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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

B3GALNT2 Gene

protein-coding GIFtS: 43
GCID: GC01M235613

beta-1,3-N-acetylgalactosaminyltransferase 2

(Previous names: UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase,...)

Search for B3GALNT2
in

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-1,3-N-Acetylgalactosaminyltransferase 2¹ ²		Beta-1,3-Galactosaminyltransferase 2²
UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 2¹ ²		UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 2²
Beta-1,3-N-Acetylgalactosaminyltransferase II² ³		UDP-GalNAc:BetaGlcNAc Beta 1,3-Galactosaminyltransferase, Polypeptide 2²
MGC39558¹		Beta-1,3-GalNAc-T2³
B3GalNAc-T2²		EC 2.4.1.-³
Beta 1,3-N-Acetylgalactosaminyltransferase-II (MGC39558)²		EC 2.4.1⁸
Beta-1,3-GalNAc-T2³

External Ids:	HGNC: 28596¹	Entrez Gene: 148789²	Ensembl: ENSG00000162885⁷	OMIM: 610194⁵	UniProtKB: Q8NCR0³

Export aliases for B3GALNT2 gene to outside databases

Previous GC identifers: GC01M231940 GC01M233679 GC01M206062

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

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0

Function: Beta-1,3-N-acetylgalactosaminyltransferase active in synthesizing a unique carbohydrate structure,

GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any

acceptor substrate

(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_000001.10 NC_018912.1 NT_167186.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the B3GALNT2 gene promoter:
AML1a MEF-2 MEF-2A GATA-6 aMEF-2 NF-Y CBF(2) Ik-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for B3GALNT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GALNT2

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

Entrez Gene cytogenetic band: 1q42.3 Ensembl cytogenetic band: 1q42.3 HGNC cytogenetic band: 1q42.3

B3GALNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GALNT2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M235613: view genomic region (about GC identifiers)

Start:	235,610,533 bp from pter	End:	235,667,781 bp from pter
Size:	57,249 bases	Orientation:	minus 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: B3GL2_HUMAN, Q8NCR0 (See protein sequence)

Recommended Name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Size: 500 amino acids; 56704 Da

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

Sequence caution: Sequence=AAH16974.1; Type=Erroneous initiation;

Secondary accessions: Q59GR3 Q5TCI3 Q96AL7

Alternative splicing: 2 isoforms: Q8NCR0-1 Q8NCR0-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B3GALNT2: NX_Q8NCR0

Post-translational modifications:

N-glycosylated (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NCR0

3 DME Specific Peptides for B3GALNT2 (Q8NCR0)

GKWQELEY

YKPVEQFILP

SPAYPAFACGSGY

B3GALNT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689703.1

ENSEMBL proteins:

ENSP00000355559 ENSP00000315678

Human Recombinant Protein Products:

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	Browse Proteins at Uscn

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:0000139	Golgi membrane	IEA	--
GO:0016020	membrane	--	--
GO:0016021	integral to membrane	IEA	--

B3GALNT2 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

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

B3GALNT2 for domains About GeneDecksing

1 InterPro domain/family:

IPR002659 Glyco_trans_31

Graphical View of Domain Structure for InterPro Entry Q8NCR0

ProtoNet protein and cluster: Q8NCR0

1 Blocks protein family: IPB002659 Glycosyl transferase

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0

Similarity: Belongs to the glycosyltransferase 31 family

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

Function Summary:

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0

Function: Beta-1,3-N-acetylgalactosaminyltransferase active in synthesizing a unique carbohydrate structure,

GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any

acceptor substrate

Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for UDP-GalNAc; KM=11 mM for GlcNAc-beta-Bn;

Enzyme Numbers (IUBMB): EC 2.4.1² EC 2.4.1.-¹

miRNA Products:		OriGene 3'-UTR Clone: B3GALNT2 Browse MicroRNA Expression Plasmids
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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008378	galactosyltransferase activity	IEA	--

B3GALNT2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for B3GALNT2:

Decreased viability

(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: B3GL2_HUMAN, Q8NCR0

Pathway: Protein modification; protein glycosylation

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for B3GALNT2

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006486	protein glycosylation	IEA	--

B3GALNT2 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 B3GALNT2
Search CenterWatch for drugs/clinical trials and news about B3GALNT2 / B3GL2

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for B3GALNT2 gene:

NM_152490.2

Unigene Cluster for B3GALNT2:

Beta-1,3-N-acetylgalactosaminyltransferase 2

Hs.743413 [show with all ESTs]

Unigene Representative Sequence: NM_152490

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

ENST00000366600(uc001hxc.2) ENST00000477694 ENST00000462374 ENST00000478199(uc001hxd.1)

ENST00000313984 ENST00000494378 ENST00000461994

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		8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate B3GALNT2 (see all 49):
		hsa-miR-21* hsa-miR-1260b hsa-miR-30d hsa-miR-29b-1* hsa-miR-4267 hsa-miR-30a hsa-miR-9 hsa-miR-330-3p

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Additional cDNA sequence:

AB209046.1 AK130297.1 AK311626.1 BC016974.1 BC029564.1

11 DOTS entries:

DT.40119049 DT.112386 DT.40110379 DT.452426 DT.100018607 DT.121438830 DT.121438647 DT.95236950

DT.100721410 DT.100789308 DT.95124398

24/117 AceView cDNA sequences (see all 117):

BM127930 AL046949 AI382500 BG030855 AI086269 BQ774915 AA052947 AI140417

AL041615 BC016974 AL041616 W60613 AI289091 BQ221255 AA935168 AI439682

AI347669 BE296530 BM760100 CB160860 BG180278 AI190754 AA983214 CA414713

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT2 (see all 7) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	·	8c	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	^	14
SP1:					-						-						-		-		-				-				-
SP2:											-						-		-		-				-
SP3:																																															-
SP4:					-				-		-
SP5:																									-				-		-

ECgene alternative splicing isoforms for B3GALNT2

(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

B3GALNT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGAATGTAAC

About this image
See B3GALNT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for B3GALNT2

SOURCE GeneReport for Unigene cluster: Hs.743413

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0

Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle

and ovary

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In Situ
Assay Products:

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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 eukaryotes.

Orthologs for B3GALNT2 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	B3GALNT2¹	beta-1,3-N-acetylgalactosaminyltransferase 2	79.68(n) 85.31(a)		430770 XM_419557.3 XP_419557.3
lizard (Anolis carolinensis)	Reptilia	B3GALNT2⁶	--	84(a)	1 ↔ 1	1(219440190-219464454)
African clawed frog (Xenopus laevis)	Amphibia	Xl.18445²	Xenopus laevis transcribed sequence with weak similarity more	75.78(n)		BJ629119.1
zebrafish (Danio rerio)	Actinopterygii	b3galnt2¹	beta-1,3-N-acetylgalactosaminyltransferase 2	57.06(n) 53.78(a)		553716 NM_001020687.1 NP_001018523.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G21060⁶ AT1G74800⁶ (see all 6)	putative beta-1,3-galactosyltransferase 18 (see all 6)	9(a) 9(a) (see all 6)	many ↔ many many ↔ many (see all 6)	4(11240730-11245049) 1(28101968-28105112)
rice (Oryza sativa)	Liliopsida	-- -- (see all 11)	galactosyltransferase family protein, putative, ex... galactosyltransferase family protein, putative, ex... (see all 11)	9(a) 9(a) (see all 11)	many ↔ many many ↔ many (see all 11)	6(6714887-6721018) 7(5127595-5132143)

ENSEMBL Gene Tree for B3GALNT2 (if available)
TreeFam Gene Tree for B3GALNT2 (if available)

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

Paralogs for B3GALNT2 gene

B3GALT6²

B3GALNT2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for B3GALNT2
PGOHUM00000260187

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144929425^1,2		--	235612807(+)	`AACTTC/TAGCAT`	1	--	ut3¹		0	--	--	--	--
rs114586045^1,2	F,	--	235612827(+)	`ATGAGT/CACTAA`	1	--	ut3¹		1		WA	118
rs78516651^1,2		--	235613174(+)	`TTTCTA/GAACTA`	1	--	ut3¹		0	--	--	--	--
rs74151510^1,2	C,	--	235613298(+)	`TCTTCC/TAATAG`	1	--	ut3¹		2		WA	120
rs181993261^1,2		--	235613317(+)	`AAACTA/TTTCTT`	1	--	ut3¹		0	--	--	--	--
rs142036875^1,2		--	235613429(+)	`CCATAC/TAGTCT`	1	--	ut3¹		0	--	--	--	--
rs185791529^1,2	C,	--	235613475(+)	`AGATTA/GTCGTT`	1	--	ut3¹		0	--	--	--	--
rs111541487^1,2	C,F	--	235613537(+)	`GACATC/TGACAA`	2	Q R	mis¹		2		CSA NA	4552
rs151155734^1,2	C,	--	235613538(+)	`ACATCA/GACAAG`	2	R *	stg¹		0	--	--	--	--
rs199861377^1,2		--	235613551(+)	`TCACCA/GCACCG`	2	C	syn¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for B3GALNT2 (235610533 - 235667781 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for B3GALNT2
1 CNV: 48278

SABiosciences Cancer Mutation PCR Assays

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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

B3GALNT2 for disorders About MalaCards

B3GALNT2 for disorders About GeneDecksing

OMIM gene information: 610194 OMIM disorders: --

Export disorders for B3GALNT2 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 B3GALNT2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with B3GALNT2)

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

A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. (PubMed id 14724282)^{1, 2, 3} Hiruma T.... Narimatsu H. (2004)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
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)
Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)¹ Liu B....Wang L.S. (2012)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

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Query String		PubMed OMIM NCBI Bookshelf
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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: 148789	HGNC: 28596	AceView: MGC39558	Ensembl:ENSG00000162885	euGenes: HUgn148789
ECgene: B3GALNT2	H-InvDB: B3GALNT2

(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)
About This Section

Name	Description
PharmGKB entry for B3GALNT2	Pharmacogenomics, SNPs, Pathways
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT2

Intellectual Property for B3GALNT2 gene
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Patent Information for B3GALNT2 gene:
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B3GALNT2 Gene

beta-1,3-N-acetylgalactosaminyltransferase 2

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B3GALNT2 Gene

beta-1,3-N-acetylgalactosaminyltransferase 2

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