483512, 15713669, 28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	12052837
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	IBA
GO:0016255	Process	Attachment of GPI anchor to protein	IDA	28327575, 34576938, 35165458, 35551457, 36970549, 37684232
GO:0016255	Process	Attachment of GPI anchor to protein	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	NAS
GO:0016255	Process	Attachment of GPI anchor to protein	TAS	11483512, 37684232
GO:0030182	Process	Neuron differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034235	Function	GPI anchor binding	IDA	11483512
GO:0042765	Component	GPI-anchor transamidase complex	IBA
GO:0042765	Component	GPI-anchor transamidase complex	IDA	11483512, 12582175, 34576938, 35165458, 35551457, 37684232
GO:0042765	Component	GPI-anchor transamidase complex	IEA
GO:0042765	Component	GPI-anchor transamidase complex	IPI
GO:0042765	Component	GPI-anchor transamidase complex	TAS	15713669
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0180046	Process	GPI anchored protein biosynthesis	IDA	11483512, 12582175, 28327575, 34576938, 35165458, 35551457, 36970549, 37684232

MIM	HGNC	e!Ensembl
610272	14938	ENSG00000124155

Protein

UniProt ID

Q969N2

Protein name

GPI-anchor transamidase component PIGT (Phosphatidylinositol-glycan biosynthesis class T protein)

Protein function

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:114835

PDB

7W72 , 7WLD , 8IMX , 8IMY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04113	Gpi16	21 → 572	Gpi16 subunit, GPI transamidase component	Family

Sequence

MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQR
EGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTV
TDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREV
VCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSG
YGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQ
DRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCY
GSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Attachment of GPI anchor to uPAR

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 3	rs201317502, rs771691280, rs771157170, rs1277383877, rs751861982, rs774753616, rs763009552, rs587777027, rs200790673, rs527236031, rs571714796, rs527236032, rs754517456, rs756632799, rs199968454	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.
Paroxysmal nocturnal hemoglobinuria	paroxysmal nocturnal hemoglobinuria 2, paroxysmal nocturnal hemoglobinuria 1	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Body Dysmorphic Disorders	Associate	40141433
Bone Diseases Metabolic	Associate	29100095
Breast Neoplasms	Associate	18028549, 18487995, 22654114
Cerebellar Diseases	Associate	29100095
Congenital Abnormalities	Associate	30813157, 30976099
Congenital Disorders of Glycosylation	Associate	25943031
Developmental Disabilities	Associate	28327575, 29100095, 30976099
Epilepsy	Associate	25943031
Glycogen Storage Disease XIV	Associate	25943031, 30976099
Hearing Loss	Associate	25943031
Hemoglobinuria Paroxysmal	Associate	30262533, 31430258, 31638602
Inflammation	Associate	30262533
Meningitis Aseptic	Associate	30262533
Muscle Hypotonia	Associate	29100095, 30976099, 40141433
Myeloproliferative Disorders	Associate	31430258
Neurologic Manifestations	Associate	32220244
Seizures	Associate	30813157, 40141433
Squamous Cell Carcinoma of Head and Neck	Associate	18028549
Xeroderma pigmentosum variant type	Associate	40141433

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)