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GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [ Homo sapiens (human) ]

Gene ID: 2651, updated on 3-Apr-2024

Summary

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Official Symbol
GCNT2provided by HGNC
Official Full Name
glucosaminyl (N-acetyl) transferase 2 (I blood group)provided by HGNC
Primary source
HGNC:HGNC:4204
See related
Ensembl:ENSG00000111846 MIM:600429; AllianceGenome:HGNC:4204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2
Summary
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See GCNT2 in Genome Data Viewer
Location:
6p24.3-p24.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10521351..10629368)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10389059..10497066)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10521584..10629601)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:10466572-10467078 Neighboring gene long intergenic non-protein coding RNA 2522 Neighboring gene uncharacterized LOC101928146 Neighboring gene glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10518715-10519215 Neighboring gene NFE2L2 motif-containing MPRA enhancer 266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10519455-10520150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23969 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10555959-10556854 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:10558788-10559335 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10559462-10560216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10564953-10565514 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575275-10575920 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:10575921-10576566 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10576567-10577212 Neighboring gene Sharpr-MPRA regulatory region 5327 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10582905-10583878 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10585827-10586799 Neighboring gene ribosomal protein L21 pseudogene 63 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10589255-10589802 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:10596165-10597152 Neighboring gene GCNT2 pseudogene 1 Neighboring gene MPRA-validated peak5653 silencer Neighboring gene chromosome 6 open reading frame 52 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10694821-10695423 Neighboring gene PAK1 interacting protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target. Perez M, et al. Br J Dermatol, 2021 Aug. PMID 33660254, Free PMC Article
  2. I-branched carbohydrates as emerging effectors of malignant progression. Dimitroff CJ. Proc Natl Acad Sci U S A, 2019 Jul 9. PMID 31213534, Free PMC Article
  3. GCNT2 induces epithelial-mesenchymal transition and promotes migration and invasion in esophageal squamous cell carcinoma cells. Peng F, et al. Cell Biochem Funct, 2019 Jan. PMID 30575058
  4. Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts. Irum B, et al. PLoS One, 2016. PMID 27936067, Free PMC Article
  5. I-branching N-acetylglucosaminyltransferase regulates prostate cancer invasiveness by enhancing α5β1 integrin signaling. Mikami J, et al. Cancer Sci, 2016 Mar. PMID 26678556, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target.
    Title: Melanoma-associated glycosyltransferase GCNT2 as an emerging biomarker and therapeutic target.
  2. I-branched glycans catalyzed principally by the I-branching enzyme GCNT2 are now indicated in several malignancies.
    Title: I-branched carbohydrates as emerging effectors of malignant progression.
  3. study suggested that GCNT2 was highly expressed in patients with esophageal squamous cell carcinoma and predicted adverse outcome; overexpression of GCNT2 induces epithelial-mesenchymal transition and promotes migration and invasion in ESCC cells; therefore, GCNT2 may act as a candidate prognostic indicator of outcome and a novel target in ESCC patients
    Title: GCNT2 induces epithelial-mesenchymal transition and promotes migration and invasion in esophageal squamous cell carcinoma cells.
  4. miR-199a/b-5p regulates GCNT2 and I antigen expression in colon cancer cells undergoing EMT
    Title: Downregulation of miR-199a/b-5p is associated with GCNT2 induction upon epithelial-mesenchymal transition in colon cancer.
  5. This study reports a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.
    Title: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
  6. GCNT2 expression is closely associated with invasive potential of prostate cancer.
    Title: I-branching N-acetylglucosaminyltransferase regulates prostate cancer invasiveness by enhancing α5β1 integrin signaling.
  7. Hypomethylation of the GCNT2 variant 2 reflected lymph node metastasis of colorectal cancer in the tumor and normal tissues.
    Title: Aberrant methylation of GCNT2 is tightly related to lymph node metastasis of primary CRC.
  8. An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
    Title: An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
  9. Results show involvement of GCNT2 in EMT and TGF-beta signaling, and further glycosylation modification of E-cadherin by GCNT2, are the underlying integrative mechanisms for breast cancer metastasis.
    Title: Engagement of I-branching {beta}-1, 6-N-acetylglucosaminyltransferase 2 in breast cancer metastasis and TGF-{beta} signaling.
  10. In the family with the "ii" blood group a novel GCNT2 mutation was found in the cataract patients.
    Title: Hematologic biomarkers in childhood cataracts.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Blood group, I system
MedGen: C0020717 OMIM: 110800 GeneReviews: Not available
Compare labs
Cataract 13 with adult I phenotype
MedGen: C3805373 OMIM: 116700 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC163396

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in maintenance of lens transparency IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in multicellular organism development TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell-substrate adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of heterotypic cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in post-transcriptional regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
Names
I beta-1,6-N-acetylglucosaminyltransferase
Ii blood group
beta-1,6-N-acetylglucosaminyltransferase 2
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
NP_001361676.1
NP_001482.1
NP_663624.1
NP_663630.2
XP_005249054.1
XP_005249056.1
XP_006715115.1
XP_011512770.1
XP_047274588.1
XP_047274589.1
XP_054188133.1
XP_054188134.1
XP_054188135.1
XP_054188136.1
XP_054188137.1
XP_054188138.1
XP_054188139.1
XP_054188140.1
XP_054211120.1
XP_054211121.1
XP_054211122.1
XP_054211123.1
XP_054211124.1
XP_054211125.1
XP_054211126.1
XP_054211127.1
XP_054211128.1

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.

Genomic

  1. NG_007469.3 RefSeqGene

    Range
    34129..142146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_819

mRNA and Protein(s)

  1. NM_001374747.1 → NP_001361676.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

    Status: REVIEWED

    Source sequence(s)
    AL139039, AL358777
    Consensus CDS
    CCDS34338.1
    UniProtKB/Swiss-Prot
    Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
    UniProtKB/TrEMBL
    Q08M29
    Related
    ENSP00000368917.3, ENST00000379597.7
    Conserved Domains (1) summary
    pfam02485
    Location:97 → 357
    Branch; Core-2/I-Branching enzyme

  2. NM_001491.3 → NP_001482.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B

    See identical proteins and their annotated locations for NP_001482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes isoform B.
    Source sequence(s)
    AL139039, AL358777
    Consensus CDS
    CCDS4512.1
    UniProtKB/TrEMBL
    Q8WXK6, Q8WXK7
    Related
    ENSP00000314844.3, ENST00000316170.9
    Conserved Domains (1) summary
    pfam02485
    Location:95 → 356
    Branch; Core-2/I-Branching enzyme

  3. NM_145649.5 → NP_663624.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

    See identical proteins and their annotated locations for NP_663624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a different 5' end exon compared to variant 2. The encoded isoform (A) is longer and has a distinct N-terminus, compared to isoform B.
    Source sequence(s)
    AL139039, AL358777
    Consensus CDS
    CCDS34338.1
    UniProtKB/Swiss-Prot
    Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
    UniProtKB/TrEMBL
    Q08M29
    Related
    ENSP00000419411.2, ENST00000495262.7
    Conserved Domains (1) summary
    pfam02485
    Location:97 → 357
    Branch; Core-2/I-Branching enzyme

  4. NM_145655.4 → NP_663630.2  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C

    See identical proteins and their annotated locations for NP_663630.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a different 5' end exon compared to variant 2. The encoded isoform (C) is longer and has a distinct N-terminus, compared to isoform B.
    Source sequence(s)
    AL358777
    Consensus CDS
    CCDS4513.1
    UniProtKB/TrEMBL
    Q8NFS5, Q8NFS6, Q8NFS7, Q8NFS8
    Related
    ENSP00000265012.4, ENST00000265012.5
    Conserved Domains (1) summary
    pfam02485
    Location:97 → 358
    Branch; Core-2/I-Branching enzyme

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    10521351..10629368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715052.4 → XP_006715115.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

    See identical proteins and their annotated locations for XP_006715115.1

    UniProtKB/Swiss-Prot
    Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9
    UniProtKB/TrEMBL
    Q08M29
    Conserved Domains (1) summary
    pfam02485
    Location:97 → 357
    Branch; Core-2/I-Branching enzyme

  2. XM_047418633.1 → XP_047274589.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

  3. XM_005248999.3 → XP_005249056.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    See identical proteins and their annotated locations for XP_005249056.1

    UniProtKB/TrEMBL
    Q08M29
    Conserved Domains (1) summary
    pfam02485
    Location:20 → 281
    Branch; Core-2/I-Branching enzyme

  4. XM_047418632.1 → XP_047274588.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

  5. XM_011514468.4 → XP_011512770.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

    Conserved Domains (1) summary
    pfam02485
    Location:97 → 316
    Branch; Core-2/I-Branching enzyme

  6. XM_005248997.4 → XP_005249054.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

    Conserved Domains (1) summary
    pfam02485
    Location:95 → 302
    Branch; Core-2/I-Branching enzyme

RNA

  1. XR_926136.3 RNA Sequence

  2. XR_002956275.2 RNA Sequence

  3. XR_007059235.1 RNA Sequence

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654713.1 Reference GRCh38.p14 PATCHES

    Range
    32235..140252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332163.1 → XP_054188138.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

  2. XM_054332161.1 → XP_054188136.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

  3. XM_054332165.1 → XP_054188140.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

  4. XM_054332158.1 → XP_054188133.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

    UniProtKB/Swiss-Prot
    Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9

  5. XM_054332164.1 → XP_054188139.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

  6. XM_054332159.1 → XP_054188134.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X6

  7. XM_054332160.1 → XP_054188135.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

  8. XM_054332162.1 → XP_054188137.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X7

RNA

  1. XR_008485746.1 RNA Sequence

  2. XR_008485748.1 RNA Sequence

  3. XR_008485747.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    10389059..10497066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355151.1 → XP_054211126.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

  2. XM_054355147.1 → XP_054211122.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X8

  3. XM_054355149.1 → XP_054211124.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

  4. XM_054355153.1 → XP_054211128.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X5

  5. XM_054355145.1 → XP_054211120.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

    UniProtKB/Swiss-Prot
    Q06430, Q5T4J1, Q5W0E9, Q6T5E5, Q8N0V5, Q8NFS9

  6. XM_054355152.1 → XP_054211127.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

  7. XM_054355146.1 → XP_054211121.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X6

  8. XM_054355148.1 → XP_054211123.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

  9. XM_054355150.1 → XP_054211125.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X9

RNA

  1. XR_008487295.1 RNA Sequence

  2. XR_008487297.1 RNA Sequence

  3. XR_008487296.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N0V5.1 GenPept UniProtKB/Swiss-Prot:Q8N0V5

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