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Protein

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

Gene

B3GALNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Catalytic activityi

UDP-N-acetyl-alpha-D-galactosamine + 3-O-(N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein] = UDP + 3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein].1 Publication

Kineticsi

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

    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.

    GO - Molecular functioni

    GO - Biological processi

    • protein glycosylation Source: UniProtKB
    • protein O-linked glycosylation Source: UniProtKB

    Keywordsi

    Molecular functionGlycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000162885-MONOMER
    BRENDAi2.4.1.313 2681
    ReactomeiR-HSA-5173105 O-linked glycosylation
    SABIO-RKiQ8NCR0
    UniPathwayi
    UPA00378

    Protein family/group databases

    CAZyiGT31 Glycosyltransferase Family 31

    Names & Taxonomyi

    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
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 1

    Organism-specific databases

    EuPathDBiHostDB:ENSG00000162885.12
    HGNCiHGNC:28596 B3GALNT2
    MIMi610194 gene
    neXtProtiNX_Q8NCR0

    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; Source: COMPARTMENTS

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Topological domaini1 – 6CytoplasmicSequence analysis6
    Transmembranei7 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST17
    Topological domaini24 – 500LumenalSequence analysisAdd BLAST477

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    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.
    See also OMIM:615181
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    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

    DisGeNETi148789
    MalaCardsiB3GALNT2
    MIMi615181 phenotype
    OpenTargetsiENSG00000162885
    Orphaneti588 Muscle-eye-brain disease
    899 Walker-Warburg syndrome
    PharmGKBiPA142672567

    Polymorphism and mutation databases

    DMDMi74751196

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00002483621 – 500UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2Add BLAST500

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Glycosylationi116N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

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

    PTM databases

    iPTMnetiQ8NCR0
    PhosphoSitePlusiQ8NCR0

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiENSG00000162885 Expressed in 164 organ(s), highest expression level in body of pancreas
    CleanExiHS_B3GALNT2
    ExpressionAtlasiQ8NCR0 baseline and differential
    GenevisibleiQ8NCR0 HS

    Organism-specific databases

    HPAiHPA012502
    HPA050662

    Interactioni

    Protein-protein interaction databases

    BioGridi127169, 21 interactors
    IntActiQ8NCR0, 1 interactor
    STRINGi9606.ENSP00000355559

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NCR0
    SMRiQ8NCR0
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 31 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG2287 Eukaryota
    ENOG410ZZ1B LUCA
    GeneTreeiENSGT00530000063810
    HOGENOMiHOG000293391
    HOVERGENiHBG080884
    InParanoidiQ8NCR0
    KOiK09654
    OMAiRNVPAKL
    OrthoDBiEOG091G0TUV
    PhylomeDBiQ8NCR0
    TreeFamiTF314311

    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

    Sequences (2+)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.iShow all

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

    This isoform has been chosen as the 'canonical' 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
    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.

    Note: No experimental confirmation available.
    Show »
    Length:326
    Mass (Da):35,649
    Checksum:iDF1129745F801D9D
    GO

    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:

    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
    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:
    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]
    UniGeneiHs.498143

    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]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Entry informationi

    Entry nameiB3GL2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NCR0
    Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7
    Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: October 1, 2002
    Last modified: September 12, 2018
    This is version 130 of the entry and version 1 of the sequence. See complete history.
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome
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    Main funding by: National Institutes of Health

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