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

Also Known as B4GALT; GALGT2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 124872

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 References 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 References 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

Glycos_transf_2: Glycosyl transferase family 2 (326 - 433)

  • 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

B4GALNT2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
B4GALNT2 Q8NHY0 ARL13B Homo sapiens Q3SXY8
Y2H Array
32296183
Intra
B4GALNT2 Q8NHY0 ARL13B Homo sapiens Q3SXY8
Y2H Prey Pooling
32296183
Intra
B4GALNT2 Q8NHY0 BSCL2 Homo sapiens J3KQ12
Y2H Array
32296183
Intra
B4GALNT2 Q8NHY0 BSCL2 Homo sapiens J3KQ12
Y2H Prey Pooling
32296183
Intra
B4GALNT2 Q8NHY0 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra
B4GALNT2 Q8NHY0 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra
B4GALNT2 Q8NHY0 OTX2 Homo sapiens P32243-2
Y2H Prey Pooling
32296183
Intra
B4GALNT2 Q8NHY0 OTX2 Homo sapiens P32243-2
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others B4GALNT2 NCBI