B4GALNT2 - beta-1,4-N-acetyl-galactosaminyltransferase 2 Gene

Homo sapiens

Also known as B4GALT; GALGT2

Gene ID: 124872 | Gene type: protein coding

About B4GALNT2

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:49,120,344-49,176,840 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 1 phenotype. Biased expression in colon (RPKM 11.5), kidney (RPKM 5.5) and 4 other tissues.

Summary

B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]

B4GALNT2 Products(3)

mRNA	Protein	Name
NM_001159387.2	NP_001152859.1	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b
NM_001159388.2	NP_001152860.1	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform c
NM_153446.3	NP_703147.2	beta-1,4 N-acetylgalactosaminyltransferase 2 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables acetylgalactosaminyltransferase activity	IDA IDA: Inferred from direct assay	12678917	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in UDP-N-acetylgalactosamine metabolic process	IDA IDA: Inferred from direct assay	12678917	GOA
involved in negative regulation of cell-cell adhesion	IDA IDA: Inferred from direct assay	16024623	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

B4GALNT2 Protein Structure

Glycos_transf_2

0
100
200
300
400
500
566 a.a.

Protein Preferred Names

Protein Names

beta-1,4 N-acetylgalactosaminyltransferase 2

UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase

Related Diseases

Diseases

Alias

Blood Group, Sid System

Sd Polyagglutination Syndrome	SID
Sd Blood Group Antigen	SDPS

Failure Of Tooth Eruption, Primary

Primary Failure Of Tooth Eruption	PFE
Primary Retention Of Teeth	Unerupted Second Primary Molar
Dental Noneruption	Familial Posterior Openbite Malocclusion
Primary Failure Of Tooth Eruption, Nonsyndromic	Posterior Openbite Malocclusion, Familial
Nonsyndromic Primary Failure Of Eruption	Dental Non-Eruption
Non-Syndromic Primary Failure Of Eruption	Tooth Eruption, Failure, Primary

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy	Dmda2
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2	Lgmd2d
Muscular Dystrophy, Limb-Girdle, Type 2d	Primary Adhalinopathy

Scarlet Fever

Scarlatina

Scarlatina Nos

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

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-RS01316	B4GALNT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	B4GALNT2	MGD	MGI:1342058
Macaca mulatta	B4GALNT2	VGNC	VGNC:70120
Rattus norvegicus	B4GALNT2	RGD	RGD:1592405
Felis catus	B4GALNT2	VGNC	VGNC:60063
Bos taurus	B4GALNT2	VGNC	VGNC:26386
Canis familiaris	B4GALNT2	VGNC	VGNC:38346

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