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UniProtKB - Q8NHY0 (B4GN2_HUMAN)
Protein
Beta-1,4 N-acetylgalactosaminyltransferase 2
Gene
B4GALNT2
Organism
Homo sapiens (Human)
Status
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: protein glycosylation Pathwayi
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
- lipid glycosylation Source: InterPro
- negative regulation of cell-cell adhesion Source: UniProtKB
- oligosaccharide biosynthetic process Source: Reactome
- protein N-linked glycosylation via asparagine Source: Reactome
- UDP-N-acetylgalactosamine metabolic process Source: UniProtKB
- UDP-N-acetylglucosamine metabolic process Source: GO_Central
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Enzyme and pathway databases
BRENDAi | 2.4.1.165, 2681 |
PathwayCommonsi | Q8NHY0 |
Reactomei | R-HSA-446203, Asparagine N-linked glycosylation R-HSA-9037629, Lewis blood group biosynthesis |
SignaLinki | Q8NHY0 |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT12, 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24136, B4GALNT2 |
MIMi | 111730, gene |
neXtProti | NX_Q8NHY0 |
VEuPathDBi | HostDB:ENSG00000167080 |
Subcellular locationi
Golgi apparatus
- Golgi apparatus membrane Curated; Single-pass type II membrane protein Curated
Golgi apparatus
- Golgi membrane Source: Reactome
- integral component of Golgi membrane Source: InterPro
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 67 | CytoplasmicSequence analysisAdd BLAST | 67 | |
Transmembranei | 68 – 88 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 89 – 566 | LumenalSequence analysisAdd BLAST | 478 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 124872 |
OpenTargetsi | ENSG00000167080 |
PharmGKBi | PA134988070 |
Miscellaneous databases
Pharosi | Q8NHY0, Tbio |
Genetic variation databases
BioMutai | B4GALNT2 |
DMDMi | 296434406 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000059103 | 1 – 566 | Beta-1,4 N-acetylgalactosaminyltransferase 2Add BLAST | 566 |
Proteomic databases
MassIVEi | Q8NHY0 |
MaxQBi | Q8NHY0 |
PaxDbi | Q8NHY0 |
PeptideAtlasi | Q8NHY0 |
PRIDEi | Q8NHY0 |
ProteomicsDBi | 5593 73783 [Q8NHY0-1] 73784 [Q8NHY0-2] |
PTM databases
GlyGeni | Q8NHY0, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NHY0 |
PhosphoSitePlusi | Q8NHY0 |
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
Bgeei | ENSG00000167080, Expressed in colon and 52 other tissues |
Genevisiblei | Q8NHY0, HS |
Organism-specific databases
HPAi | ENSG00000167080, Tissue enhanced (intestine) |
Interactioni
Binary interactionsi
Q8NHY0
With | #Exp. | IntAct |
---|---|---|
ARL13B [Q3SXY8] | 3 | EBI-1042940,EBI-11343438 |
BSCL2 [J3KQ12] | 3 | EBI-1042940,EBI-11532900 |
FAM209A [Q5JX71] | 3 | EBI-1042940,EBI-18304435 |
OTX2 - isoform 2 [P32243-2] | 3 | EBI-1042940,EBI-9087860 |
Protein-protein interaction databases
BioGRIDi | 125896, 5 interactors |
IntActi | Q8NHY0, 5 interactors |
STRINGi | 9606.ENSP00000300404 |
Miscellaneous databases
RNActi | Q8NHY0, protein |
Structurei
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyltransferase 2 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QTK7, Eukaryota |
GeneTreei | ENSGT00390000006679 |
HOGENOMi | CLU_036051_1_0_1 |
InParanoidi | Q8NHY0 |
OMAi | NHLQCST |
OrthoDBi | 363090at2759 |
PhylomeDBi | Q8NHY0 |
TreeFami | TF332297 |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001173, Glyco_trans_2-like IPR011143, GM2_synthase IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF00535, Glycos_transf_2, 1 hit |
PIRSFi | PIRSF000474, GM2_GD2_synthase, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q8NHY0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049238 | 40 | A → D3 PublicationsCorresponds to variant dbSNP:rs7207403Ensembl. | 1 | |
Natural variantiVAR_035990 | 459 | P → H in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_049239 | 466 | C → R. Corresponds to variant dbSNP:rs7224888Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045195 | 1 – 86 | Missing in isoform 3. 1 PublicationAdd BLAST | 86 | |
Alternative sequenceiVSP_017131 | 1 – 64 | MGSAG…RSRRQ → MTSG in isoform 2. 1 PublicationAdd BLAST | 64 |
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] XP_016879662.1, XM_017024173.1 [Q8NHY0-3] |
Genome annotation databases
Ensembli | ENST00000300404; ENSP00000300404; ENSG00000167080 ENST00000393354; ENSP00000377022; ENSG00000167080 [Q8NHY0-2] ENST00000504681; ENSP00000425510; ENSG00000167080 [Q8NHY0-3] |
GeneIDi | 124872 |
KEGGi | hsa:124872 |
MANE-Selecti | ENST00000393354.7; ENSP00000377022.3; NM_001159387.2; NP_001152859.1 [Q8NHY0-2] |
UCSCi | uc002ion.3, human [Q8NHY0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
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] XP_016879662.1, XM_017024173.1 [Q8NHY0-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125896, 5 interactors |
IntActi | Q8NHY0, 5 interactors |
STRINGi | 9606.ENSP00000300404 |
Protein family/group databases
CAZyi | GT12, Glycosyltransferase Family 12 |
PTM databases
GlyGeni | Q8NHY0, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NHY0 |
PhosphoSitePlusi | Q8NHY0 |
Genetic variation databases
BioMutai | B4GALNT2 |
DMDMi | 296434406 |
Proteomic databases
MassIVEi | Q8NHY0 |
MaxQBi | Q8NHY0 |
PaxDbi | Q8NHY0 |
PeptideAtlasi | Q8NHY0 |
PRIDEi | Q8NHY0 |
ProteomicsDBi | 5593 73783 [Q8NHY0-1] 73784 [Q8NHY0-2] |
Protocols and materials databases
Antibodypediai | 2589, 79 antibodies from 22 providers |
DNASUi | 124872 |
Genome annotation databases
Ensembli | ENST00000300404; ENSP00000300404; ENSG00000167080 ENST00000393354; ENSP00000377022; ENSG00000167080 [Q8NHY0-2] ENST00000504681; ENSP00000425510; ENSG00000167080 [Q8NHY0-3] |
GeneIDi | 124872 |
KEGGi | hsa:124872 |
MANE-Selecti | ENST00000393354.7; ENSP00000377022.3; NM_001159387.2; NP_001152859.1 [Q8NHY0-2] |
UCSCi | uc002ion.3, human [Q8NHY0-1] |
Organism-specific databases
CTDi | 124872 |
DisGeNETi | 124872 |
GeneCardsi | B4GALNT2 |
HGNCi | HGNC:24136, B4GALNT2 |
HPAi | ENSG00000167080, Tissue enhanced (intestine) |
MIMi | 111730, gene |
neXtProti | NX_Q8NHY0 |
OpenTargetsi | ENSG00000167080 |
PharmGKBi | PA134988070 |
VEuPathDBi | HostDB:ENSG00000167080 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QTK7, Eukaryota |
GeneTreei | ENSGT00390000006679 |
HOGENOMi | CLU_036051_1_0_1 |
InParanoidi | Q8NHY0 |
OMAi | NHLQCST |
OrthoDBi | 363090at2759 |
PhylomeDBi | Q8NHY0 |
TreeFami | TF332297 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BRENDAi | 2.4.1.165, 2681 |
PathwayCommonsi | Q8NHY0 |
Reactomei | R-HSA-446203, Asparagine N-linked glycosylation R-HSA-9037629, Lewis blood group biosynthesis |
SignaLinki | Q8NHY0 |
Miscellaneous databases
BioGRID-ORCSi | 124872, 7 hits in 1037 CRISPR screens |
ChiTaRSi | B4GALNT2, human |
GeneWikii | B4GALNT2 |
GenomeRNAii | 124872 |
Pharosi | Q8NHY0, Tbio |
PROi | PR:Q8NHY0 |
RNActi | Q8NHY0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167080, Expressed in colon and 52 other tissues |
Genevisiblei | Q8NHY0, HS |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001173, Glyco_trans_2-like IPR011143, GM2_synthase IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF00535, Glycos_transf_2, 1 hit |
PIRSFi | PIRSF000474, GM2_GD2_synthase, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | B4GN2_HUMAN | |
Accessioni | Q8NHY0Primary (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: | February 23, 2022 | |
This is version 138 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families