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Entry version 125 (11 Dec 2019)
Sequence version 1 (01 Oct 2002)
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Protein

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Gene

GCNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications
Determines the expression of the blood group I antigen in erythrocytes.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03475-MONOMER

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8N0V5

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT14 Glycosyltransferase Family 14

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseCurated (EC:2.4.1.150)
Short name:
N-acetylglucosaminyltransferase
Alternative name(s):
I-branching enzyme
IGNT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GCNT2
Synonyms:GCNT5, II, NACGT1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000111846.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4204 GCNT2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600429 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N0V5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 7CytoplasmicSequence analysis7
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei8 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST16
Topological domaini24 – 400LumenalSequence analysisAdd BLAST377

Keywords - Cellular componenti

Golgi apparatus, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cataract 13, with adult i phenotype (CTRCT13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073829350G → E in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs56141211Ensembl.1
Natural variantiVAR_073830385R → H in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs55940927Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2651

MalaCards human disease database

More...
MalaCardsi
GCNT2
MIMi110800 phenotype
116700 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000111846

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98994 Total early-onset cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA169

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N0V5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GCNT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
543887

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003951191 – 402N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseAdd BLAST402

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N0V5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N0V5

PeptideAtlas

More...
PeptideAtlasi
Q8N0V5

PRoteomics IDEntifications database

More...
PRIDEi
Q8N0V5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
58445
71468 [Q8N0V5-1]
73347

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N0V5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8N0V5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform B is expressed in lens epithelium cells. Isoform C is expressed in reticulocytes.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expression of isoform B increases dramatically during development and oncogenesis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000111846 Expressed in 178 organ(s), highest expression level in endometrium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N0V5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N0V5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026776

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108921, 37 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N0V5, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368917

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N0V5 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N0V5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the glycosyltransferase 14 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0799 Eukaryota
ENOG410XQ7M LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156849

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293251

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N0V5

KEGG Orthology (KO)

More...
KOi
K00742

Identification of Orthologs from Complete Genome Data

More...
OMAi
KAPAEYK

Database of Orthologous Groups

More...
OrthoDBi
791893at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N0V5

TreeFam database of animal gene trees

More...
TreeFami
TF315534

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003406 Glyco_trans_14

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02485 Branch, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Isoforms A, B and C have different exons 1, but identical exons 2 and 3.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q8N0V5-1) [UniParc]FASTAAdd to basket
Also known as: IGnTA, IGNT1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMGSWKHCLF SASLISALIF VFVYNTELWE NKRFLRAALS NASLLAEACH
60 70 80 90 100
QIFEGKVFYP TENALKTTLD EATCYEYMVR SHYVTETLSE EEAGFPLAYT
110 120 130 140 150
VTIHKDFGTF ERLFRAIYMP QNVYCVHLDQ KATDAFKGAV KQLLSCFPNA
160 170 180 190 200
FLASKKESVV YGGISRLQAD LNCLEDLVAS EVPWKYVINT CGQDFPLKTN
210 220 230 240 250
REIVQYLKGF KGKNITPGVL PPDHAVGRTK YVHQELLNHK NSYVIKTTKL
260 270 280 290 300
KTPPPHDMVI YFGTAYVALT RDFANFVLQD QLALDLLSWS KDTYSPDEHF
310 320 330 340 350
WVTLNRIPGV PGSMPNASWT GNLRAIKWSD MEDRHGGCHG HYVHGICIYG
360 370 380 390 400
NGDLKWLVNS PSLFANKFEL NTYPLTVECL ELRHRERTLN QSETAIQPSW

YF
Length:402
Mass (Da):45,873
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFCA6AE905D78D7D5
GO
Isoform B (identifier: Q8N0V5-2) [UniParc]FASTAAdd to basket
Also known as: IGnTB, IGNT2

The sequence of this isoform differs from the canonical sequence as follows:
     1-294: MMGSWKHCLF...DLLSWSKDTY → MPLSMRYLFI...DLLQWSKDTF

Show »
Length:400
Mass (Da):45,855
Checksum:i1469628690A1F43B
GO
Isoform C (identifier: Q8N0V5-3) [UniParc]FASTAAdd to basket
Also known as: IGnTC, IGNT3

The sequence of this isoform differs from the canonical sequence as follows:
     1-308: MMGSWKHCLF...HFWVTLNRIP → MNFWRYCFFA...HFWVTLNRVS

Show »
Length:402
Mass (Da):46,531
Checksum:i7760098081881BD3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PRW1A0A1W2PRW1_HUMAN
N-acetyllactosaminide beta-1,6-N-ac...
GCNT2
313Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZBL3B7ZBL3_HUMAN
N-acetyllactosaminide beta-1,6-N-ac...
GCNT2
116Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti272D → E in AAM73866 (PubMed:12424189).Curated1
Sequence conflicti272D → E in BAC66782 (PubMed:12468428).Curated1
Sequence conflicti272D → E in CAI46081 (PubMed:11230166).Curated1
Sequence conflicti272D → E in BAG36218 (PubMed:14702039).Curated1
Sequence conflicti272D → E in EAW55259 (Ref. 9) Curated1
Sequence conflicti272D → E in AAI30525 (PubMed:15489334).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

GCNT2 is involved in determining the blood group I system (Ii) [MIMi: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 GCNT2.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073827169A → T Polymorphism wich defines the adult i phenotype. 1 PublicationCorresponds to variant dbSNP:rs137853339EnsemblClinVar.1
Natural variantiVAR_073828228R → Q Polymorphism wich defines the adult i phenotype. 1 PublicationCorresponds to variant dbSNP:rs137853340EnsemblClinVar.1
Natural variantiVAR_073829350G → E in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs56141211Ensembl.1
Natural variantiVAR_073830385R → H in CTRCT13. 1 PublicationCorresponds to variant dbSNP:rs55940927Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0583471 – 308MMGSW…LNRIP → MNFWRYCFFAFTLLSVVIFV RFYSSQLSPPKSYEKLNSSS ERYFRKTACNHALEKMPVFL WENILPSPLRSVPCKDYLTQ NHYITSPLSEEEAAFPLAYV MVIHKDFDTFERLFRAIYMP QNVYCVHVDEKAPAEYKESV RQLLSCFQNAFIASKTESVV YAGISRLQADLNCLKDLVAS EVPWKYVINTCGQDFPLKTN REIVQHLKGFKGKNITPGVL PPDHAIKRTKYVHQEHTDKG GFFVKNTNILKTSPPHQLTI YFGTAYVALTRDFVDFVLRD QRAIDLLQWSKDTYSPDEHF WVTLNRVS in isoform C. Add BLAST308
Alternative sequenceiVSP_0583481 – 294MMGSW…SKDTY → MPLSMRYLFIISVSSVIIFI VFSVFNFGGDPSFQRLNISD PLRLTQVCTSFINGKTRFLW KNKLMIHEKSSCKEYLTQSH YITAPLSKEEADFPLAYIMV IHHHFDTFARLFRAIYMPQN IYCVHVDEKATTEFKDAVEQ LLSCFPNAFLASKMEPVVYG GISRLQADLNCIRDLSAFEV SWKYVINTCGQDFPLKTNKE IVQYLKGFKGKNITPGVLPP AHAIGRTKYVHQEHLGKELS YVIRTTALKPPPPHNLTIYF GSAYVALSREFANFVLHDPR AVDLLQWSKDTF in isoform B. Add BLAST294

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Z19550 mRNA Translation: CAA79610.1
L19659 mRNA Translation: AAA81777.1
L41607, L41605, L41606 Genomic DNA Translation: AAA99832.1
AF458024 mRNA Translation: AAM73864.1
AF458025 mRNA Translation: AAM73865.1
AF458026 mRNA Translation: AAM73866.1
AB078433 mRNA Translation: BAC66782.1
AY435145 mRNA Translation: AAR95646.1
AY435146 mRNA Translation: AAR95647.1
AY435147 mRNA Translation: AAR95648.1
BX647576 mRNA Translation: CAI46081.1
AK090483 mRNA Translation: BAC03464.1
AK291767 mRNA Translation: BAF84456.1
AK313426 mRNA Translation: BAG36218.1
AK313903 mRNA Translation: BAG36626.1
AL139039 Genomic DNA No translation available.
AL358777 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55259.1
CH471087 Genomic DNA Translation: EAW55260.1
CH471087 Genomic DNA Translation: EAW55262.1
BC074802 mRNA Translation: AAH74802.1
BC074801 mRNA Translation: AAH74801.1
BC130524 mRNA Translation: AAI30525.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34338.1 [Q8N0V5-1]
CCDS4512.1 [Q8N0V5-2]
CCDS4513.1 [Q8N0V5-3]

Protein sequence database of the Protein Information Resource

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PIRi
A46297

NCBI Reference Sequences

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RefSeqi
NP_001482.1, NM_001491.2 [Q8N0V5-2]
NP_663624.1, NM_145649.4 [Q8N0V5-1]
NP_663630.2, NM_145655.3 [Q8N0V5-3]
XP_006715115.1, XM_006715052.3 [Q8N0V5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000265012; ENSP00000265012; ENSG00000111846 [Q8N0V5-3]
ENST00000316170; ENSP00000314844; ENSG00000111846 [Q8N0V5-2]
ENST00000379597; ENSP00000368917; ENSG00000111846 [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846 [Q8N0V5-1]
ENST00000642698; ENSP00000495911; ENSG00000285222 [Q8N0V5-1]
ENST00000643503; ENSP00000493918; ENSG00000285222 [Q8N0V5-2]
ENST00000644083; ENSP00000494927; ENSG00000285222 [Q8N0V5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2651

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2651

UCSC genome browser

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UCSCi
uc010joo.4 human [Q8N0V5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Functional Glycomics Gateway - GTase

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z19550 mRNA Translation: CAA79610.1
L19659 mRNA Translation: AAA81777.1
L41607, L41605, L41606 Genomic DNA Translation: AAA99832.1
AF458024 mRNA Translation: AAM73864.1
AF458025 mRNA Translation: AAM73865.1
AF458026 mRNA Translation: AAM73866.1
AB078433 mRNA Translation: BAC66782.1
AY435145 mRNA Translation: AAR95646.1
AY435146 mRNA Translation: AAR95647.1
AY435147 mRNA Translation: AAR95648.1
BX647576 mRNA Translation: CAI46081.1
AK090483 mRNA Translation: BAC03464.1
AK291767 mRNA Translation: BAF84456.1
AK313426 mRNA Translation: BAG36218.1
AK313903 mRNA Translation: BAG36626.1
AL139039 Genomic DNA No translation available.
AL358777 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55259.1
CH471087 Genomic DNA Translation: EAW55260.1
CH471087 Genomic DNA Translation: EAW55262.1
BC074802 mRNA Translation: AAH74802.1
BC074801 mRNA Translation: AAH74801.1
BC130524 mRNA Translation: AAI30525.1
CCDSiCCDS34338.1 [Q8N0V5-1]
CCDS4512.1 [Q8N0V5-2]
CCDS4513.1 [Q8N0V5-3]
PIRiA46297
RefSeqiNP_001482.1, NM_001491.2 [Q8N0V5-2]
NP_663624.1, NM_145649.4 [Q8N0V5-1]
NP_663630.2, NM_145655.3 [Q8N0V5-3]
XP_006715115.1, XM_006715052.3 [Q8N0V5-1]

3D structure databases

SMRiQ8N0V5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108921, 37 interactors
IntActiQ8N0V5, 9 interactors
STRINGi9606.ENSP00000368917

Protein family/group databases

CAZyiGT14 Glycosyltransferase Family 14

PTM databases

iPTMnetiQ8N0V5
PhosphoSitePlusiQ8N0V5

Polymorphism and mutation databases

BioMutaiGCNT2
DMDMi543887

Proteomic databases

jPOSTiQ8N0V5
MassIVEiQ8N0V5
PeptideAtlasiQ8N0V5
PRIDEiQ8N0V5
ProteomicsDBi58445
71468 [Q8N0V5-1]
73347

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2651

Genome annotation databases

EnsembliENST00000265012; ENSP00000265012; ENSG00000111846 [Q8N0V5-3]
ENST00000316170; ENSP00000314844; ENSG00000111846 [Q8N0V5-2]
ENST00000379597; ENSP00000368917; ENSG00000111846 [Q8N0V5-1]
ENST00000495262; ENSP00000419411; ENSG00000111846 [Q8N0V5-1]
ENST00000642698; ENSP00000495911; ENSG00000285222 [Q8N0V5-1]
ENST00000643503; ENSP00000493918; ENSG00000285222 [Q8N0V5-2]
ENST00000644083; ENSP00000494927; ENSG00000285222 [Q8N0V5-1]
GeneIDi2651
KEGGihsa:2651
UCSCiuc010joo.4 human [Q8N0V5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2651
DisGeNETi2651
EuPathDBiHostDB:ENSG00000111846.15

GeneCards: human genes, protein and diseases

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GeneCardsi
GCNT2
HGNCiHGNC:4204 GCNT2
HPAiHPA026776
MalaCardsiGCNT2
MIMi110800 phenotype
116700 phenotype
600429 gene
neXtProtiNX_Q8N0V5
OpenTargetsiENSG00000111846
Orphaneti98994 Total early-onset cataract
PharmGKBiPA169

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0799 Eukaryota
ENOG410XQ7M LUCA
GeneTreeiENSGT00940000156849
HOGENOMiHOG000293251
InParanoidiQ8N0V5
KOiK00742
OMAiKAPAEYK
OrthoDBi791893at2759
PhylomeDBiQ8N0V5
TreeFamiTF315534

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:HS03475-MONOMER
SignaLinkiQ8N0V5

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GCNT2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GCNT2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2651
PharosiQ8N0V5 Tbio

Protein Ontology

More...
PROi
PR:Q8N0V5
RNActiQ8N0V5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000111846 Expressed in 178 organ(s), highest expression level in endometrium
ExpressionAtlasiQ8N0V5 baseline and differential
GenevisibleiQ8N0V5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003406 Glyco_trans_14
PfamiView protein in Pfam
PF02485 Branch, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGNT2A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N0V5
Secondary accession number(s): Q06430
, Q5T4J1, Q5W0E9, Q6T5E5, Q8NFS9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 15, 2010
Last sequence update: October 1, 2002
Last modified: December 11, 2019
This is version 125 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
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