Aliases for B4GALNT2 Gene
Aliases for B4GALNT2 Gene
- Beta-1,4-N-Acetyl-Galactosaminyltransferase 2 2 3 5
- UDP-GalNAc:Neu5Acalpha2-3Galbeta-R Beta1,4-N-Acetylgalactosaminyltransferase 2 3
- UDP-GalNAc:Neu5Aca2-3Galb-R B1,4-N-Acetylgalactosaminyltransferase 3 4
- Sd(A) Beta-1,4-GalNAc Transferase 3 4
- GALGT2 3 4
- Beta 1,4 N-Acetylgalactosaminyltransferase/Betal,4 GalNAcT/Sda-GalNAcT 3
- Beta-1,4-N-Acetyl-Galactosaminyl Transferase 2 3
External Ids for B4GALNT2 Gene
- HGNC: 24136
- Entrez Gene: 124872
- Ensembl: ENSG00000167080
- OMIM: 111730
- UniProtKB: Q8NHY0
Previous HGNC Symbols for B4GALNT2 Gene
- GALGT2
Previous GeneCards Identifiers for B4GALNT2 Gene
- GC17P044566
- GC17P047210
- GC17P042576
Summaries for B4GALNT2 Gene
-
B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
GeneCards Summary for B4GALNT2 Gene
B4GALNT2 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B4GALNT2 include Diffuse Interstitial Keratitis. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring hexosyl groups and acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT1.
UniProtKB/Swiss-Prot for B4GALNT2 Gene
-
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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B4GALNT2 Gene
Genomics for B4GALNT2 Gene
Regulatory Elements for B4GALNT2 Gene
Enhancers for B4GALNT2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around B4GALNT2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for B4GALNT2 Gene
- Chromosome:
- 17
- Start:
- 49,132,460 bp from pter
- End:
- 49,176,840 bp from pter
- Size:
- 44,381 bases
- Orientation:
- Plus strand
Genomic View for B4GALNT2 Gene
Genes around B4GALNT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.32 by Ensembl
- 17q21.32 by Entrez Gene
- 17q21.32 by HGNC
B4GALNT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B4GALNT2 Gene
Proteins for B4GALNT2 Gene
-
Protein details for B4GALNT2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NHY0-B4GN2_HUMAN
- Recommended name:
- Beta-1,4 N-acetylgalactosaminyltransferase 2
- Protein Accession:
- Q8NHY0
- B4DZE4
- Q14CP1
- Q86Y40
Protein attributes for B4GALNT2 Gene
- Size:
- 566 amino acids
- Molecular mass:
- 63258 Da
- Quaternary structure:
- No Data Available
Protein Expression for B4GALNT2 Gene
Selected DME Specific Peptides for B4GALNT2 Gene
- Q8NHY0:
-
- GVVNFFLA
- VGFDPRL
- MPFGKGWFAGRNLA
- SQVTTKYVLWVDDDF
Post-translational modifications for B4GALNT2 Gene
Other Protein References for B4GALNT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Abcam antibodies for B4GALNT2
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Cloud-Clone Corp. Antibodies for B4GALNT2
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- antibodies-online Antibodies for B4GALNT2: See all 4
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-
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Assay Products
-
Cloud-Clone Corp Assay Kits for B4GALNT2
- antibodies-online Kits for B4GALNT2: See all 3
Domains & Families for B4GALNT2 Gene
Gene Families for B4GALNT2 Gene
Protein Domains for B4GALNT2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALNT2 Gene
Graphical View of Domain Structure for InterPro Entry
Q8NHY0- Family:
-
- Belongs to the glycosyltransferase 2 family.
Function for B4GALNT2 Gene
Molecular function for B4GALNT2 Gene
- UniProtKB/Swiss-Prot 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.
Enzyme Numbers (IUBMB) for B4GALNT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008376 | acetylgalactosaminyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0016758 | transferase activity, transferring hexosyl groups | IEA | -- |
Phenotypes for B4GALNT2 Gene
- MGI mutant phenotypes for B4GALNT2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for B4GALNT2:
Animal Models for B4GALNT2 Gene
- MGI Knock Outs for B4GALNT2:
-
- B4galnt2 tm1Jbl
Animal Model Products
-
Taconic Biosciences Mouse Models for B4GALNT2
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for B4GALNT2 gene
-
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- Search ViGene Biosciences for B4GALNT2
CRISPR Products
-
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-
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- GenScript: Design CRISPR guide RNA sequences for B4GALNT2
miRNA for B4GALNT2 Gene
- miRTarBase miRNAs that target B4GALNT2
-
- mmu-mir-706 (MIRT587918)
- mmu-mir-10a-5p (MIRT587919)
- mmu-mir-10b-5p (MIRT587920)
- mmu-mir-339-5p (MIRT587921)
- mmu-mir-290a-5p (MIRT587922)
- mmu-mir-292a-5p (MIRT587923)
- mmu-mir-1896 (MIRT587924)
- mmu-mir-129-1-3p (MIRT587925)
- mmu-mir-129-2-3p (MIRT587926)
- mmu-mir-3085-3p (MIRT587927)
- mmu-mir-3064-5p (MIRT587928)
- mmu-mir-1199-5p (MIRT599651)
- mmu-mir-546 (MIRT599652)
- mmu-mir-3106-5p (MIRT599653)
- mmu-mir-24-3p (MIRT599654)
- mmu-mir-3092-3p (MIRT599655)
- mmu-mir-1965 (MIRT604348)
- mmu-mir-1946a (MIRT604349)
- mmu-mir-1946b (MIRT604350)
- mmu-mir-323-5p (MIRT604351)
- mmu-mir-3102-5p (MIRT604352)
- mmu-mir-532-5p (MIRT604353)
- mmu-mir-511-5p (MIRT604354)
- mmu-mir-3080-3p (MIRT604355)
- mmu-mir-1935 (MIRT604356)
- mmu-mir-298-5p (MIRT604357)
- mmu-mir-709 (MIRT604358)
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for B4GALNT2
-
ViGene Biosciences adenoviral particle packaged cDNA for B4GALNT2 gene
-
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-
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Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B4GALNT2 Gene
Localization for B4GALNT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT2 Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | NAS | 12678917 |
| GO:0030173 | integral component of Golgi membrane | IEA | -- |
Pathways & Interactions for B4GALNT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Transport to the Golgi and subsequent modification | ||
Pathways by source for B4GALNT2 Gene
3 Reactome pathways for B4GALNT2 Gene
UniProtKB/Swiss-Prot Q8NHY0-B4GN2_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B4GALNT2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006047 | UDP-N-acetylglucosamine metabolic process | IEA | -- |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0018279 | protein N-linked glycosylation via asparagine | TAS | -- |
| GO:0019276 | UDP-N-acetylgalactosamine metabolic process | IDA | 12678917 |
| GO:0022408 | negative regulation of cell-cell adhesion | IDA | 16024623 |
No data available for SIGNOR curated interactions for B4GALNT2 Gene
Drugs & Compounds for B4GALNT2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| N-Acetylgalactosamine |
|
1811-31-0 |
|
Transcripts for B4GALNT2 Gene
mRNA/cDNA for B4GALNT2 Gene
- (5) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (5) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for B4GALNT2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for B4GALNT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALNT2
- GenScript: Design CRISPR guide RNA sequences for B4GALNT2
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for B4GALNT2
- Browse OriGene Inhibitory RNA Products For B4GALNT2
-
ViGene Biosciences ready-to-package AAV shRNAs for B4GALNT2 gene
Clone Products
- Sino Biological Human cDNA Clone for B4GALNT2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for B4GALNT2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for B4GALNT2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for B4GALNT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for B4GALNT2 Gene
This gene is overexpressed in Colon - Transverse (x33.0) and Stomach (x6.2).
This gene is overexpressed in Colon (33.7), Heart (25.6), and Breast (9.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for B4GALNT2 Gene
NURSA nuclear receptor signaling pathways regulating expression of B4GALNT2 Gene:
B4GALNT2SOURCE GeneReport for Unigene cluster for B4GALNT2 Gene:
Hs.374679mRNA Expression by UniProt/SwissProt for B4GALNT2 Gene:
Q8NHY0-B4GN2_HUMAN
Tissue specificity:
Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum.
Evidence on tissue expression from TISSUES for B4GALNT2 Gene
- Intestine(2.3)
- Nervous system(2.2)
- Heart(2.1)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for B4GALNT2
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT2 Gene
Orthologs for B4GALNT2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | B4GALNT2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | B4GALNT2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | B4GALNT2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | B4galnt2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC688155 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | B4GALNT2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100493488 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | b4galnt2.1 35 |
|
OneToMany | |
| b4galnt2.2 35 |
|
OneToMany | |||
| CABZ01039859.1 35 |
|
OneToMany |
- Species where no ortholog for B4GALNT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for B4GALNT2 Gene
(1) SIMAP similar genes for B4GALNT2 Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for B4GALNT2 Gene
Variants for B4GALNT2 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035990 | A colorectal cancer sample | ||||
| rs1000039560 | -- | 49,163,410(+) | ATGAC(C/T)CTCCA | intron-variant | |
| rs1000088906 | -- | 49,131,211(+) | TTTTT(C/T)ACCCC | intron-variant, upstream-variant-2KB | |
| rs1000093102 | -- | 49,120,859(+) | GAATA(A/G)GCTTC | intron-variant | |
| rs1000114625 | -- | 49,147,105(+) | ACTGA(C/G/T)GTGGA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1479n106 | CNV | deletion | 24896259 |
| esv1011150 | CNV | deletion | 20482838 |
| esv1351644 | CNV | deletion | 17803354 |
| esv1972485 | CNV | deletion | 18987734 |
| esv2445547 | CNV | deletion | 19546169 |
| esv2478586 | CNV | deletion | 19546169 |
| esv2716020 | CNV | deletion | 23290073 |
| esv2911 | CNV | loss | 18987735 |
| esv3153790 | CNV | deletion | 24192839 |
| esv3554513 | CNV | deletion | 23714750 |
| esv3640734 | CNV | gain | 21293372 |
| esv3640735 | CNV | loss | 21293372 |
| esv9571 | CNV | loss | 19470904 |
| nsv1065020 | CNV | loss | 25217958 |
| nsv1065769 | CNV | gain | 25217958 |
| nsv1071391 | CNV | deletion | 25765185 |
| nsv1116225 | CNV | deletion | 24896259 |
| nsv1153797 | CNV | deletion | 26484159 |
| nsv978436 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
68.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.63;
91.36% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for B4GALNT2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B4GALNT2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT2 Gene
Disorders for B4GALNT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diffuse interstitial keratitis |
|
|
Search B4GALNT2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for B4GALNT2
No data available for UniProtKB/Swiss-Prot and Genatlas for B4GALNT2 Gene
Publications for B4GALNT2 Gene
- 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. (PMID: 12678917) Montiel M.D. … Harduin-Lepers A. (Biochem. J. 2003) 2 3 4 22 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- DNA hypermethylation contributes to incomplete synthesis of carbohydrate determinants in gastrointestinal cancer. (PMID: 18485915) Kawamura Y.I. … Dohi T. (Gastroenterology 2008) 3 22 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- 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. (PMID: 14688233) Lo Presti L. … Dall'Olio F. (J. Biochem. 2003) 3 4 64
Products for B4GALNT2 Gene
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- ViGene Biosciences adenoviral particle packaged cDNA for B4GALNT2 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for B4GALNT2
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- VectorBuilder custom plasmid, inducible vectors for B4GALNT2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for B4GALNT2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for B4GALNT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
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