B4galnt2 beta-1,4-N-acetyl-galactosaminyl transferase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: B4galnt2provided by MGI
Official Full Name: beta-1,4-N-acetyl-galactosaminyl transferase 2provided by MGI
Primary source: MGI:MGI:1342058
See related: Ensembl:ENSMUSG00000013418 AllianceGenome:MGI:1342058
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dlb1; Ggm3; Dlb-1; Galg2; Galgt2; Igf2bp1
Summary: Predicted to enable acetylgalactosaminyltransferase activity. Acts upstream of or within several processes, including UDP-N-acetylglucosamine metabolic process; protein import; and skeletal muscle fiber differentiation. Predicted to be located in Golgi membrane. Is expressed in bladder fundus; hindgut; and midgut. Orthologous to human B4GALNT2 (beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in large intestine adult (RPKM 61.1), colon adult (RPKM 27.1) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 59.02 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (95754385..95805786, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (95863559..95914960, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

B4galnt2 displays an interesting spatial allelic distribution in Western Europe, likely due to the recent action of natural selection.
Title: Evaluating the maintenance of disease-associated variation at the blood group-related gene B4galnt2 in house mice.
Overexpression of Galgt2 failed to inhibit skeletal muscle pathology in dystroglycan-deficient muscles
Title: Deletion of Galgt2 (B4Galnt2) reduces muscle growth in response to acute injury and increases muscle inflammation and pathology in dystrophin-deficient mice.
These data support a critical role for B4galnt2 in gastrointestinal infections
Title: Expression of the Blood-Group-Related Gene B4galnt2 Alters Susceptibility to Salmonella Infection.
Galgt2 is required for postsynaptic expression of the CT carbohydrate at the neuromuscular junction.
Title: Distinct contributions of Galgt1 and Galgt2 to carbohydrate expression and function at the mouse neuromuscular junction.
We describe changes that result from overexpression of Galgt2, a normally synaptic muscle glycosyltransferase that can modify alpha dystroglycan and inhibit the development of muscular dystrophy when it is overexpressed.
Title: Comparative proteomic profiling of dystroglycan-associated proteins in wild type, mdx, and Galgt2 transgenic mouse skeletal muscle.
Study describes detailed characterization of mouse gastrointestinal bacterial communities in 7 distinct locations from the duodenum to the colon and provide evidence for a significant effect of B4galnt2 expression on intestinal bacterial populations.
Title: Expression of the blood-group-related glycosyltransferase B4galnt2 influences the intestinal microbiota in mice.
Data suggest that B4GALNT2 and Sd(a) antigen are essential for embryo implantation.
Title: Localization of B4GALNT2 and its role in mouse embryo attachment.
Expression of B4galnt2 in pregnant mice is regulated by progesterone. The naturally occurring up-regulation of B4galnt2 during pregnancy contributes to normal embryo implantation.
Title: Progesterone-regulated B4galnt2 expression is a requirement for embryo implantation in mice.
Galgt2 has therapeutic effects in three distinct forms of muscular dystrophy
Title: Overexpression of Galgt2 reduces dystrophic pathology in the skeletal muscles of alpha sarcoglycan-deficient mice.
low VWF levels may represent a fitness cost that is offset by a yet unknown benefit of the B4galnt2 tissue-specific switch.
Title: Selection on cis-regulatory variation at B4galnt2 and its influence on von Willebrand factor in house mice.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1)
Not Applicable (2) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

G38029 (e-PCR)
- UniSTS:105017

G38030 (e-PCR)
- UniSTS:105018

Galgt2 (e-PCR), detects polymorphism
- UniSTS:143163

AI593864 (e-PCR)
- UniSTS:165791

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylgalactosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylgalactosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in UDP-N-acetylgalactosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP-N-acetylgalactosamine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in UDP-N-acetylgalactosamine metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in UDP-N-acetylglucosamine metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within UDP-N-acetylglucosamine metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid glycosylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-cell adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein import	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beta-1,4 N-acetylgalactosaminyltransferase 2

Names: CT-Gal NAc transferase; N-acetylgalactosaminyltransferase; UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosyl-N-acetylglucosaminylpolypeptide-beta-1, 4-N-acetylgalactosaminyltransferase; dolichos lectin binding 1

NP_032107.1

EC 2.4.1.-

XP_006532264.1

EC 2.4.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008081.3 → NP_032107.1 beta-1,4 N-acetylgalactosaminyltransferase 2

See identical proteins and their annotated locations for NP_032107.1

Status: VALIDATED

Source sequence(s)

AL593858, AL606704

Consensus CDS

CCDS25285.1

UniProtKB/Swiss-Prot

Q09199

UniProtKB/TrEMBL

A2A615, F8VBU4, F8VBU5

Related

ENSMUSP00000037239.7, ENSMUST00000038343.7

Conserved Domains (2) summary

COG0463
Location:266 → 367

WcaA; Glycosyltransferase involved in cell wall bisynthesis [Cell wall/membrane/envelope biogenesis]

pfam00535
Location:268 → 412

Glycos_transf_2; Glycosyl transferase family 2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

95754385..95805786 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532201.4 → XP_006532264.1 beta-1,4 N-acetylgalactosaminyltransferase 2 isoform X1

UniProtKB/TrEMBL

F8VBU5

Conserved Domains (1) summary

pfam00535
Location:268 → 420

Glycos_transf_2; Glycosyl transferase family 2