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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
  • EC 2.4.1.150 4 4 4 4 4 4
  • II 3 4 6
  • Ii Blood Group 2 3
  • CTRCT13 3 6
  • NACGT1 3 4
  • GCNT5 3 4
  • IGNT 3 4
  • Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (Ii Blood Group) 2
  • N-Acetyllactosaminide Beta-1,6-N-Acetylglucosaminyl-Transferase 3
  • 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
  • GCNT2C 3
  • NAGCT1 3
  • ULG3 3
  • CCAT 3

External Ids for GCNT2 Gene

Previous Symbols for GCNT2 Gene

  • NACGT1
  • II
  • GCNT5
  • CCAT

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 blood group with or without congenital cataract. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. GO annotations related to this gene include N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT1.

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

Genomic Location for GCNT2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCNT2 Gene

Regulatory Elements for GCNT2 Gene

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

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
    Secondary Accessions:

    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 for GCNT2 Gene

Gene Families for GCNT2 Gene

HGNC:

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
Family:
  • Belongs to the glycosyltransferase 14 family.:
    • Q8N0V5
    • Q06430
    • Q8NFS9
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

Gene Ontology (GO) - Molecular Function for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008109 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IMP 12424189
GO:0008375 acetylglucosaminyltransferase activity --
genes like me logo Genes that share ontologies with GCNT2: view
genes like me logo Genes that share phenotypes with GCNT2: view

Animal Models for GCNT2 Gene

MGI Knock Outs for GCNT2:

miRNA for GCNT2 Gene

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for GCNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005575 cellular_component ND --
GO:0005794 Golgi apparatus --
GO:0016020 membrane TAS 8449405
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GCNT2: view

Pathways 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:0006486 protein glycosylation IMP 12424189
GO:0007179 transforming growth factor beta receptor signaling pathway ISS --
GO:0007275 multicellular organismal development TAS 9134435
GO:0008284 positive regulation of cell proliferation ISS --
genes like me logo Genes that share ontologies with GCNT2: view

Compounds for GCNT2 Gene

(3) HMDB Compounds for GCNT2 Gene

Compound Synonyms Cas Number PubMed IDs
Poly-N-acetyllactosamine
  • Poly(N-acetyllactosamine)
82441-98-3
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
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
528-04-1

(8) Novoseek inferred chemical compound relationships for GCNT2 Gene

Compound -log(P) Hits PubMed IDs
n-acetyllactosamine 81.3 1
n-acetylglucosamine 70.2 2
polysaccharide 49.1 4
con a 37.5 1
chitin 29.7 2
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 (5.9) and Prostate (4.2).

Integrated Proteomics: protein expression from ProteomicsDB 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 expressions with GCNT2: view

Orthologs for GCNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GCNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GCNT2 35
  • 99.42 (n)
  • 99 (a)
GCNT2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 69 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GCNT2 36
  • 56 (a)
OneToOne
LOC488215 35
  • 78.86 (n)
  • 79.35 (a)
mouse
(Mus musculus)
Mammalia Gcnt2 35
  • 76.08 (n)
  • 77.1 (a)
Gcnt2 16
Gcnt2 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gcnt2 35
  • 75.8 (n)
  • 74.62 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 62 (a)
OneToMany
GCNT2 35
  • 63.56 (n)
  • 61.14 (a)
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

Selected 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

Q06430-GNT2B_HUMAN
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
Q8N0V5-GNT2A_HUMAN
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
Q8NFS9-GNT2C_HUMAN
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 MAF
rs140852 -- 10,573,356(-) AACAA(-/AAACAA/CAACAT)CAACA intron-variant, downstream-variant-500B
rs477199 -- 10,541,595(-) GCTAA(A/C)TTCCC intron-variant
rs481488 -- 10,548,864(-) gagaa(C/T)tgctt intron-variant
rs487689 -- 10,584,977(+) ACCCT(C/T)GTGTC intron-variant, upstream-variant-2KB
rs487757 -- 10,584,956(+) TGTCA(C/G)TCCTA intron-variant, upstream-variant-2KB

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

Relevant External Links for GCNT2 Gene

HapMap Linkage Disequilibrium report
GCNT2
Human Gene Mutation Database (HGMD)
GCNT2
Locus Specific Mutation Databases (LSDB)
GCNT2
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for GCNT2 Gene

(1) OMIM Diseases for GCNT2 Gene (600429)

(2) University of Copenhagen DISEASES for GCNT2 Gene

(4) Novoseek inferred disease relationships for GCNT2 Gene

Disease -log(P) Hits PubMed IDs
congenital cataract 62.2 1
carcinoma renal cell 3.92 1
metastasis 0 1
tumors 0 2

Relevant External Links for GCNT2

Genetic Association Database (GAD)
GCNT2
Human Genome Epidemiology (HuGE) Navigator
GCNT2
genes like me logo Genes that share disorders with GCNT2: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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 4 23
  3. 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
  4. Genomic organization of core 2 and I branching beta-1,6-N- acetylglucosaminyltransferases. Implication for evolution of the beta- 1,6-N-acetylglucosaminyltransferase gene family. (PMID: 7579796) Bierhuizen M.F.A. … Fukuda M. (Glycobiology 1995) 3 23
  5. Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice. (PMID: 9134435) Magnet A.D. … Fukuda M. (Glycobiology 1997) 3 23

Products for GCNT2 Gene

Sources for GCNT2 Gene

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