Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gcnt2provided by MGI
Official Full Name: glucosaminyl (N-acetyl) transferase 2 (I blood group)provided by MGI
Primary source: MGI:MGI:1100870
See related: Ensembl:ENSMUSG00000021360 AllianceGenome:MGI:1100870
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: IGnT; IGnTA; IGnTB; IGnTC; 5330430K10Rik
Summary: Enables acetylglucosaminyltransferase activity. Involved in several processes, including positive regulation of epithelial to mesenchymal transition; positive regulation of intracellular signal transduction; and transforming growth factor beta receptor signaling pathway. Predicted to be located in Golgi apparatus. Is expressed in several structures, including alimentary system; extraembryonic component; nervous system; nose; and trunk mesenchyme. Human ortholog(s) of this gene implicated in cataract and cataract 13 with adult i phenotype. Orthologous to human GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group)). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in lung adult (RPKM 3.0), placenta adult (RPKM 3.0) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.3; 13 20.12 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (41013417..41114368)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (40859768..40960892)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

These data clearly suggest that GCNT2 functions in vivo together with beta3GnT2 to determine poly-N-acetyllactosamine (PLN) levels in olfactory neurons by regulating beta1,6-branches that promote PLN extension.
Title: N-linked polylactosamine glycan synthesis is regulated by co-expression of β3GnT2 and GCNT2.
molecular cloning and analysis of expression of mouse mucus-type core 2 beta1,6 N-acetylglucosaminyltransferase
Title: Mucin biosynthesis: molecular cloning and expression of mouse mucus-type core 2 beta1,6 N-acetylglucosaminyltransferase.
conserved cysteines of mouse core 2 beta1,6-N-acetylglucosaminyltransferase I form a network of disulfide bonds and include a thiol that affects enzyme activity
Title: Highly conserved cysteines of mouse core 2 beta1,6-N-acetylglucosaminyltransferase I form a network of disulfide bonds and include a thiol that affects enzyme activity.
Leukocyte core2GlcNAc transferase is required for biosynthesis of functional L-selectin ligands in inflamed venules of mouse cremaster muscle.
Title: Differential requirements for core2 glucosaminyltransferase for endothelial L-selectin ligand function in vivo.

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Variation

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Alleles

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

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13Mit61 (e-PCR), detects polymorphism
- UniSTS:116543

NoName (e-PCR)
- UniSTS:484528

NoName (e-PCR)
- UniSTS:225209

NoName (e-PCR)
- UniSTS:237000

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glycosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in maintenance of lens transparency	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell-substrate adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of heterotypic cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in post-transcriptional regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-transcriptional regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in protein glycosylation	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Names: I-branching enzyme; N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase; glucosaminyl (N-acetyl) transferase 2, I-branching enzyme; glucosaminyltransferase, I-branching enzyme; large I antigen-forming beta-1,6-N-acetylglucosaminyltransferase

NP_032131.2

EC 2.4.1.150

NP_076376.3

EC 2.4.1.150

NP_573482.1

EC 2.4.1.150

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_008105.4 → NP_032131.2 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

See identical proteins and their annotated locations for NP_032131.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform A.

Source sequence(s)

AC133496, AC159205

Consensus CDS

CCDS26468.1

UniProtKB/Swiss-Prot

P97402, Q6T5E3

UniProtKB/TrEMBL

A2IQH5, Q8BW63

Related

ENSMUSP00000070942.8, ENSMUST00000069958.15

Conserved Domains (1) summary

pfam02485
Location:95 → 357

Branch; Core-2/I-Branching enzyme
NM_023887.5 → NP_076376.3 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B

See identical proteins and their annotated locations for NP_076376.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' exon which includes 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (B) is of the same size but has a different N-terminus when compared to isoform A.

Source sequence(s)

AC133496, AC159205

Consensus CDS

CCDS36637.1

UniProtKB/TrEMBL

A2IQH4, Q6T5E4

Related

ENSMUSP00000105820.3, ENSMUST00000110191.10

Conserved Domains (1) summary

pfam02485
Location:95 → 357

Branch; Core-2/I-Branching enzyme
NM_133219.2 → NP_573482.1 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C

See identical proteins and their annotated locations for NP_573482.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' exon which includes 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (C) is of the same size but has a different N-terminus when compared to isoform A.

Source sequence(s)

AC133496

Consensus CDS

CCDS26469.1

UniProtKB/TrEMBL

Q7TPQ8, Q9D2A8

Related

ENSMUSP00000066467.7, ENSMUST00000067778.8

Conserved Domains (1) summary

pfam02485
Location:95 → 357

Branch; Core-2/I-Branching enzyme