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Q8NHY0

- B4GN2_HUMAN

UniProt

Q8NHY0 - B4GN2_HUMAN

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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

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6767CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei68 – 8821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini89 – 566478LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ8NHY0.
CleanExiHS_B4GALNT2.
ExpressionAtlasiQ8NHY0. baseline and differential.
GenevestigatoriQ8NHY0.

Organism-specific databases

HPAiHPA015721.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000300404.

Structurei

3D structure databases

ProteinModelPortaliQ8NHY0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 2 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG40821.
GeneTreeiENSGT00390000006679.
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

        10         20         30         40         50
MGSAGFSVGK FHVEVASRGR ECVSGTPECG NRLGSAGFGA LCLELRGADP
60 70 80 90 100
AWGPFAAHGR SRRQGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP
110 120 130 140 150
KPELPSPAPG VQKLKLLPEE RLRNLFSYDG IWLFPKNQCK CEANKEQGGY
160 170 180 190 200
NFQDAYGQSD LPAVKARRQA EFEHFQRREG LPRPLPLLVQ PNLPFGYPVH
210 220 230 240 250
GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA DVPDSVVQGR
260 270 280 290 300
GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV
310 320 330 340 350
TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL
360 370 380 390 400
TVIVADDSQK PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD
410 420 430 440 450
DDFLFNEETK IEVLVDVLEK TELDVVGGSV LGNVFQFKLL LEQSENGACL
460 470 480 490 500
HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT ERLQRVGFDP RLQRVAHSEF
510 520 530 540 550
FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT YRSNTLTRVQ
560
FKLALHYFKN HLQCAA
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000006679.
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

Bgeei Q8NHY0.
CleanExi HS_B4GALNT2.
ExpressionAtlasi Q8NHY0. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 98 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