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Aliases for GCNT2 Gene

Aliases for GCNT2 Gene

  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group) 2 3 5
  • EC 2.4.1.150 4 4 4 4 4 4
  • Ii Blood Group 2 3
  • NACGT1 3 4
  • GCNT5 3 4
  • IGNT 3 4
  • II 3 4
  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (Ii Blood Group) 2
  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme 2
  • I Beta-1,6-N-Acetylglucosaminyltransferase 3
  • Beta-1,6-N-Acetylglucosaminyltransferase 2 3
  • Glucosaminyl (N-Acetyl) Transferase 5 2
  • N-Acetylglucosaminyltransferase 4
  • Unassigned Linkage Group 3 2
  • Cataract, Congenital 2
  • I-Branching Enzyme 4
  • BA360O19.2 3
  • BA421M1.1 3
  • CTRCT13 3
  • GCNT2C 3
  • NAGCT1 3
  • ULG3 3
  • CCAT 3

External Ids for GCNT2 Gene

Previous HGNC Symbols for GCNT2 Gene

  • NACGT1
  • II
  • GCNT5
  • CCAT

Previous GeneCards Identifiers for GCNT2 Gene

  • GC06P010613
  • GC06M010613
  • GC06P010636
  • GC06P010600
  • GC06P010397

Summaries for GCNT2 Gene

Entrez Gene Summary for GCNT2 Gene

  • 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]

GeneCards Summary for GCNT2 Gene

GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group)) is a Protein Coding gene. Diseases associated with GCNT2 include Cataract 13 With Adult I Phenotype and Adult I Phenotype Without Cataract. Among its related pathways are terminal O-glycans residues modification and Glycosphingolipid biosynthesis - lacto and neolacto series. GO annotations related to this gene include acetylglucosaminyltransferase activity and N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is XYLT2.

UniProtKB/Swiss-Prot for GCNT2 Gene

  • Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C.

Gene Wiki entry for GCNT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCNT2 Gene

Genomics for GCNT2 Gene

Regulatory Elements for GCNT2 Gene

Enhancers for GCNT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCNT2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the GCNT2 gene promoter:

Genomic Location for GCNT2 Gene

Chromosome:
6
Start:
10,492,223 bp from pter
End:
10,629,368 bp from pter
Size:
137,146 bases
Orientation:
Plus strand

Genomic View for GCNT2 Gene

Genes around GCNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT2 Gene

Proteins for GCNT2 Gene

  • Protein details for GCNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06430-GNT2B_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform B
    Protein Accession:
    Q06430
    Secondary Accessions:
    • Q5W0E9

    Protein attributes for GCNT2 Gene

    Size:
    400 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GCNT2 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for GCNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N0V5-GNT2A_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform A
    Protein Accession:
    Q8N0V5

    Protein attributes for GCNT2 Gene

    Size:
    402 amino acids
    Molecular mass:
    45873 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GCNT2 Gene

    UniProtKB/Swiss-Prot:
  • Protein details for GCNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFS9-GNT2C_HUMAN
    Recommended name:
    N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C
    Protein Accession:
    Q8NFS9
    Secondary Accessions:
    • Q5T4J1
    • Q6T5E5

    Protein attributes for GCNT2 Gene

    Size:
    402 amino acids
    Molecular mass:
    46531 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GCNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCNT2 Gene

Proteomics data for GCNT2 Gene at MOPED

Post-translational modifications for GCNT2 Gene

Other Protein References for GCNT2 Gene

No data available for DME Specific Peptides for GCNT2 Gene

Domains & Families for GCNT2 Gene

Protein Domains for GCNT2 Gene

Suggested Antigen Peptide Sequences for GCNT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N0V5

UniProtKB/Swiss-Prot:

GNT2C_HUMAN :
  • Belongs to the glycosyltransferase 14 family.
Family:
  • Belongs to the glycosyltransferase 14 family.
genes like me logo Genes that share domains with GCNT2: view

Function for GCNT2 Gene

Molecular function for GCNT2 Gene

GENATLAS Biochemistry:
beta-1,6-N-acetyl-glucosaminyl transferase
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-1,6-beta-D-galactosyl-1,4-N-acetyl-D-glucosaminyl-R.
UniProtKB/Swiss-Prot Function:
Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells. The expression of the blood group I antigen in erythrocytes is determined by isoform C.

Enzyme Numbers (IUBMB) for GCNT2 Gene

genes like me logo Genes that share phenotypes with GCNT2: view

Human Phenotype Ontology for GCNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GCNT2 Gene

MGI Knock Outs for GCNT2:

Animal Model Products

miRNA for GCNT2 Gene

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for GCNT2 Gene

Localization for GCNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCNT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCNT2 Gene COMPARTMENTS Subcellular localization image for GCNT2 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 2
extracellular 1
nucleus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for GCNT2 Gene

Pathways & Interactions for GCNT2 Gene

genes like me logo Genes that share pathways with GCNT2: view

Pathways by source for GCNT2 Gene

UniProtKB/Swiss-Prot Q8N0V5-GNT2A_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GCNT2 Gene

Gene Ontology (GO) - Biological Process for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS 8449405
GO:0007275 multicellular organism development TAS 9134435
GO:0010608 posttranscriptional regulation of gene expression ISS --
GO:0010812 negative regulation of cell-substrate adhesion ISS --
GO:0030335 positive regulation of cell migration ISS --
genes like me logo Genes that share ontologies with GCNT2: view

No data available for SIGNOR curated interactions for GCNT2 Gene

Drugs & Compounds for GCNT2 Gene

(2) Drugs for GCNT2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Diphosphate Experimental Pharma 0

(9) Additional Compounds for GCNT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Poly-N-acetyllactosamine
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-Glucose
  • 2-(Acetylamino)-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose homopolymer
  • N-Acetyl-4-O-beta-D-galactopyranosyl-D-glucosamine
  • N-Acetyl-lactosamine
  • O-beta-D-Galactopyranosyl-(14)-2-deoxy-2-acetamido-D-glucose
82441-98-3
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GCNT2: view

Transcripts for GCNT2 Gene

Unigene Clusters for GCNT2 Gene

Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCNT2 Gene

No ASD Table

Relevant External Links for GCNT2 Gene

GeneLoc Exon Structure for
GCNT2
ECgene alternative splicing isoforms for
GCNT2

Expression for GCNT2 Gene

mRNA expression in normal human tissues for GCNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GCNT2 Gene

This gene is overexpressed in Heart - Left Ventricle (x5.9) and Prostate (x4.2).

Protein differential expression in normal tissues from HIPED for GCNT2 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GCNT2 Gene



SOURCE GeneReport for Unigene cluster for GCNT2 Gene Hs.519884

mRNA Expression by UniProt/SwissProt for GCNT2 Gene

Q06430-GNT2B_HUMAN
Tissue specificity: Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes.
genes like me logo Genes that share expression patterns with GCNT2: view

Protein tissue co-expression partners for GCNT2 Gene

Primer Products

Orthologs for GCNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCNT2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia LOC488215 35
  • 78.86 (n)
  • 79.35 (a)
GCNT2 36
  • 56 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcnt2 35
  • 76.08 (n)
  • 77.1 (a)
Gcnt2 16
Gcnt2 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCNT2 35
  • 99.42 (n)
  • 99 (a)
GCNT2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcnt2 35
  • 75.8 (n)
  • 74.62 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves GCNT2 35
  • 63.56 (n)
  • 61.14 (a)
-- 36
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 60 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491539 35
  • 63.6 (n)
  • 61.94 (a)
worm
(Caenorhabditis elegans)
Secernentea F26D2.3 36
  • 17 (a)
ManyToMany
F30A10.4 36
  • 15 (a)
ManyToMany
F35H8.2 36
  • 17 (a)
ManyToMany
gly-1 36
  • 19 (a)
ManyToMany
gly-15 36
  • 21 (a)
ManyToMany
gly-16 36
  • 24 (a)
ManyToMany
gly-17 36
  • 25 (a)
ManyToMany
gly-18 36
  • 24 (a)
ManyToMany
gly-19 36
  • 23 (a)
ManyToMany
H41C03.3 36
  • 17 (a)
ManyToMany
R07B7.6 36
  • 16 (a)
ManyToMany
R07C3.3 36
  • 16 (a)
ManyToMany
T09E11.6 36
  • 16 (a)
ManyToMany
T09E11.9 36
  • 16 (a)
ManyToMany
T14B4.9 36
  • 17 (a)
ManyToMany
T27F6.1 36
  • 19 (a)
ManyToMany
T28F3.9 36
  • 15 (a)
ManyToMany
Y51H4A.25 36
  • 15 (a)
ManyToMany
ZK1225.2 36
  • 15 (a)
ManyToMany
Species with no ortholog for GCNT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for GCNT2 Gene

ENSEMBL:
Gene Tree for GCNT2 (if available)
TreeFam:
Gene Tree for GCNT2 (if available)

Paralogs for GCNT2 Gene

Paralogs for GCNT2 Gene

(8) SIMAP similar genes for GCNT2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for GCNT2 Gene

genes like me logo Genes that share paralogs with GCNT2: view

Variants for GCNT2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GCNT2 Gene

GNT2B_HUMAN-Q06430
GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.
GNT2A_HUMAN-Q8N0V5
GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.
GNT2C_HUMAN-Q8NFS9
GCNT2 is involved in determining the blood group I system (Ii) [MIM:110800]. The i (fetal) and I (adult) antigens are determined by linear and branched poly-N-acetyllactosaminoglycans, respectively. A replacement during development of i by I is dependent on the appearance of a beta-1,6-N-acetylglucosaminyltransferase, the I-branching enzyme. The expression of the blood group I antigen in erythrocytes is determined by isoform C of GCNT2.

Sequence variations from dbSNP and Humsavar for GCNT2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs17637756 - 10,556,677(+) AGCCC(C/G)TTTAT intron-variant, reference, missense
VAR_073827 -
VAR_073828 -
VAR_073829 Cataract 13, with adult i phenotype (CTRCT13)
VAR_073830 Cataract 13, with adult i phenotype (CTRCT13)

Structural Variations from Database of Genomic Variants (DGV) for GCNT2 Gene

Variant ID Type Subtype PubMed ID
esv2667708 CNV Deletion 23128226
dgv1902e1 CNV Complex 17122850
nsv462631 CNV Gain 19166990
esv34437 CNV Loss 17911159
dgv1903e1 CNV Complex 17122850
nsv10801 CNV Loss 18304495
dgv738n27 CNV Loss 19166990
nsv818399 CNV Loss 17921354
dgv373n21 CNV Loss 19592680
nsv437958 CNV Loss 16468122
esv33391 CNV Gain+Loss 17666407
nsv883448 CNV Loss 21882294
nsv436990 CNV Loss 16327808
nsv883449 CNV Loss 21882294
nsv5195 CNV Insertion 18451855
esv2657910 CNV Deletion 23128226
esv2670630 CNV Deletion 23128226
nsv470800 CNV Gain 18288195
nsv349183 CNV Insertion 16902084
esv2731582 CNV Deletion 23290073
esv1486633 CNV Insertion 17803354
esv2731585 CNV Deletion 23290073

Variation tolerance for GCNT2 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCNT2 Gene

Human Gene Mutation Database (HGMD)
GCNT2
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for GCNT2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for GCNT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 13 with adult i phenotype
  • ctrct13
adult i phenotype without cataract
  • i blood group system
muscular dystrophy-dystroglycanopathy , type a, 13
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a13
total early-onset cataract
adult i blood group with or without congenital cataract
- elite association - COSMIC cancer census association via MalaCards
Search GCNT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNT2C_HUMAN
  • Cataract 13, with adult i phenotype (CTRCT13) [MIM:116700]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. {ECO:0000269 PubMed:11739194}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GCNT2

Genetic Association Database (GAD)
GCNT2
Human Genome Epidemiology (HuGE) Navigator
GCNT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCNT2
genes like me logo Genes that share disorders with GCNT2: view

No data available for Genatlas for GCNT2 Gene

Publications for GCNT2 Gene

  1. The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. (PMID: 12424189) Yu L.C. … Lin M. (Blood 2003) 3 4 23 48 67
  2. Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. (PMID: 8449405) Bierhuizen M.F.A. … Fukuda M. (Genes Dev. 1993) 2 3 23
  3. A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. (PMID: 15161861) Pras E. … Hejtmancik J.F. (Invest. Ophthalmol. Vis. Sci. 2004) 3 23
  4. A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. (PMID: 12468428) Inaba N. … Narimatsu H. (Blood 2003) 3 23
  5. Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. (PMID: 11739194) Yu L.C. … Lin M. (Blood 2001) 3 23

Products for GCNT2 Gene

Sources for GCNT2 Gene

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