glucosaminyl (N-acetyl) transferase 2 (I blood group)

Summary
Gene Symbol
  • GCNT2
Aliases
  • IGNT
  • Ii blood group
  • NAGCT1
  • ULG3
  • bA360O19.2
  • bA421M1.1
  • unassigned linkage group 3
Organism
Homo sapiens (human)
External Links
NCBI Gene
2651
GGDB ID
HGNC
4204
mRNA
map
  • 6p24
Protein
OMIM
KEGG Gene ID
hsa:2651
PubChem
2651
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cataract
  • Disease variant
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8N0V5
  • I-branching enzyme
  • IGNT
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg111
Gene Symbol
  • GCNT2
Reactions
Displaying all 4 entries
Donor Acceptor Product Reference
UDP-GlcNAc
G83513YI
G99198JG
UDP-GlcNAc
G60645OK
G20942TC
UDP-GlcNAc
G50122MB
G57923AB
UDP-GlcNAc
G64376NF
G57923AB
Displaying all 5 entries
Donor Acceptor Product Reference
UDP-GlcNAc
G60645OK
G20942TC
UDP-GlcNAc
G50122MB
G57923AB
UDP-GlcNAc
G64376NF
G57923AB
UDP-GlcNAc
G00058MO
G80198LX
UDP-GlcNAc
G83513YI
G99198JG
Orthologous Gene
KEGG BRITE Database
Orthology
K00742
Name
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase [EC:2.4.1.150]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R06189
Disease
Disease Ontology
Displaying entries 1 - 10 of 68 in total
DO ID Disease Name Source
DOID:0080144 childhood acute lymphocytic leukemia
DOID:0080199 colorectal carcinoma
DOID:0110227 cataract 32 multiple types
DOID:0110228 cataract 8 multiple types
DOID:0110229 cataract 6 multiple types
DOID:0110230 cataract 34 multiple types
DOID:0110231 cataract 1 multiple types
DOID:0110232 cataract 29
DOID:0110233 cataract 27
DOID:0110234 cataract 4 multiple types
The Human Phenotype Ontology
Displaying all 2 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000519 Developmental cataract
Displaying 1 entry
Disease ID Disease Name
OMIM:116700
  • cataract 13 with adult I phenotype
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000661
Gene Name
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024