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B4GALNT2 Gene

protein-coding GIFtS: 46

GC17P044566

beta-1,4-N-acetyl-galactosaminyl transferase 2
(Previous name: UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GALGT2)

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

Aliases
B4GALT ^²
Cad ^¹
EC 2.4.1.- ^³
GALGT2 ^², ³
MGC142235 ^²
MGC142237 ^²
Sda ^¹
beta-4-N-acetylgalactosaminyltransferase ^²

Descriptions
Sd(a) beta-1,4-GalNAc transferase ^³
UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase ^³
UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase ^¹, ²
beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT ^²
beta-1,4-N-acetyl-galactosaminyl transferase 2 ^²
sda beta-1,4-GalNAc transferase ^²

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

Search outside databases for aliases for B4GALNT2 gene

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the B4GALNT2 gene

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)

GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P044566: (about GC identifiers)

Start:	44,565,154 bp from pter
End:	44,602,235 bp from pter
Size:	37,082 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000017.9 NT_010783.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0 (See protein sequence)

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

Size: 566 amino acids; 63302 Da

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

Secondary accessions: Q14CP1 Q86Y40

Alternative splicing: 2 isoforms: Q8NHY0-1 Q8NHY0-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001152859.1 NP_001152860.1 NP_703147.2

ENSEMBL proteins:

ENSP00000377022 ENSP00000300404

Human Recombinant Proteins

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Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005792	microsome	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	NAS	12678917 14688233

About this table

Antibodies for B4GALNT2:

	Browse Antibodies Central at Invitrogen
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	Sigma-Aldrich Antibodies for B4GALNT2
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Assays for B4GALNT2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B4GALNT2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153446

Applied Biosystems Silencer® siRNAs for B4GALNT2

Sigma-Aldrich siRNA for B4GALNT2

Sigma-Aldrich shRNA Panels and shRNA for B4GALNT2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_153446
Myc/DDK tagged cDNA clone in CMV expression vector: NM_153446
untagged cDNA clone in CMV expression vector: NM_153446

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_153446

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

Enzyme Number (IUBMB): EC 2.4.1.-

1 MGI mutant phenotype (inferred from 3 alleles) (MGI details for B4galnt2):

no phenotypic analysis

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008376	acetylgalactosaminyltransferase activity	IDA	12678917 14688233

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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UniProtKB/Swiss-Prot: B4GN2_HUMAN, Q8NHY0

Pathway: Protein modification; protein glycosylation

5/15 Interacting proteins for B4GALNT2 (ENSP00000300404³) via UniProtKB, MINT, and/or STRING (see all 15 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KRIT1	ENSP00000344668³	STRING (score=.951)
CALM3	ENSP00000291295³	STRING (score=.949)
VWF	ENSP00000261405³	STRING (score=.849)
CTTN	ENSP00000365745³	STRING (score=.845)
AGRN	ENSP00000368678³	STRING (score=.843)

About this table

5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	--
GO:0006486	protein amino acid glycosylation	IEA	--
GO:0019276	UDP-N-acetylgalactosamine metabolic process	IDA	12678917 14688233
GO:0022408	negative regulation of cell-cell adhesion	IDA	16024623
GO:0030259	lipid glycosylation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B4GALNT2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B4GALNT2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153446

Sigma-Aldrich siRNA for B4GALNT2

Sigma-Aldrich shRNA Panels and shRNA for B4GALNT2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_153446

REFSEQ mRNAs for B4GALNT2 gene (3 alternative transcripts):

NM_001159387.1 NM_001159388.1 NM_153446.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_153446

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_153446
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_153446
                                 untagged cDNA clone in CMV expression vector: NM_153446

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:

AF510036 AJ517771 NM_153446 S83275 AJ517770

highest scoring ESTs for B4GALNT2:

AF510036 AJ517770 AJ517771 NM_153446 S83275 BC113675 BC113677 AA347157 AA347158 AA347546

Unigene Cluster for B4GALNT2:

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

Hs.374679 [show with all ESTs]

Unigene Representative Sequence: AJ517770

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000393354 ENST00000300404

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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B4GALNT2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for B4GALNT2

¹ / ² / ³

1 probe-set matching B4GALNT2 gene

	Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
	Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
	1552903_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCCAGAAGTG

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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for B4GALNT2 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	B4GALNT2¹	--	beta-1,4-N-acetyl-galactosaminyl transferase 2	86.16(n) 83.67(a)	491067 XM_548187.2 XP_548187.2
chimpanzee (Pan troglodytes)	B4GALNT2¹	--	beta-1,4-N-acetyl-galactosaminyl transferase 2	98.49(n) 98.42(a)	750651 XM_001174877.1 XP_001174877.1
cow (Bos taurus)	B4GALNT2¹	--	beta-1,4-N-acetyl-galactosaminyl transferase 2	81.26(n) 76.74(a)	508108 XM_584835.3 XP_584835.2
mouse (Mus musculus)	B4galnt2^{1, 5}	11 (55.70 cM)⁵	beta-1,4-N-acetyl-galactosaminyl transferase 2^{1, 5}	78.89(n)¹ 74.55(a)¹	14422¹ NM_008081.3¹ NP_032107.1¹ AF067829⁵ AI593864⁵ (see all 16)

About this table Species with no ortholog for B4GALNT2

ENSEMBL Gene Tree for B4GALNT2

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

Paralogs for B4GALNT2 gene

B4GALNT1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/259 NCBI SNPs in B4GALNT2 are shown (see all 259 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 57)

AB	SNP ID	Valid	Chr 17 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs8072572^1,2	A,C,F,H	44563406(+)	`CCTAGC/GCCCAT`	1	--	ng5¹		3		EU EA	300
	rs6504596^1,2	A,C,F,H	44563389(+)	`AACTCC/TTAGGT`	1	--	ng5¹		8		EU EA WA	836
	rs1533923^1,2	A,C,F,H	44602505(-)	`AAAATA/GTAGGG`	1	--	ng3¹		8		EU EA WA NA	622
	rs7207403^1,2	A,C,F,H	44565505(+)	`CGGGGC/ATCTCT`	1	A/D	mis¹ ese³		8		EU EA WA NA	774
	rs2411898^1,2	C,F,H	44564980(-)	`CCCATA/C/GTCTAC`	1	--	ng5¹		7		EU EA WA NA	542
	rs7224888^1,2	C,F,H	44601162(+)	`CCAGCT/CGCGTG`	1	R/C	mis¹ ese³		9		EU EA WA NA	906
	rs4416056^1,2	C,F,H	44564967(+)	`AGAAAA/GGTCCA`	1	--	ng5¹ trp³		8		EU EA WA	832
	rs2177308^1,2	C,F,H	44564860(-)	`TTCCTC/TGCTAT`	1	--	ng5¹ trp³		4		EU EA WA	420
	rs16946920^1,2	F,H	44602392(+)	`AAAGAT/CGACAT`	1	--	ng3¹		7		NA EU EA WA	560
--	rs7220253^1,2	A,C	44563872(+)	`tttttC/Tccttt`	1	--	ng5¹ trp³		0	--	--	--	--

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HapMap Linkage Disequilibrium images for B4GALNT2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 111730

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/14 PubMed articles for B4GALNT2 gene (see all 14 ):

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, 4} 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)^{3, 4} 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)^{3, 4} 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)^{2, 3} Dohi T.... Oshima M. (1996)
DNA hypermethylation contributes to incomplete synthesis of carbohydrate determinants in gastrointestinal cancer. (PubMed id 18485915)^{1, 3} Kawamura Y.I....Dohi T. (2008)
Expression of the human Sd(a) beta-1,4-N-acetylgalactosaminyltransferase II gene is dependent on the promoter methylation status. (PubMed id 17965433)³ Wang H.R....Yu L.C. (2008)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)⁴ Sjoeblom T.... Velculescu V.E. (2006)
Introduction of Sd(a) carbohydrate antigen in gastrointestinal cancer cells eliminates selectin ligands and inhibits metastasis. (PubMed id 16024623)³ Kawamura Y.I....Dohi T. (2005)
Ectopic localizations of Golgi glycosyltransferases. (PubMed id 11886838)³ Berger E.G. (2002)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 124872	HGNC: 24136	AceView: GALGT2	Ensembl:ENSG00000167080	euGenes: HUgn124872
ECgene: B4GALNT2	H-InvDB: B4GALNT2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
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

Licensable Technologies for B4GALNT2
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for B4GALNT2:

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Free SNP selection tool

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B4GALNT2 Gene

protein-coding GIFtS: 46

Aliases &
Descriptions
for B4GALNT2

Summaries
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Genomic Location
for B4GALNT2

Proteins
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Protein Domains/
Families
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Gene Function
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Pathways & Interactions
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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

B4GALNT2 Gene

protein-coding GIFtS: 46

Aliases & Descriptionsfor B4GALNT2

Summariesfor B4GALNT2

Genomic Locationfor B4GALNT2

Proteinsfor B4GALNT2

Protein Domains/Familiesfor B4GALNT2

Gene Functionfor B4GALNT2

Pathways & Interactionsfor B4GALNT2

Drugs & Compoundsfor B4GALNT2

Transcriptsfor B4GALNT2

Expression for B4GALNT2

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Disorders & Mutationsfor B4GALNT2

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Genome Databases showing B4GALNT2

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Specialized Databases showing B4GALNT2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for B4GALNT2

Summaries
for B4GALNT2

Genomic Location
for B4GALNT2

Proteins
for B4GALNT2

Protein Domains/
Families
for B4GALNT2

Gene Function
for B4GALNT2

Pathways & Interactions
for B4GALNT2

Drugs & Compounds
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Paralogs
for B4GALNT2

SNPs/Variants
for B4GALNT2

Disorders & Mutations
for B4GALNT2

Medical News
for B4GALNT2

Publications
for B4GALNT2

Licensable Technologies
for B4GALNT2

Services
for B4GALNT2