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

Gene ID: 14538, updated on 28-Apr-2024

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
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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_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_34281 Neighboring gene oogenesin 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_34283 Neighboring gene STARR-seq mESC enhancer starr_34284 Neighboring gene predicted gene, 35160 Neighboring gene STARR-seq mESC enhancer starr_34285 Neighboring gene microRNA 5124a Neighboring gene predicted gene, 31683 Neighboring gene STARR-seq mESC enhancer starr_34294 Neighboring gene RIKEN cDNA A730081D07 gene Neighboring gene STARR-positive B cell enhancer ABC_E11542 Neighboring gene PAK1 interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E9874 Neighboring gene transmembrane protein 14C

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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
NP_076376.3
NP_573482.1

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)

  1. NM_008105.4NP_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:95357
    Branch; Core-2/I-Branching enzyme
  2. NM_023887.5NP_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:95357
    Branch; Core-2/I-Branching enzyme
  3. NM_133219.2NP_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:95357
    Branch; Core-2/I-Branching enzyme

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

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    41013417..41114368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003950428.2 RNA Sequence

  2. XR_003950430.2 RNA Sequence

  3. XR_003950429.2 RNA Sequence