Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NHY0

- B4GN2_HUMAN

UniProt

Q8NHY0 - B4GN2_HUMAN

Protein

Beta-1,4 N-acetylgalactosaminyltransferase 2

Gene

B4GALNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.2 Publications

    Pathwayi

    GO - Molecular functioni

    1. acetylgalactosaminyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. lipid glycosylation Source: InterPro
    2. negative regulation of cell-cell adhesion Source: UniProtKB
    3. protein glycosylation Source: UniProtKB-UniPathway
    4. UDP-N-acetylgalactosamine metabolic process Source: UniProtKB
    5. UDP-N-acetylglucosamine metabolic process Source: Ensembl

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BRENDAi2.4.1.165. 2681.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT12. Glycosyltransferase Family 12.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,4 N-acetylgalactosaminyltransferase 2 (EC:2.4.1.-)
    Alternative name(s):
    Sd(a) beta-1,4-GalNAc transferase
    UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase
    Gene namesi
    Name:B4GALNT2
    Synonyms:GALGT2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:24136. B4GALNT2.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of Golgi membrane Source: InterPro
    2. integral component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134988070.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 566566Beta-1,4 N-acetylgalactosaminyltransferase 2PRO_0000059103Add
    BLAST

    Proteomic databases

    MaxQBiQ8NHY0.
    PaxDbiQ8NHY0.
    PRIDEiQ8NHY0.

    PTM databases

    PhosphoSiteiQ8NHY0.

    Expressioni

    Tissue specificityi

    Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum.1 Publication

    Gene expression databases

    ArrayExpressiQ8NHY0.
    BgeeiQ8NHY0.
    CleanExiHS_B4GALNT2.
    GenevestigatoriQ8NHY0.

    Organism-specific databases

    HPAiHPA015721.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000300404.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NHY0.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6767CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini89 – 566478LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei68 – 8821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 2 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG40821.
    HOGENOMiHOG000220853.
    HOVERGENiHBG004812.
    InParanoidiQ8NHY0.
    KOiK09655.
    OMAiYYTMPFG.
    OrthoDBiEOG7R2BJS.
    PhylomeDBiQ8NHY0.
    TreeFamiTF332297.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR001173. Glyco_trans_2-like.
    IPR011143. GM2_synthase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF00535. Glycos_transf_2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000474. GM2_GD2_synthase. 1 hit.
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NHY0-1) [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

    MGSAGFSVGK FHVEVASRGR ECVSGTPECG NRLGSAGFGA LCLELRGADP    50
    AWGPFAAHGR SRRQGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP 100
    KPELPSPAPG VQKLKLLPEE RLRNLFSYDG IWLFPKNQCK CEANKEQGGY 150
    NFQDAYGQSD LPAVKARRQA EFEHFQRREG LPRPLPLLVQ PNLPFGYPVH 200
    GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA DVPDSVVQGR 250
    GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV 300
    TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL 350
    TVIVADDSQK PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD 400
    DDFLFNEETK IEVLVDVLEK TELDVVGGSV LGNVFQFKLL LEQSENGACL 450
    HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT ERLQRVGFDP RLQRVAHSEF 500
    FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT YRSNTLTRVQ 550
    FKLALHYFKN HLQCAA 566
    Length:566
    Mass (Da):63,258
    Last modified:May 18, 2010 - v2
    Checksum:i14B7DEBA30CB4E93
    GO
    Isoform 2 (identifier: Q8NHY0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-64: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQ → MTSG

    Show »
    Length:506
    Mass (Da):57,032
    Checksum:i8D03899FADBFB812
    GO
    Isoform 3 (identifier: Q8NHY0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-86: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:480
    Mass (Da):54,203
    Checksum:i0BBF724167537638
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti40 – 401A → D.3 Publications
    Corresponds to variant rs7207403 [ dbSNP | Ensembl ].
    VAR_049238
    Natural varianti459 – 4591P → H in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035990
    Natural varianti466 – 4661C → R.
    Corresponds to variant rs7224888 [ dbSNP | Ensembl ].
    VAR_049239

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8686Missing in isoform 3. 1 PublicationVSP_045195Add
    BLAST
    Alternative sequencei1 – 6464MGSAG…RSRRQ → MTSG in isoform 2. 1 PublicationVSP_017131Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ517770 mRNA. Translation: CAD57148.1.
    AJ517771 mRNA. Translation: CAD57149.1.
    AF510036 mRNA. Translation: AAM34756.1.
    AK302876 mRNA. Translation: BAG64056.1.
    AC069454 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94691.1.
    BC113675 mRNA. Translation: AAI13676.1.
    BC113677 mRNA. Translation: AAI13678.1.
    CCDSiCCDS11544.1. [Q8NHY0-1]
    CCDS54139.1. [Q8NHY0-2]
    CCDS54140.1. [Q8NHY0-3]
    RefSeqiNP_001152859.1. NM_001159387.1. [Q8NHY0-2]
    NP_001152860.1. NM_001159388.1. [Q8NHY0-3]
    NP_703147.2. NM_153446.2. [Q8NHY0-1]
    UniGeneiHs.374679.

    Genome annotation databases

    EnsembliENST00000300404; ENSP00000300404; ENSG00000167080. [Q8NHY0-1]
    ENST00000393354; ENSP00000377022; ENSG00000167080. [Q8NHY0-2]
    ENST00000504681; ENSP00000425510; ENSG00000167080. [Q8NHY0-3]
    GeneIDi124872.
    KEGGihsa:124872.
    UCSCiuc002ion.2. human. [Q8NHY0-1]
    uc010wlu.1. human. [Q8NHY0-2]

    Polymorphism databases

    DMDMi296434406.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Beta-1,4 N-acetylgalactosaminyltransferase 2

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ517770 mRNA. Translation: CAD57148.1 .
    AJ517771 mRNA. Translation: CAD57149.1 .
    AF510036 mRNA. Translation: AAM34756.1 .
    AK302876 mRNA. Translation: BAG64056.1 .
    AC069454 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94691.1 .
    BC113675 mRNA. Translation: AAI13676.1 .
    BC113677 mRNA. Translation: AAI13678.1 .
    CCDSi CCDS11544.1. [Q8NHY0-1 ]
    CCDS54139.1. [Q8NHY0-2 ]
    CCDS54140.1. [Q8NHY0-3 ]
    RefSeqi NP_001152859.1. NM_001159387.1. [Q8NHY0-2 ]
    NP_001152860.1. NM_001159388.1. [Q8NHY0-3 ]
    NP_703147.2. NM_153446.2. [Q8NHY0-1 ]
    UniGenei Hs.374679.

    3D structure databases

    ProteinModelPortali Q8NHY0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000300404.

    Protein family/group databases

    CAZyi GT12. Glycosyltransferase Family 12.

    PTM databases

    PhosphoSitei Q8NHY0.

    Polymorphism databases

    DMDMi 296434406.

    Proteomic databases

    MaxQBi Q8NHY0.
    PaxDbi Q8NHY0.
    PRIDEi Q8NHY0.

    Protocols and materials databases

    DNASUi 124872.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300404 ; ENSP00000300404 ; ENSG00000167080 . [Q8NHY0-1 ]
    ENST00000393354 ; ENSP00000377022 ; ENSG00000167080 . [Q8NHY0-2 ]
    ENST00000504681 ; ENSP00000425510 ; ENSG00000167080 . [Q8NHY0-3 ]
    GeneIDi 124872.
    KEGGi hsa:124872.
    UCSCi uc002ion.2. human. [Q8NHY0-1 ]
    uc010wlu.1. human. [Q8NHY0-2 ]

    Organism-specific databases

    CTDi 124872.
    GeneCardsi GC17P047210.
    HGNCi HGNC:24136. B4GALNT2.
    HPAi HPA015721.
    neXtProti NX_Q8NHY0.
    PharmGKBi PA134988070.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40821.
    HOGENOMi HOG000220853.
    HOVERGENi HBG004812.
    InParanoidi Q8NHY0.
    KOi K09655.
    OMAi YYTMPFG.
    OrthoDBi EOG7R2BJS.
    PhylomeDBi Q8NHY0.
    TreeFami TF332297.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BRENDAi 2.4.1.165. 2681.

    Miscellaneous databases

    GeneWikii B4GALNT2.
    GenomeRNAii 124872.
    NextBioi 81412.
    PROi Q8NHY0.

    Gene expression databases

    ArrayExpressi Q8NHY0.
    Bgeei Q8NHY0.
    CleanExi HS_B4GALNT2.
    Genevestigatori Q8NHY0.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR001173. Glyco_trans_2-like.
    IPR011143. GM2_synthase.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF00535. Glycos_transf_2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000474. GM2_GD2_synthase. 1 hit.
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain."
      Montiel M.D., Krzewinski-Recchi M.A., Delannoy P., Harduin-Lepers A.
      Biochem. J. 373:369-379(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY, VARIANT ASP-40.
    2. "Molecular cloning of the human beta1,4 N-acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain."
      Lo Presti L., Cabuy E., Chiricolo M., Dall'Olio F.
      J. Biochem. 134:675-682(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ASP-40.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Testis.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-40.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-459.

    Entry informationi

    Entry nameiB4GN2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NHY0
    Secondary accession number(s): B4DZE4, Q14CP1, Q86Y40
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 97 of the entry and version 2 of the sequence. [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

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3