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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

B4GALNT2 Gene

protein-coding GIFtS: 49
GCID: GC17P047210

beta-1,4-N-acetyl-galactosaminyl transferase 2

(Previous name: UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase...)
(Previous symbol: GALGT2)

Explore 6 diseases affiliated with
B4GALNT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Beta-1,4-N-Acetyl-Galactosaminyl Transferase 2¹ ²		Beta 1,4 N-Acetylgalactosaminyltransferase/Betal,4 GalNAcT/Sda-GalNAcT²
GALGT2¹ ² ³ ⁵		Beta-1,4 N-Acetylgalactosaminyltransferase 2²
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R Beta1,4-N-Acetylgalactosaminyltransferase¹ ²		Beta-4-N-Acetylgalactosaminyltransferase¹
Sd(A) Beta-1,4-GalNAc Transferase² ³		Sda Beta-1,4-GalNAc Transferase²
UDP-GalNAc:Neu5Aca2-3Galb-R B1,4-N-Acetylgalactosaminyltransferase² ³		EC 2.4.1.-³
Cad¹		B4GALGT2⁵
Sda¹		SD⁵
B4GALT²		EC 2.4.1.92⁸

External Ids:	HGNC: 24136¹	Entrez Gene: 124872²	Ensembl: ENSG00000167080⁷	OMIM: 111730⁵	UniProtKB: Q8NHY0³

Export aliases for B4GALNT2 gene to outside databases

Previous GC identifers: GC17P044566 GC17P042576

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for B4GALNT2:

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)

UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0

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

Gene Wiki entry for B4GALNT2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the B4GALNT2 gene promoter:
STAT5B Nkx3-1 Nkx3-1 v4 HTF Nkx3-1 v1 Nkx3-1 v2 POU2F1 Nkx6-1 POU2F1a Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: B4GALNT2 promoter sequence

Search SABiosciences Chromatin IP Primers for B4GALNT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALNT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.32 Ensembl cytogenetic band: 17q21.32 HGNC cytogenetic band: 17q21.33

B4GALNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALNT2 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P047210: view genomic region (about GC identifiers)

Start:	47,209,822 bp from pter	End:	47,247,351 bp from pter
Size:	37,530 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0 (See protein sequence)

Recommended Name: Beta-1,4 N-acetylgalactosaminyltransferase 2

Size: 566 amino acids; 63258 Da

Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)

Secondary accessions: B4DZE4 Q14CP1 Q86Y40

Alternative splicing: 3 isoforms: Q8NHY0-1 Q8NHY0-2 Q8NHY0-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B4GALNT2: NX_Q8NHY0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NHY0

4 DME Specific Peptides for B4GALNT2 (Q8NHY0)

VGFDPRL

GVVNFFLA

MPFGKGWFAGRNLA

SQVTTKYVLWVDDDF

B4GALNT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001152859.1 NP_001152860.1 NP_703147.2

ENSEMBL proteins:

ENSP00000425510 ENSP00000377022 ENSP00000300404

Human Recombinant Protein Products for B4GALNT2:

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	NAS	14688233
GO:0030173	integral to Golgi membrane	IEA	--

B4GALNT2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

B4GALNT2 for domains About GeneDecksing

2 InterPro domains/families:

IPR011143 GM2_synthase

IPR001173 Glyco_trans_2

Graphical View of Domain Structure for InterPro Entry Q8NHY0

ProtoNet protein and cluster: Q8NHY0

1 Blocks protein family: IPB001173 Glycosyl transferase

UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0

Similarity: Belongs to the glycosyltransferase 2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: B4GN2_HUMAN, Q8NHY0

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): EC 2.4.1.92² EC 2.4.1.-¹

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008376	acetylgalactosaminyltransferase activity	IDA	14688233
GO:0016757	transferase activity, transferring glycosyl groups	--	--

B4GALNT2 for ontologies About GeneDecksing

Phenotypes:
3 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for B4galnt2):

cellular

digestive/alimentary

no phenotypic analysis

B4GALNT2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out B4galnt2^tm1Jbl for B4GALNT2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for B4GALNT2

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0

Pathway: Protein modification; protein glycosylation

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for B4GALNT2

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	--
GO:0006486	protein glycosylation	IEA	--
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	14688233
GO:0022408	negative regulation of cell-cell adhesion	IDA	16024623
GO:0030259	lipid glycosylation	IEA	--

B4GALNT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for B4GALNT2

1 HMDB Compound for B4GALNT2 About this table

Compound	Synonyms	CAS #	PubMed Ids
N-Acetylgalactosamine	2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)	1811-31-0	--

Search CenterWatch for drugs/clinical trials and news about B4GALNT2 / B4GN2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for B4GALNT2 gene (3 alternative transcripts):

NM_001159387.1 NM_001159388.1 NM_153446.2

Unigene Cluster for B4GALNT2:

Beta-1,4-N-acetyl-galactosaminyl transferase 2

Hs.374679 [show with all ESTs]

Unigene Representative Sequence: NM_153446

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000504681(uc010wlt.1 uc010wlu.1) ENST00000393354 ENST00000300404(uc002ion.2)

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Additional cDNA sequence:

AF510036.1 AJ517770.1 AJ517771.1 AK302876.1 BC113675.1 BC113677.1 S83275.1

2 DOTS entries:

DT.91879225 DT.406872

5 AceView cDNA sequences:

AJ517770 NM_153446 AF510036 S83275 AJ517771

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

B4GALNT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCAGAAGTG

About this image

B4GALNT2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Extraembryonic endoderm-like cells (Generation of extrae...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See B4GALNT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B4GALNT2

SOURCE GeneReport for Unigene cluster: Hs.374679

UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0

Tissue specificity: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and

rectum

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for B4GALNT2 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	53(a) 53(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	6(76114373-76142603) 3(174465558-174466841)
zebrafish (Danio rerio)	Actinopterygii	b4galnt2⁶ AL935200.1⁶ (see all 3)	--	41(a) 40(a) (see all 3)	1 ↔ many 1 ↔ many (see all 3)	3(23360963-23376843) 3(23336455-23350529)

ENSEMBL Gene Tree for B4GALNT2 (if available)
TreeFam Gene Tree for B4GALNT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for B4GALNT2 gene

B4GALNT1²

1 SIMAP similar gene for B4GALNT2 using alignment to 1 protein entry: B4GN2_HUMAN:

B4GALNT1

B4GALNT2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for B4GALNT2
PGOHUM00000237430

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145556519^1,2		--	47207889(+)	`CAGCTA/TCTTAG`	1	--	us2k¹		0	--	--	--	--
rs189966330^1,2		--	47207925(+)	`AACCCA/GGGAGG`	1	--	us2k¹		0	--	--	--	--
rs2091039^1,2	C,F,A,H	--	47207963(+)	`CCACTA/GCACTC`	1	--	us2k¹		6		NA	14
rs34451005^1,2	C	--	47208021(+)	`AGTTGA/-TGTAT`	1	--	us2k¹		1		NA	2
rs2091040^1,2	C,F,A,H	--	47208076(+)	`ATTGTT/CGCAGA`	1	--	us2k¹		31		NS EA NA WA	2856
rs145342441^1,2		--	47208140(+)	`TTTTGC/TCCAAG`	2	--	us2k¹		0	--	--	--	--
rs4621014^1,2	H	--	47208215(+)	`cacttC/Ttaagt`	2	--	us2k¹		4		NS EA	418
rs137885171^1,2		--	47208261(+)	`TTTGTC/GTACCT`	2	--	us2k¹		0	--	--	--	--
rs111630239^1,2		--	47208345(+)	`GTGATG/ACAGGG`	3	--	us2k¹		1		CSA	2
rs115602460^1,2	F	--	47208384(+)	`AGACAC/TAACTC`	3	--	us2k¹		1		WA	118

HapMap Linkage Disequilibrium report for B4GALNT2 (47209822 - 47247351 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for B4GALNT2
6 Indels: 41970 61573 25863 40186 45554 102474

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

B4GALNT2 for disorders           About GeneDecksing

OMIM gene information: 111730    OMIM disorders: --

6 diseases for B4GALNT2:    About MalaCards

gonorrhea tracheitis dermatophytosis dacryoadenitis

pharyngitis tuberculosis

3 diseases from the University of Copenhagen DISEASES database for B4GALNT2:

Tracheitis Dermatophytosis Phaeohyphomycosis

Human Genome Epidemiology (HuGE) Navigator: B4GALNT2 (1 document)

Export disorders for B4GALNT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for B4GALNT2 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with B4GALNT2)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 12678917)^{1, 2, 3, 9} Montiel M.D....Harduin-Lepers A. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
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. (PubMed id 14688233)^{1, 2} Lo Presti L.... Dall'Olio F. (2003)
Detection of N-acetylgalactosaminyltransferase mRNA which determines expression of Sda blood group carbohydrate structure in human gastrointestinal mucosa and cancer. (PubMed id 8782649)^{1, 3} Dohi T.... Oshima M. (1996)
DNA hypermethylation contributes to incomplete synthesis of carbohydrate determinants in gastrointestinal cancer. (PubMed id 18485915)^{1, 9} Kawamura Y.I....Dohi T. (2008)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Expression of the human Sd(a) beta-1,4-N-acetylgalactosaminyltransferase II gene is dependent on the promoter methylation status. (PubMed id 17965433)¹ Wang H.R....Yu L.C. (2008)
A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 124872	HGNC: 24136	AceView: GALGT2	Ensembl:ENSG00000167080	euGenes: HUgn124872
ECgene: B4GALNT2	H-InvDB: B4GALNT2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for B4GALNT2	Pharmacogenomics, SNPs, Pathways
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_482

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B4GALNT2 Gene

beta-1,4-N-acetyl-galactosaminyl transferase 2

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B4GALNT2 Gene

beta-1,4-N-acetyl-galactosaminyl transferase 2

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