2.4.1.313: protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase

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For detailed information about protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase, go to the full flat file.

Reaction

Synonyms

B3GALNT2, B3GalTN2, beta 1,3-N-acetylgalactosaminyltransferase2, beta-1,3-N-acetylgalactosaminyltransferase 2, beta1,3-N-acetylgalactosaminyltransferase II, beta1,3-N-acetylgalactosaminyltransferase-II, beta3GalNAc-T2, UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

ECTree

     2 Transferases

         2.4 Glycosyltransferases

             2.4.1 Hexosyltransferases

                2.4.1.313 protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase

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Results	in table
6	AA Sequence
3	Application
1	Cloned(Commentary)
35	Disease/ Diagnostics
1	Expression
8	General Information
5	Localization
1	Molecular Weight [Da]
5	Natural Substrates/ Products (Substrates)
10	Organism
3	Pathway
1	Posttranslational Modification
1	Reaction
9	Reference
13	Source Tissue
16	Substrates and Products (Substrate)
1	Subunits
15	Synonyms
1	Systematic Name

Disease

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Disease on EC 2.4.1.313 - protein O-mannose beta-1,3-N-acetylgalactosaminyltransferase

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DISEASE

TITLE OF PUBLICATION

LINK TO PUBMED

Breast Neoplasms

Involvement of B3GALNT2 overexpression in the cell growth of breast cancer.

24285400

Carcinoma, Hepatocellular

Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity.

29618368

Hydrocephalus

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

26452345

Hydrocephalus

Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2.

30705458

Intellectual Disability

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

29273094

Muscular Dystrophies

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

24084573

Muscular Dystrophies

B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss.

29791932

Muscular Dystrophies

Integrative data mining highlights candidate genes for monogenic myopathies.

25353622

Muscular Dystrophies

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of ?-Dystroglycan.

23453667

Muscular Dystrophies

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.

28303321

Muscular Dystrophies

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.

23929950

Neoplasms

Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity.

29618368

Seizures

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

29273094

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