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Entry version 150 (29 Sep 2021)
Sequence version 1 (01 Oct 2002)
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Protein

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Gene

B3GALNT2

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

Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.

3 Publications

<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 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=5.4 µM for UDP-GalNAc1 Publication
  2. KM=11 mM for GlcNAc-beta-Bn1 Publication

<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

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:ENSG00000162885-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.313, 2681

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8NCR0

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5173105, O-linked glycosylation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q8NCR0

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

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT31, Glycosyltransferase Family 31

<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:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 (EC:2.4.1.3131 Publication)
Short name:
Beta-1,3-GalNAc-T2
Alternative name(s):
Beta-1,3-N-acetylgalactosaminyltransferase II
<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
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28596, B3GALNT2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610194, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NCR0

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000162885

<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

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 – 6CytoplasmicSequence analysis6
<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>Transmembranei7 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
Topological domaini24 – 500LumenalSequence analysisAdd BLAST477

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
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_069638247G → E in MDDGA11; affects subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543072EnsemblClinVar.1
Natural variantiVAR_069639252V → G in MDDGA11. 1 PublicationCorresponds to variant dbSNP:rs367543073EnsemblClinVar.1
Natural variantiVAR_069640268V → M in MDDGA11; affects subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543074EnsemblClinVar.1
Natural variantiVAR_069641292R → P in MDDGA11; does not affect subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543076EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease variant, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
148789

MalaCards human disease database

More...
MalaCardsi
B3GALNT2
MIMi615181, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162885

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

More...
Orphaneti
88616, Autosomal recessive non-syndromic intellectual disability
588, Muscle-eye-brain disease
899, Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672567

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NCR0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
B3GALNT2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74751196

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002483621 – 500UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2Add BLAST500

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>Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NCR0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8NCR0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NCR0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NCR0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8NCR0

PeptideAtlas

More...
PeptideAtlasi
Q8NCR0

PRoteomics IDEntifications database

More...
PRIDEi
Q8NCR0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72925 [Q8NCR0-1]
72926 [Q8NCR0-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q8NCR0-2 [Q8NCR0-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q8NCR0, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NCR0

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

More...
PhosphoSitePlusi
Q8NCR0

<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

Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162885, Expressed in pancreas and 186 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NCR0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NCR0, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000162885, Tissue enhanced (pancreas)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
127169, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NCR0, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355559

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8NCR0, 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
Q8NCR0

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 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2287, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156562

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_591287_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NCR0

Database of Orthologous Groups

More...
OrthoDBi
640360at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NCR0

TreeFam database of animal gene trees

More...
TreeFami
TF314311

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002659, Glyco_trans_31

The PANTHER Classification System

More...
PANTHERi
PTHR11214, PTHR11214, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01762, Galactosyl_T, 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 (2+)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 2 <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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NCR0-1) [UniParc]FASTAAdd to basket

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
MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH
60 70 80 90 100
YDVVVGVLSA RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE
110 120 130 140 150
VPVEDREDPY SCKLLNITNP VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR
160 170 180 190 200
VLYPIVITSL GVFYDANDVG FQRNITVKLY QAEQEEALFI ARFSPPSCGV
210 220 230 240 250
QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK VTVNDGGGVL
260 270 280 290 300
RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI
310 320 330 340 350
RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN
360 370 380 390 400
LLLKTDDDCY IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL
410 420 430 440 450
EYPSPAYPAF ACGSGYVISK DIVKWLASNS GRLKTYQGED VSMGIWMAAI
460 470 480 490 500
GPKRYQDSLW LCEKTCETGM LSSPQYSPWE LTELWKLKER CGDPCRCQAR
Length:500
Mass (Da):56,704
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:iF346C95857886026
GO
Isoform 2 (identifier: Q8NCR0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-37: A → AGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGIT
     281-285: EGDAL → GKFAS
     286-500: Missing.

Show »
Length:326
Mass (Da):35,649
Checksum:iDF1129745F801D9D
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WY64A0A087WY64_HUMAN
Hexosyltransferase
B3GALNT2
92Annotation score:

Annotation score:2 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>
A0A6Q8PGQ3A0A6Q8PGQ3_HUMAN
Hexosyltransferase
B3GALNT2
502Annotation score:

Annotation score:2 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>
A0A6Q8PG34A0A6Q8PG34_HUMAN
Hexosyltransferase
B3GALNT2
422Annotation score:

Annotation score:2 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>
A0A6Q8PEZ9A0A6Q8PEZ9_HUMAN
Hexosyltransferase
B3GALNT2
426Annotation score:

Annotation score:2 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH16974 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035860203N → S in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_069638247G → E in MDDGA11; affects subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543072EnsemblClinVar.1
Natural variantiVAR_069639252V → G in MDDGA11. 1 PublicationCorresponds to variant dbSNP:rs367543073EnsemblClinVar.1
Natural variantiVAR_069640268V → M in MDDGA11; affects subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543074EnsemblClinVar.1
Natural variantiVAR_069641292R → P in MDDGA11; does not affect subcellular localization. 1 PublicationCorresponds to variant dbSNP:rs367543076EnsemblClinVar.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_02025037A → AGGVSLLLPRLECNGAVSAH PNLHLPGSRDSPASASQVAG IT in isoform 2. 1 Publication1
Alternative sequenceiVSP_020251281 – 285EGDAL → GKFAS in isoform 2. 1 Publication5
Alternative sequenceiVSP_020252286 – 500Missing in isoform 2. 1 PublicationAdd BLAST215

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AL135928 Genomic DNA Translation: CAI21727.1
AL135928 Genomic DNA Translation: CAI21728.1
BC016974 mRNA Translation: AAH16974.1 Different initiation.
BC029564 mRNA Translation: AAH29564.1
AB209046 mRNA Translation: BAD92283.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1606.1 [Q8NCR0-1]
CCDS60453.1 [Q8NCR0-2]

NCBI Reference Sequences

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RefSeqi
NP_001264084.1, NM_001277155.2 [Q8NCR0-2]
NP_689703.1, NM_152490.4 [Q8NCR0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000313984; ENSP00000315678; ENSG00000162885 [Q8NCR0-2]
ENST00000366600; ENSP00000355559; ENSG00000162885 [Q8NCR0-1]
ENST00000635244; ENSP00000489219; ENSG00000282880 [Q8NCR0-2]
ENST00000635453; ENSP00000489342; ENSG00000282880 [Q8NCR0-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
148789

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:148789

UCSC genome browser

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UCSCi
uc001hxc.4, human [Q8NCR0-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL135928 Genomic DNA Translation: CAI21727.1
AL135928 Genomic DNA Translation: CAI21728.1
BC016974 mRNA Translation: AAH16974.1 Different initiation.
BC029564 mRNA Translation: AAH29564.1
AB209046 mRNA Translation: BAD92283.1
CCDSiCCDS1606.1 [Q8NCR0-1]
CCDS60453.1 [Q8NCR0-2]
RefSeqiNP_001264084.1, NM_001277155.2 [Q8NCR0-2]
NP_689703.1, NM_152490.4 [Q8NCR0-1]

3D structure databases

SMRiQ8NCR0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127169, 22 interactors
IntActiQ8NCR0, 8 interactors
STRINGi9606.ENSP00000355559

Protein family/group databases

CAZyiGT31, Glycosyltransferase Family 31

PTM databases

GlyGeniQ8NCR0, 2 sites
iPTMnetiQ8NCR0
PhosphoSitePlusiQ8NCR0

Genetic variation databases

BioMutaiB3GALNT2
DMDMi74751196

Proteomic databases

EPDiQ8NCR0
jPOSTiQ8NCR0
MassIVEiQ8NCR0
MaxQBiQ8NCR0
PaxDbiQ8NCR0
PeptideAtlasiQ8NCR0
PRIDEiQ8NCR0
ProteomicsDBi72925 [Q8NCR0-1]
72926 [Q8NCR0-2]
TopDownProteomicsiQ8NCR0-2 [Q8NCR0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1593, 115 antibodies

The DNASU plasmid repository

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DNASUi
148789

Genome annotation databases

EnsembliENST00000313984; ENSP00000315678; ENSG00000162885 [Q8NCR0-2]
ENST00000366600; ENSP00000355559; ENSG00000162885 [Q8NCR0-1]
ENST00000635244; ENSP00000489219; ENSG00000282880 [Q8NCR0-2]
ENST00000635453; ENSP00000489342; ENSG00000282880 [Q8NCR0-1]
GeneIDi148789
KEGGihsa:148789
UCSCiuc001hxc.4, human [Q8NCR0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
148789
DisGeNETi148789

GeneCards: human genes, protein and diseases

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GeneCardsi
B3GALNT2
HGNCiHGNC:28596, B3GALNT2
HPAiENSG00000162885, Tissue enhanced (pancreas)
MalaCardsiB3GALNT2
MIMi610194, gene
615181, phenotype
neXtProtiNX_Q8NCR0
OpenTargetsiENSG00000162885
Orphaneti88616, Autosomal recessive non-syndromic intellectual disability
588, Muscle-eye-brain disease
899, Walker-Warburg syndrome
PharmGKBiPA142672567
VEuPathDBiHostDB:ENSG00000162885

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2287, Eukaryota
GeneTreeiENSGT00940000156562
HOGENOMiCLU_591287_0_0_1
InParanoidiQ8NCR0
OrthoDBi640360at2759
PhylomeDBiQ8NCR0
TreeFamiTF314311

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:ENSG00000162885-MONOMER
BRENDAi2.4.1.313, 2681
PathwayCommonsiQ8NCR0
ReactomeiR-HSA-5173105, O-linked glycosylation
SABIO-RKiQ8NCR0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
148789, 8 hits in 1019 CRISPR screens

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

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ChiTaRSi
B3GALNT2, human

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

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GenomeRNAii
148789
PharosiQ8NCR0, Tbio

Protein Ontology

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PROi
PR:Q8NCR0
RNActiQ8NCR0, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000162885, Expressed in pancreas and 186 other tissues
ExpressionAtlasiQ8NCR0, baseline and differential
GenevisibleiQ8NCR0, HS

Family and domain databases

InterProiView protein in InterPro
IPR002659, Glyco_trans_31
PANTHERiPTHR11214, PTHR11214, 1 hit
PfamiView protein in Pfam
PF01762, Galactosyl_T, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiB3GL2_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: Q8NCR0
Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7
<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: September 5, 2006
Last sequence update: October 1, 2002
Last modified: September 29, 2021
This is version 150 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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