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Protein

Beta-1,4 N-acetylgalactosaminyltransferase 2

Gene

B4GALNT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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: 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

  • acetylgalactosaminyltransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.165 2681
ReactomeiR-HSA-446203 Asparagine N-linked glycosylation
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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000167080.8
HGNCiHGNC:24136 B4GALNT2
MIMi111730 gene
neXtProtiNX_Q8NHY0

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 – 67CytoplasmicSequence analysisAdd BLAST67
Transmembranei68 – 88Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini89 – 566LumenalSequence analysisAdd BLAST478

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi124872
OpenTargetsiENSG00000167080
PharmGKBiPA134988070

Polymorphism and mutation databases

BioMutaiB4GALNT2
DMDMi296434406

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000591031 – 566Beta-1,4 N-acetylgalactosaminyltransferase 2Add BLAST566

Proteomic databases

MaxQBiQ8NHY0
PaxDbiQ8NHY0
PeptideAtlasiQ8NHY0
PRIDEiQ8NHY0
ProteomicsDBi73783
73784 [Q8NHY0-2]

PTM databases

iPTMnetiQ8NHY0
PhosphoSitePlusiQ8NHY0

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

BgeeiENSG00000167080
CleanExiHS_B4GALNT2
GenevisibleiQ8NHY0 HS

Organism-specific databases

HPAiHPA015721

Interactioni

Protein-protein interaction databases

IntActiQ8NHY0, 2 interactors
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

eggNOGiENOG410IF61 Eukaryota
ENOG4111N56 LUCA
GeneTreeiENSGT00390000006679
HOGENOMiHOG000220853
HOVERGENiHBG004812
InParanoidiQ8NHY0
KOiK09655
OMAiYYTMPFG
OrthoDBiEOG091G04CW
PhylomeDBiQ8NHY0
TreeFamiTF332297

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR001173 Glyco_trans_2-like
IPR011143 GM2_synthase
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF00535 Glycos_transf_2, 1 hit
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04923840A → D3 PublicationsCorresponds to variant dbSNP:rs7207403Ensembl.1
Natural variantiVAR_035990459P → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_049239466C → R. Corresponds to variant dbSNP:rs7224888Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0451951 – 86Missing in isoform 3. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_0171311 – 64MGSAG…RSRRQ → MTSG in isoform 2. 1 PublicationAdd BLAST64

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]
XP_016879662.1, XM_017024173.1 [Q8NHY0-3]
UniGeneiHs.374679

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB4GN2_HUMAN
AccessioniPrimary (citable) accession number: Q8NHY0
Secondary accession number(s): B4DZE4, Q14CP1, Q86Y40
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 118 of the entry and version 2 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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