Gene

piga

ID

ZDB-GENE-040426-1086

Name

phosphatidylinositol glycan anchor biosynthesis, class A

Symbol

piga Nomenclature History

Previous Names

im:6911675
zgc:56589 (1)

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Predicted to enable phosphatidylinositol N-acetylglucosaminyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to be located in membrane. Predicted to be part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 2 and paroxysmal nocturnal hemoglobinuria. Orthologous to human PIGA (phosphatidylinositol glycan anchor biosynthesis class A).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Thisse et al., 2004

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:6911675 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With piga Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
multiple congenital anomalies-hypotonia-seizures syndrome 2	Alliance	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868
paroxysmal nocturnal hemoglobinuria	Alliance	Paroxysmal nocturnal hemoglobinuria, somatic	300818
		Neurodevelopmental disorder with epilepsy and hemochromatosis	301072

Associated With piga Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001296	Glycosyl transferase, family 1
Domain	IPR013234	PIGA, GPI anchor biosynthesis
Family	IPR039507	Phosphatidylinositol N-acetylglucosaminyltransferase subunit PIG-A/GPI3