LMPD Database

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LMP000661

Record overview

LMPD IDLMP000661
Gene ID2651
SpeciesHomo sapiens (Human)
Gene Nameglucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Gene SymbolGCNT2
SynonymsCCAT; CTRCT13; GCNT2C; GCNT5; IGNT; II; NACGT1; NAGCT1; ULG3; bA360O19.2; bA421M1.1
Alternate namesN-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase; Ii blood group; I beta-1,6-N-acetylglucosaminyltransferase; beta-1,6-N-acetylglucosaminyltransferase 2
Chromosome6
Map Location6p24.2
EC Number2.4.1.150
SummaryThis 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]
OrthologsView orthologs and multiple alignments for GCNT2

Proteins

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A
Refseq ID:NP_663624
Protein GI:21717810
UniProt ID:Q8N0V5
mRNA ID:NM_145649
Length:402
RefSeq Status:REVIEWED
MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLDEATCYEYMVRSHYVTETLSEEEAGFPLAYT
VTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAVKQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTN
REIVQYLKGFKGKNITPGVLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQDQLALDLLSWSKDTYSPDEHF
WVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSW
YF
 
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B
Refseq ID:NP_001482
Protein GI:4503963
UniProt ID:Q06430
mRNA ID:NM_001491
Length:400
RefSeq Status:REVIEWED
MPLSMRYLFIISVSSVIIFIVFSVFNFGGDPSFQRLNISDPLRLTQVCTSFINGKTRFLWKNKLMIHEKSSCKEYLTQSHYITAPLSKEEADFPLAYIMV
IHHHFDTFARLFRAIYMPQNIYCVHVDEKATTEFKDAVEQLLSCFPNAFLASKMEPVVYGGISRLQADLNCIRDLSAFEVSWKYVINTCGQDFPLKTNKE
IVQYLKGFKGKNITPGVLPPAHAIGRTKYVHQEHLGKELSYVIRTTALKPPPPHNLTIYFGSAYVALSREFANFVLHDPRAVDLLQWSKDTFSPDEHFWV
TLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF
 
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C
Refseq ID:NP_663630
Protein GI:85790495
UniProt ID:Q8NFS9
mRNA ID:NM_145655
Length:402
RefSeq Status:REVIEWED
MNFWRYCFFAFTLLSVVIFVRFYSSQLSPPKSYEKLNSSSERYFRKTACNHALEKMPVFLWENILPSPLRSVPCKDYLTQNHYITSPLSEEEAAFPLAYV
MVIHKDFDTFERLFRAIYMPQNVYCVHVDEKAPAEYKESVRQLLSCFQNAFIASKTESVVYAGISRLQADLNCLKDLVASEVPWKYVINTCGQDFPLKTN
REIVQHLKGFKGKNITPGVLPPDHAIKRTKYVHQEHTDKGGFFVKNTNILKTSPPHQLTIYFGTAYVALTRDFVDFVLRDQRAIDLLQWSKDTYSPDEHF
WVTLNRVSGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYGNGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSW
YF