PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

Homo sapiens

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

Gene ID: 54872 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10491	PIGG Human Pre-designed siRNA Set A		/	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