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Entry version 145 (07 Oct 2020)
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%5Fsection">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%5Fsection">'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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000162885.12

    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

    <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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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 mutations 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 mutation, 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

    Polymorphism and mutation 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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

    More...
    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%5Fsection">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

    KEGG Orthology (KO)

    More...
    KOi
    K09654

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    CEKTCES

    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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 1 potential isoform that is 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 is 1 potential isoform 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>

    <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

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    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

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

    NCBI Reference Sequences

    More...
    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

    More...
    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

    More...
    GeneIDi
    148789

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:148789

    UCSC genome browser

    More...
    UCSCi
    uc001hxc.4, human [Q8NCR0-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    <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

    Polymorphism and mutation 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

    More...
    Antibodypediai
    1593, 112 antibodies

    The DNASU plasmid repository

    More...
    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

    More...
    CTDi
    148789
    DisGeNETi148789
    EuPathDBiHostDB:ENSG00000162885.12

    GeneCards: human genes, protein and diseases

    More...
    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

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2287, Eukaryota
    GeneTreeiENSGT00940000156562
    HOGENOMiCLU_591287_0_0_1
    InParanoidiQ8NCR0
    KOiK09654
    OMAiCEKTCES
    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

    More...
    BioGRID-ORCSi
    148789, 6 hits in 875 CRISPR screens

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

    More...
    ChiTaRSi
    B3GALNT2, human

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

    More...
    GenomeRNAii
    148789
    PharosiQ8NCR0, Tbio

    Protein Ontology

    More...
    PROi
    PR:Q8NCR0
    RNActiQ8NCR0, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    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

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    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 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%5Fand%5Fisoforms">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: October 7, 2020
    This is version 145 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 polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. SIMILARITY comments
      Index of protein domains and families
    5. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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