2. Gene
  3. PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

PIGG - phosphatidylinositol glycan anchor biosynthesis class G Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference Source
acts upstream of or within GPI anchor biosynthetic process IDA
IDA: Inferred from direct assay
15632136 GOA
Cellular Component GO Annotation Evidence Reference 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

Phosphodiest: Type I phosphodiesterase / nucleotide pyrophosphatase (68 - 285)

  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10491 PIGG Human Pre-designed siRNA Set A Pre-designed Sets / 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