Q8NHY0 · B4GN2_HUMAN
- ProteinBeta-1,4 N-acetylgalactosaminyltransferase 2
- GeneB4GALNT2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids566 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Pathway
Protein modification; protein glycosylation.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | Golgi membrane | |
Cellular Component | membrane | |
Molecular Function | acetylgalactosaminyltransferase activity | |
Biological Process | lipid glycosylation | |
Biological Process | negative regulation of cell-cell adhesion | |
Biological Process | oligosaccharide biosynthetic process | |
Biological Process | protein import | |
Biological Process | protein N-linked glycosylation via asparagine | |
Biological Process | skeletal muscle fiber differentiation | |
Biological Process | skeletal muscle tissue regeneration | |
Biological Process | UDP-N-acetylgalactosamine metabolic process | |
Biological Process | UDP-N-acetylglucosamine metabolic process |
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameBeta-1,4 N-acetylgalactosaminyltransferase 2
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8NHY0
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Golgi apparatus membrane ; Single-pass type II membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-67 | Cytoplasmic | ||||
Sequence: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQGSR | ||||||
Transmembrane | 68-88 | Helical; Signal-anchor for type II membrane protein | ||||
Sequence: FLWLLKILVIILVLGIVGFMF | ||||||
Topological domain | 89-566 | Lumenal | ||||
Sequence: GSMFLQAVFSSPKPELPSPAPGVQKLKLLPEERLRNLFSYDGIWLFPKNQCKCEANKEQGGYNFQDAYGQSDLPAVKARRQAEFEHFQRREGLPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVYEVTLTASLGTLNTLADVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPVTIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQKPLEIKDNHVEYYTMPFGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEKTELDVVGGSVLGNVFQFKLLLEQSENGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHTERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSPVVDSELAALEKTYNTYRSNTLTRVQFKLALHYFKNHLQCAA |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Sd(a) polyagglutination syndrome (SDPS)
- Note
- DescriptionA condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression.
- See alsoMIM:615018
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_049238 | 40 | in dbSNP:rs7207403 | |||
Sequence: A → D | ||||||
Natural variant | VAR_086499 | 436 | found in individuals with Sd(a-) phenotype; dbSNP:rs148441237 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_035990 | 459 | in a colorectal cancer sample; somatic mutation; dbSNP:rs2042934144 | |||
Sequence: P → H | ||||||
Natural variant | VAR_049239 | 466 | found in individuals with Sd(a-) phenotype; dbSNP:rs7224888 | |||
Sequence: C → R | ||||||
Natural variant | VAR_086500 | 523 | found in individuals with Sd(a-) phenotype; dbSNP:rs61743617 | |||
Sequence: R → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 678 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000059103 | 1-566 | Beta-1,4 N-acetylgalactosaminyltransferase 2 | |||
Sequence: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQGSRFLWLLKILVIILVLGIVGFMFGSMFLQAVFSSPKPELPSPAPGVQKLKLLPEERLRNLFSYDGIWLFPKNQCKCEANKEQGGYNFQDAYGQSDLPAVKARRQAEFEHFQRREGLPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVYEVTLTASLGTLNTLADVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPVTIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQKPLEIKDNHVEYYTMPFGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEKTELDVVGGSVLGNVFQFKLLLEQSENGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHTERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSPVVDSELAALEKTYNTYRSNTLTRVQFKLALHYFKNHLQCAA |
Proteomic databases
PTM databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8NHY0 | ARL13B Q3SXY8 | 3 | EBI-1042940, EBI-11343438 | |
BINARY | Q8NHY0 | BSCL2 J3KQ12 | 3 | EBI-1042940, EBI-11532900 | |
BINARY | Q8NHY0 | FAM209A Q5JX71 | 3 | EBI-1042940, EBI-18304435 | |
BINARY | Q8NHY0 | OTX2 P32243-2 | 3 | EBI-1042940, EBI-9087860 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
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.
- Name1
- Length566
- Mass (Da)63,258
- Last updated2010-05-18 v2
- Checksum14B7DEBA30CB4E93
Q8NHY0-2
- Name2
- Differences from canonical
- 1-64: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQ → MTSG
Q8NHY0-3
- Name3
- Differences from canonical
- 1-86: Missing
Features
Showing features for alternative sequence.
Polymorphism
The Sd(a) antigen on red blood cells defines the SID blood group system. There is considerable variability in the strength of antigen expression, ranging from ordinary Sd(a+) to strong Sd(a++) expression [MIM:615018]. Lack of Sd(a) antigen results in the Sd(a-) phenotype, due to genetic variants in B4GALNT2.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ517770 EMBL· GenBank· DDBJ | CAD57148.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ517771 EMBL· GenBank· DDBJ | CAD57149.1 EMBL· GenBank· DDBJ | mRNA | ||
AF510036 EMBL· GenBank· DDBJ | AAM34756.1 EMBL· GenBank· DDBJ | mRNA | ||
AK302876 EMBL· GenBank· DDBJ | BAG64056.1 EMBL· GenBank· DDBJ | mRNA | ||
AC069454 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471109 EMBL· GenBank· DDBJ | EAW94691.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC113675 EMBL· GenBank· DDBJ | AAI13676.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113677 EMBL· GenBank· DDBJ | AAI13678.1 EMBL· GenBank· DDBJ | mRNA |