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... See more...

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
  • Beta-1,4 N-Acetylgalactosaminyltransferase 2 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
  • Beta-4-N-Acetylgalactosaminyltransferase 3
  • Sda Beta-1,4-GalNAc Transferase 3
  • EC 2.4.1.92 52
  • EC 2.4.1.- 4
  • B4GALT 3

External Ids for B4GALNT2 Gene

Previous HGNC Symbols for B4GALNT2 Gene

  • GALGT2

Previous GeneCards Identifiers for B4GALNT2 Gene

  • GC17P044566
  • GC17P047210
  • GC17P042576

Summaries for B4GALNT2 Gene

Entrez Gene Summary 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 and Tinea Manuum. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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 Summary 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.

Gene Wiki entry for B4GALNT2 Gene

Additional gene information for B4GALNT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALNT2 Gene

Genomics for B4GALNT2 Gene

GeneHancer (GH) Regulatory Elements for B4GALNT2 Gene

Promoters and enhancers for B4GALNT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J049132 Promoter 1.1 EPDnew Ensembl 509.5 +0.4 441 1 ZNF217 EZH2 PCBP1 MYC GABPB1 TAF15 RNF2 ZNF48 IKZF5 ZNF580 B4GALNT2 UBE2Z RPS10P25
GH17J049190 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas 15.1 +60.3 60279 4 RXRA ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC POLR2G TRQ-TTG1-1 lnc-GNGT2-1-001 lnc-GNGT2-1-002 ENSG00000262837 UBE2Z ENSG00000230532 FLJ45513 KAT7 CALCOCO2 FAM117A
GH17J049106 Enhancer 1.1 Ensembl ENCODE 22.3 -25.0 -24959 4.2 EP300 FOXK2 ZNF217 TCF12 NCOR1 FOS KDM6A TCF7 FOXA1 HES1 B4GALNT2 ENSG00000238804 ABI3 GNGT2 HSALNG0117153 B4GALNT2P1 lnc-IGF2BP1-1
GH17J049208 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.9 +82.1 82095 12.1 CTCF SIN3A SP1 JUND FOS EP300 ZIC2 REST POLR2A ZNF623 ABI3 GNGT2 B4GALNT2 CALCOCO2 UBE2Z piR-30804
GH17J049109 Enhancer 0.9 Ensembl ENCODE 22.5 -21.2 -21161 2.7 RELA TRIM24 CEBPG SRF MAX CEBPB FOSL1 ZNF395 EP300 TBP B4GALNT2 ABI3 GNGT2 ENSG00000238804 HSALNG0117153 B4GALNT2P1 lnc-IGF2BP1-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B4GALNT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALNT2

Top Transcription factor binding sites by QIAGEN in the B4GALNT2 gene promoter:
  • HTF
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Nkx6-1
  • POU2F1
  • POU2F1a
  • STAT5B

Genomic Locations for B4GALNT2 Gene

Genomic Locations for B4GALNT2 Gene
chr17:49,132,460-49,176,840
(GRCh38/hg38)
Size:
44,381 bases
Orientation:
Plus strand
chr17:47,209,822-47,247,351
(GRCh37/hg19)
Size:
37,530 bases
Orientation:
Plus strand

Genomic View for B4GALNT2 Gene

Genes around B4GALNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B4GALNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B4DZE4
    • Q14CP1
    • Q86Y40

    Protein attributes for B4GALNT2 Gene

    Size:
    566 amino acids
    Molecular mass:
    63258 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for B4GALNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B4GALNT2 Gene

Selected DME Specific Peptides for B4GALNT2 Gene

Q8NHY0:
  • GVVNFFLA
  • VGFDPRL
  • MPFGKGWFAGRNLA
  • SQVTTKYVLWVDDDF

Post-translational modifications for B4GALNT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for B4GALNT2 Gene

Domains & Families for B4GALNT2 Gene

Gene Families for B4GALNT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for B4GALNT2 Gene

Blocks:
  • Glycosyl transferase, family 2
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B4GALNT2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51410, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 2 (EC 2.4.1.-) (B4DZE4_HUMAN)
  • UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase (B4GN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHY0

UniProtKB/Swiss-Prot:

B4GN2_HUMAN :
  • Belongs to the glycosyltransferase 2 family.
Family:
  • Belongs to the glycosyltransferase 2 family.
genes like me logo Genes that share domains with B4GALNT2: view

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

Phenotypes From GWAS Catalog for B4GALNT2 Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with B4GALNT2: view
genes like me logo Genes that share phenotypes with B4GALNT2: view

Animal Models for B4GALNT2 Gene

MGI Knock Outs for B4GALNT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for B4GALNT2

CRISPR Products

Clone 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B4GALNT2 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for B4GALNT2 Gene

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 --
genes like me logo Genes that share ontologies with B4GALNT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALNT2 Gene

Pathways & Interactions for B4GALNT2 Gene

genes like me logo Genes that share pathways with B4GALNT2: view

Pathways by source for B4GALNT2 Gene

UniProtKB/Swiss-Prot Q8NHY0-B4GN2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B4GALNT2 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 8)
STRING Interaction Network
Selected Interacting proteins: ENSP00000300404 Q8NHY0-B4GN2_HUMAN for B4GALNT2 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with B4GALNT2: view

No data available for SIGNOR curated interactions for B4GALNT2 Gene

Drugs & Compounds for B4GALNT2 Gene

(1) Additional Compounds for B4GALNT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
1811-31-0
genes like me logo Genes that share compounds with B4GALNT2: view

Transcripts for B4GALNT2 Gene

mRNA/cDNA for B4GALNT2 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT2 Gene

No ASD Table

Relevant External Links for B4GALNT2 Gene

GeneLoc Exon Structure for
B4GALNT2

Expression for B4GALNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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).

Protein differential expression in normal tissues from HIPED for B4GALNT2 Gene

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 and MOPED for B4GALNT2 Gene



Protein tissue co-expression partners for B4GALNT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALNT2

SOURCE GeneReport for Unigene cluster for B4GALNT2 Gene:

Hs.374679

mRNA 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)
genes like me logo Genes that share expression patterns with B4GALNT2: view

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.

Orthologs for B4GALNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALNT2 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALNT2 31 30
  • 86.05 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALNT2 31 30
  • 81.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B4galnt2 17 31 30
  • 78.73 (n)
rat
(Rattus norvegicus)
Mammalia LOC688155 30
  • 77.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 71 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia B4GALNT2 31
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 53 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493488 30
  • 56.35 (n)
zebrafish
(Danio rerio)
Actinopterygii b4galnt2.1 31
  • 41 (a)
OneToMany
b4galnt2.2 31
  • 38 (a)
OneToMany
CABZ01039859.1 31
  • 38 (a)
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)

Evolution for B4GALNT2 Gene

ENSEMBL:
Gene Tree for B4GALNT2 (if available)
TreeFam:
Gene Tree for B4GALNT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B4GALNT2: view image

Paralogs for B4GALNT2 Gene

Paralogs for B4GALNT2 Gene

(1) SIMAP similar genes for B4GALNT2 Gene using alignment to 1 proteins:

  • B4GN2_HUMAN

Pseudogenes.org Pseudogenes for B4GALNT2 Gene

genes like me logo Genes that share paralogs with B4GALNT2: view

Variants for B4GALNT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALNT2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
778130 Benign: not provided 49,169,594(+) C/T MISSENSE_VARIANT
787460 Benign: not provided 49,168,885(+) C/T NONSENSE
VAR_035990 A colorectal cancer sample p.Pro459His
rs7207403 - p.Ala40Asp
rs7224888 - p.Cys466Arg

Additional dbSNP identifiers (rs#s) for B4GALNT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for B4GALNT2 Gene

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

Variation tolerance for B4GALNT2 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(27) MalaCards diseases for B4GALNT2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diffuse interstitial keratitis
tinea manuum
  • dermatophytosis of hand
tinea barbae
  • dermatophytosis of beard
phaeohyphomycosis
  • infection by dematiacious fungi
trichosporonosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B4GALNT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with B4GALNT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B4GALNT2 Gene

Publications for B4GALNT2 Gene

  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. (PMID: 12678917) Montiel MD … Harduin-Lepers A (The Biochemical journal 2003) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. DNA hypermethylation contributes to incomplete synthesis of carbohydrate determinants in gastrointestinal cancer. (PMID: 18485915) Kawamura YI … Dohi T (Gastroenterology 2008) 3 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. 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 (Journal of biochemistry 2003) 3 4 54

Products for B4GALNT2 Gene

  • Signalway ELISA kits for B4GALNT2
  • Signalway Proteins for B4GALNT2

Sources for B4GALNT2 Gene