Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCAHS1
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
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 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
IVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWG
AGIKYPQRVSAQQ
FDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESM
FTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKP
SHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYP
LSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSL
LLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLST
VLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMST
YLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLY
LDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGS
WLDIGTSISHYVIVMS
MTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM
Sequence length 931
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Renal dysplasia Renal Cell Dysplasia, Unilateral renal dysplasia, Renal dysplasia ClinVar
Fryns Syndrome Fryns syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
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