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PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

Also Known as EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54872

About PIGG

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:499,210-540,200 (from NCBI)

This gene has 26 transcripts (splice variants), 208 orthologues and is associated with 5 phenotypes. Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

PIGG Products (14)

mRNA	Protein	Name
NM_001127178.3	NP_001120650.1	GPI ethanolamine phosphate transferase 2 isoform 1
NM_001289051.2	NP_001275980.1	GPI ethanolamine phosphate transferase 2 isoform 3
NM_001289052.2	NP_001275981.1	GPI ethanolamine phosphate transferase 2 isoform 4
NM_001289053.2	NP_001275982.1	GPI ethanolamine phosphate transferase 2 isoform 5
NM_001289055.2	NP_001275984.1	GPI ethanolamine phosphate transferase 2 isoform 6
NM_001289057.2	NP_001275986.1	GPI ethanolamine phosphate transferase 2 isoform 7
NM_001345986.2	NP_001332915.1	GPI ethanolamine phosphate transferase 2 isoform 3
NM_001345987.2	NP_001332916.1	GPI ethanolamine phosphate transferase 2 isoform 8
NM_001345988.2	NP_001332917.1	GPI ethanolamine phosphate transferase 2 isoform 9
NM_001345989.2	NP_001332918.1	GPI ethanolamine phosphate transferase 2 isoform 10
NM_001345990.2	NP_001332919.1	GPI ethanolamine phosphate transferase 2 isoform 11 precursor
NM_001345991.2	NP_001332920.1	GPI ethanolamine phosphate transferase 2 isoform 11 precursor
NM_001345994.2	NP_001332923.1	GPI ethanolamine phosphate transferase 2 isoform 12
NM_017733.5	NP_060203.3	GPI ethanolamine phosphate transferase 2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables CP2 mannose-ethanolamine phosphotransferase activity	IDA IDA: Inferred from direct assay	15632136	GOA
enables transferase activity	IMP IMP: Inferred from mutant phenotype	34113002	GOA

Biological Process GO Annotation	Evidence	Références	Source
acts upstream of or within GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	15632136	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15632136	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGG Protein Structure

Phosphodiest

0
200
400
600
800
983 a.a.

Protein Preferred Names	Protein Names
GPI ethanolamine phosphate transferase 2	EMM blood group antigen

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Glycosylphosphatidylinositol Biosynthesis Defect 13 Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures Gpibd13 NEDHCAS Glycosylphosphatidylinositol Biosynthesis Defect 22 Gpibd22 NEDHSCA Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly Mrt53, Formerly Mental Retardation, Autosomal Recessive 53, Formerly Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigg Deficiency Pigg-Cdg Intellectual Developmental Disorder, Autosomal Recessive 53 MRT53
Blood Group, Emm System	EMM
Hyperphosphatasia With Mental Retardation Syndrome 1	Mabry Syndrome Hyperphosphatasia With Intellectual Disability Syndrome 1 HPMRS1 Glycosylphosphatidylinositol Biosynthesis Defect 2 Gpibd2 Hyperphosphatasia With Mental Retardation Syndrome Hyperphosphatasia With Seizures And Neurologic Deficit Hyperphosphatasia, With Mental Retardation Syndrome, Type 1 Hyperphosphatasia With Mental Retardation
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Anterior Segment Dysgenesis 4	Iridogoniodysgenesis Syndrome Iridogoniodysgenesis, Type 2 Irid2 Iridogoniodysgenesis Type 2 ASGD4 Igds Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant Ihga Irid 1 Irid 2 Iridogoniodysgenesis Type 1 Igds2 Iridogoniodysgenesis Syndrome 2 Iridogoniodysgenesis, Type 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	MCAHS1 Glycosylphosphatidylinositol Biosynthesis Defect 3 Gpibd3 Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Hypotonia
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome	Chime Syndrome Zunich Neuroectodermal Syndrome Zunich-Kaye Syndrome CHIME Glycosylphosphatidylinositol Biosynthesis Defect 5 Gpibd5 Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigl Deficiency Neuroectodermal Dysplasia, Chime Type Neuroectodermal Syndrome, Zunich Type Pigl-Cdg Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10491	PIGG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PIGG	VGNC	VGNC:54468
Canis familiaris	PIGG	VGNC	VGNC:44533
Mus musculus	PIGG	MGD	MGI:3576484
Macaca mulatta	PIGG	VGNC	VGNC:75865
Felis catus	PIGG	VGNC	VGNC:64164
Rattus norvegicus	PIGG	RGD	RGD:1560335
Others	PIGG	NCBI