Gene

pomgnt2

ID

ZDB-GENE-050522-242

Name

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Symbol

pomgnt2 Nomenclature History

Previous Names

gtdc2
im:7153239
zgc:112079

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to have acetylglucosaminyltransferase activity. Involved in brain development; muscle fiber development; and retina development in camera-type eye. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A8. Is expressed in basal plate midbrain region; heart; nervous system; and somite. Orthologous to human POMGNT2 (protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7153239 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 2 figures from Manzini et al., 2012
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pomgnt2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital muscular dystrophy-dystroglycanopathy type A8	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8	614830
muscular dystrophy-dystroglycanopathy type C8	Alliance	Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8	618135

Associated With pomgnt2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR003961	Fibronectin type III
Family	IPR007657	Glycosyltransferase 61
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily