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Q8NHY0 (B4GN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:B4GALNT2
Synonyms:GALGT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length566 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.2

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Potential.

Tissue specificity

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

Sequence similarities

Belongs to the glycosyltransferase 2 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NHY0-1)

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.
Isoform 2 (identifier: Q8NHY0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQ → MTSG
Isoform 3 (identifier: Q8NHY0-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-86: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 566566Beta-1,4 N-acetylgalactosaminyltransferase 2
PRO_0000059103

Regions

Topological domain1 – 6767Cytoplasmic Potential
Transmembrane68 – 8821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain89 – 566478Lumenal Potential

Natural variations

Alternative sequence1 – 8686Missing in isoform 3.
VSP_045195
Alternative sequence1 – 6464MGSAG…RSRRQ → MTSG in isoform 2.
VSP_017131
Natural variant401A → D. Ref.1 Ref.2 Ref.6
Corresponds to variant rs7207403 [ dbSNP | Ensembl ].
VAR_049238
Natural variant4591P → H in a colorectal cancer sample; somatic mutation. Ref.8
VAR_035990
Natural variant4661C → R.
Corresponds to variant rs7224888 [ dbSNP | Ensembl ].
VAR_049239

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 14B7DEBA30CB4E93

FASTA56663,258
        10         20         30         40         50         60 
MGSAGFSVGK FHVEVASRGR ECVSGTPECG NRLGSAGFGA LCLELRGADP AWGPFAAHGR 

        70         80         90        100        110        120 
SRRQGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP KPELPSPAPG VQKLKLLPEE 

       130        140        150        160        170        180 
RLRNLFSYDG IWLFPKNQCK CEANKEQGGY NFQDAYGQSD LPAVKARRQA EFEHFQRREG 

       190        200        210        220        230        240 
LPRPLPLLVQ PNLPFGYPVH GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA 

       250        260        270        280        290        300 
DVPDSVVQGR GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV 

       310        320        330        340        350        360 
TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL TVIVADDSQK 

       370        380        390        400        410        420 
PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD DDFLFNEETK IEVLVDVLEK 

       430        440        450        460        470        480 
TELDVVGGSV LGNVFQFKLL LEQSENGACL HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT 

       490        500        510        520        530        540 
ERLQRVGFDP RLQRVAHSEF FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT 

       550        560 
YRSNTLTRVQ FKLALHYFKN HLQCAA 

« Hide

Isoform 2 [UniParc].

Checksum: 8D03899FADBFB812
Show »

FASTA50657,032
Isoform 3 [UniParc].

Checksum: 0BBF724167537638
Show »

FASTA48054,203

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-459.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4 N-acetylgalactosaminyltransferase 2

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11544.1. [Q8NHY0-1]
CCDS54139.1. [Q8NHY0-2]
CCDS54140.1. [Q8NHY0-3]
RefSeqNP_001152859.1. NM_001159387.1. [Q8NHY0-2]
NP_001152860.1. NM_001159388.1. [Q8NHY0-3]
NP_703147.2. NM_153446.2. [Q8NHY0-1]
UniGeneHs.374679.

3D structure databases

ProteinModelPortalQ8NHY0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000300404.

Protein family/group databases

CAZyGT12. Glycosyltransferase Family 12.

PTM databases

PhosphoSiteQ8NHY0.

Polymorphism databases

DMDM296434406.

Proteomic databases

MaxQBQ8NHY0.
PaxDbQ8NHY0.
PRIDEQ8NHY0.

Protocols and materials databases

DNASU124872.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000300404; ENSP00000300404; ENSG00000167080. [Q8NHY0-1]
ENST00000393354; ENSP00000377022; ENSG00000167080. [Q8NHY0-2]
ENST00000504681; ENSP00000425510; ENSG00000167080. [Q8NHY0-3]
GeneID124872.
KEGGhsa:124872.
UCSCuc002ion.2. human. [Q8NHY0-1]
uc010wlu.1. human. [Q8NHY0-2]

Organism-specific databases

CTD124872.
GeneCardsGC17P047210.
HGNCHGNC:24136. B4GALNT2.
HPAHPA015721.
neXtProtNX_Q8NHY0.
PharmGKBPA134988070.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40821.
HOGENOMHOG000220853.
HOVERGENHBG004812.
InParanoidQ8NHY0.
KOK09655.
OMAYYTMPFG.
OrthoDBEOG7R2BJS.
PhylomeDBQ8NHY0.
TreeFamTF332297.

Enzyme and pathway databases

BRENDA2.4.1.165. 2681.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ8NHY0.
BgeeQ8NHY0.
CleanExHS_B4GALNT2.
GenevestigatorQ8NHY0.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR001173. Glyco_trans_2-like.
IPR011143. GM2_synthase.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF00535. Glycos_transf_2. 1 hit.
[Graphical view]
PIRSFPIRSF000474. GM2_GD2_synthase. 1 hit.
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GeneWikiB4GALNT2.
GenomeRNAi124872.
NextBio81412.
PROQ8NHY0.

Entry information

Entry nameB4GN2_HUMAN
AccessionPrimary (citable) accession number: Q8NHY0
Secondary accession number(s): B4DZE4, Q14CP1, Q86Y40
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM