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GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [ Homo sapiens (human) ]

Gene ID: 2651, updated on 11-Sep-2019

Summary

Official Symbol
GCNT2provided by HGNC
Official Full Name
glucosaminyl (N-acetyl) transferase 2 (I blood group)provided by HGNC
Primary source
HGNC:HGNC:4204
See related
Ensembl:ENSG00000111846 MIM:600429
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2
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]
Expression
Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues See more
Orthologs

Genomic context

See GCNT2 in Genome Data Viewer
Location:
6p24.3-p24.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (10521283..10629368)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10521542..10629601)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928146 Neighboring gene glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) pseudogene Neighboring gene NFE2L2 motif-containing MPRA enhancer 266 Neighboring gene ribosomal protein L21 pseudogene 63 Neighboring gene GCNT2 pseudogene 1 Neighboring gene uncharacterized LOC105374924 Neighboring gene chromosome 6 open reading frame 52

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163396

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
Names
I beta-1,6-N-acetylglucosaminyltransferase
Ii blood group
beta-1,6-N-acetylglucosaminyltransferase 2
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
NP_001482.1
NP_663624.1
NP_663630.2
XP_005249054.1
XP_005249056.1
XP_006715115.1
XP_011512770.1
XP_016866221.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007469.3 RefSeqGene

    Range
    98538..142146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001491.2NP_001482.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B

    See identical proteins and their annotated locations for NP_001482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes isoform B.
    Source sequence(s)
    AL139039, AL832719, BX647576, L19659
    Consensus CDS
    CCDS4512.1
    UniProtKB/Swiss-Prot
    Q8N0V5
    Related
    ENSP00000314844.3, ENST00000316170.8
    Conserved Domains (1) summary
    pfam02485
    Location:95356
    Branch; Core-2/I-Branching enzyme
  2. NM_145649.4NP_663624.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A

    See identical proteins and their annotated locations for NP_663624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a different 5' end exon compared to variant 2. The encoded isoform (A) is longer and has a distinct N-terminus, compared to isoform B.
    Source sequence(s)
    AK090483, AL832719, DB208581
    Consensus CDS
    CCDS34338.1
    UniProtKB/Swiss-Prot
    Q8N0V5
    Related
    ENSP00000419411.1, ENST00000495262.6
    Conserved Domains (1) summary
    pfam02485
    Location:97358
    Branch; Core-2/I-Branching enzyme
  3. NM_145655.3NP_663630.2  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C

    See identical proteins and their annotated locations for NP_663630.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a different 5' end exon compared to variant 2. The encoded isoform (C) is longer and has a distinct N-terminus, compared to isoform B.
    Source sequence(s)
    AL832719, AY435147, BX503586
    Consensus CDS
    CCDS4513.1
    UniProtKB/Swiss-Prot
    Q8N0V5
    Related
    ENSP00000265012.4, ENST00000265012.4
    Conserved Domains (1) summary
    pfam02485
    Location:97358
    Branch; Core-2/I-Branching enzyme

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    10521283..10629368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248999.2XP_005249056.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X3

    See identical proteins and their annotated locations for XP_005249056.1

    Conserved Domains (1) summary
    pfam02485
    Location:20281
    Branch; Core-2/I-Branching enzyme
  2. XM_011514468.3XP_011512770.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    Conserved Domains (1) summary
    pfam02485
    Location:97316
    Branch; Core-2/I-Branching enzyme
  3. XM_006715052.3XP_006715115.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X1

    See identical proteins and their annotated locations for XP_006715115.1

    UniProtKB/Swiss-Prot
    Q8N0V5
    Conserved Domains (1) summary
    pfam02485
    Location:97358
    Branch; Core-2/I-Branching enzyme
  4. XM_017010732.2XP_016866221.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X4

    Conserved Domains (1) summary
    pfam02485
    Location:97316
    Branch; Core-2/I-Branching enzyme
  5. XM_005248997.3XP_005249054.1  N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform X2

    Conserved Domains (1) summary
    pfam02485
    Location:95302
    Branch; Core-2/I-Branching enzyme

RNA

  1. XR_002956275.1 RNA Sequence

  2. XR_926136.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654713.1 Reference GRCh38.p13 PATCHES

    Range
    32219..140252
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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