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

    Gene ID: 14538, updated on 9-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 3.0), placenta adult (RPKM 3.0) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Gcnt2 in Genome Data Viewer
    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)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (1)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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 IEA
    Inferred from Electronic Annotation
    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 Golgi 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)

    NEW Try the new Transcript table

    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