Version 5.4
Homo sapiens Gene: GCNT2
Summary
InnateDB Gene IDBG-60908.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GCNT2
Gene Name glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Synonyms bA360O19.2; bA421M1.1; CCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3
Species Homo sapiens
Ensembl Gene ENSG00000111846
Encoded Proteins
IDBP-60910
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
IDBP-60912
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
IDBP-60914
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
IDBP-292758
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
IDBP-474805
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:10492223-10629368
Strand Forward strand
Band p24.3
Transcripts
ENST00000379597 ENSP00000368917
ENST00000316170 ENSP00000314844
ENST00000265012 ENSP00000265012
ENST00000397423
ENST00000410107 ENSP00000386321
ENST00000489225
ENST00000488742
ENST00000498320
ENST00000474983
ENST00000495262 ENSP00000419411
ENST00000475577
ENST00000489819
ENST00000474518
ENST00000483204
ENST00000485764
ENST00000461400
ENST00000459872
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008109 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity
GO:0008375 acetylglucosaminyltransferase activity
Biological Process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007275 multicellular organismal development
GO:0008284 positive regulation of cell proliferation
GO:0010608 posttranscriptional regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010812 negative regulation of cell-substrate adhesion
GO:0030335 positive regulation of cell migration
GO:0034116 positive regulation of heterotypic cell-cell adhesion
GO:0036438 maintenance of lens transparency
GO:0051897 positive regulation of protein kinase B signaling
GO:0070374 positive regulation of ERK1 and ERK2 cascade
Cellular Component
GO:0000139 Golgi membrane
GO:0005575 cellular_component
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000021360
View Gene Order
Pathways
NETPATH
REACTOME
KEGG
hsa00601
Glycosphingolipid biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.519884
RefSeq NM_001491 NM_145649 NM_145655 XM_006715052 XM_006715055
HUGO
OMIM
CCDS CCDS34338 CCDS4512 CCDS4513
HPRD 02695
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca