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A3GALT2 Gene

protein-coding GIFtS: 35

GC01M033544

alpha 1,3-galactosyltransferase 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
A3galt2 ^³
EC 2.4.1.87 ^³
IGBS3S ^²
iGb3S ^³

Descriptions
Isoglobotriaosylceramide synthase ^², ³
alpha 1,3-galactosyltransferase 2 ^²
iGb3 synthase ^², ³

External Ids
HGNC: 30005¹
Entrez Gene: 127550²
UniProtKB: Q5T0B8³
Ensembl: ENSG00000184389⁷

Search outside databases for aliases for A3GALT2 gene

Previous GC identifer: GC01M033442

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: A3LT2_HUMAN, Q5T0B8

Function: Transfer of galactose from UDP-galactose to an acceptor molecule (R). Synthesizes the

galactose-alpha(1,3)-galactose group, which is the most common carbohydrate containing terminal

alpha-galactose. Preferentially glycosylates lipids

(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 A3GALT2 gene

Entrez Gene cytogenetic band: 1p35.1 Ensembl cytogenetic band: 1p35.1 HGNC cytogenetic band: 1p35.1

A3GALT2 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 1 GeneLoc Exon Structure

GeneLoc location for GC01M033544: (about GC identifiers)

Start:	33,544,954 bp from pter
End:	33,559,286 bp from pter
Size:	14,333 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000001.9 NT_032977.8

(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: A3LT2_HUMAN, Q5T0B8 (See protein sequence)

Recommended Name: Alpha 1,3-galactosyltransferase 2 precursor

Size: 340 amino acids; 38754 Da

Cofactor: Manganese (By similarity)

Subcellular location: Golgi apparatus (Potential)

REFSEQ proteins: NP_001073907.1

ENSEMBL proteins:

ENSP00000333727

Human Recombinant Proteins

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2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IEA	--
GO:0016020	membrane	IEA	--

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Antibodies for A3GALT2:

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Assays for A3GALT2:

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q5T0B8

ProtoNet protein and cluster: Q5T0B8

1 Blocks protein family: IPB005076 Glycosyl transferase

UniProtKB/Swiss-Prot: A3LT2_HUMAN, Q5T0B8

Domain: The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with

the beta-phosphate group of UDP and may also have a role in catalysis

Similarity: Belongs to the glycosyltransferase 6 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 (A3GALT2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Applied Biosystems Silencer® siRNAs for A3GALT2

Sigma-Aldrich siRNA for A3GALT2

Browse shRNA at Sigma-Aldrich

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_001080438
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001080438
untagged cDNA clone in CMV expression vector: NM_001080438

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_001080438

UniProtKB/Swiss-Prot: A3LT2_HUMAN, Q5T0B8

Function: Transfer of galactose from UDP-galactose to an acceptor molecule (R). Synthesizes the

galactose-alpha(1,3)-galactose group, which is the most common carbohydrate containing terminal

alpha-galactose. Preferentially glycosylates lipids

Catalytic activity: UDP-galactose + beta-D-galactosyl-(1->4)-beta-N-acetyl-D-glucosaminyl-R = UDP +

alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-N-acetylglucosaminyl-R

Enzyme Number (IUBMB): EC 2.4.1.87

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for A3galt2):

immune system

normal

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016758	transferase activity, transferring hexosyl groups	IEA	--
GO:0030145	manganese ion binding	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0047276	N-acetyllactosaminide 3-alpha-galactosyltransferase activity	IEA	--

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.)
About This Section

UniProtKB/Swiss-Prot: A3LT2_HUMAN, Q5T0B8

Pathway: Protein modification; protein glycosylation

1 Gene Ontology (GO) biological process term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	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 A3GALT2

(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 (A3GALT2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

Browse Origene for 29mer shRNA kit in GFP-retroviral vector

Sigma-Aldrich siRNA for A3GALT2

Browse shRNA at Sigma-Aldrich

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001080438

REFSEQ mRNAs for A3GALT2 gene:

NM_001080438.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001080438

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001080438
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001080438
                                 untagged cDNA clone in CMV expression vector: NM_001080438

highest scoring ESTs for A3GALT2:

NM_001080438 BU589842

Unigene Cluster for A3GALT2:

Alpha 1,3-galactosyltransferase 2

Hs.653217

Unigene Representative Sequence: NM_001080438

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000330379

(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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A3GALT2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for A3GALT2

¹ Data from GNF BioGPS
About these images

About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.653217

(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 A3GALT2 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	A3GALT2¹	--	alpha 1,3-galactosyltransferase 2	89.73(n) 83.39(a)	487298 XM_544424.2 XP_544424.2
rat (Rattus norvegicus)	A3galt2¹	--	alpha 1,3-galactosyltransferase 2	77.71(n) 69.82(a)	171553 NM_138524.2 NP_612533.1
mouse (Mus musculus)	A3galt2^{1, 5}	4⁵	alpha 1,3-galactosyltransferase 2 (isoglobotriaosylceramide more^{1, 5}	77.38(n)¹ 69.07(a)¹	215493¹ NM_001009819.2¹ NP_001009819.1¹ AK132334⁵ AL611983⁵ (see all 8)

About this table Species with no ortholog for A3GALT2

ENSEMBL Gene Tree for A3GALT2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for A3GALT2 gene

GBGT1² ABO² GLT6D1²

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

10/99 NCBI SNPs in A3GALT2 are shown (see all 99 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 43)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs16835356^1,2	F,H	33561230(+)	`GGTCAC/TGGTTA`	1	--	ng3¹		7		NA EU EA WA	530
--	rs10914682^1,2	A,C	33560974(+)	`cacatC/Gggcct`	1	--	ng3¹		0	--	--	--	--
--	rs12123240^1,2	A	33560743(+)	`ttttaA/Taaaaa`	1	--	ng3¹		0	--	--	--	--
	rs11812052^1,2	C	33545386(+)	`TCCATG/TCAGAA`	1	C/X	non¹ ese³		0	--	--	--	--
	rs4653017^1,2	A,C,F,H	33549315(+)	`AATGCT/CTCTTT`	1	--	int¹		4		EU EA WA	418
	rs9970563^1,2	A,C,F,H	33554121(+)	`TGGGCG/AGGGGG`	1	--	int¹		4		EU EA WA	418
	rs10914681^1,2	A,C,F,H	33548741(+)	`CACTGC/TTTTCT`	1	--	int¹		4		EU EA WA	418
	rs4653027^1,2	A,C,F,H	33557214(+)	`AGACAC/TTGAGA`	1	--	int¹ tfbs³		11		NA EU EA WA	920
	rs4653015^1,2	A,C,F,H	33549018(+)	`AGGAAC/TGCCCT`	1	--	int¹		4		EU EA WA	412
	rs6686500^1,2	A,C,F,H	33558565(+)	`TGCTTA/CTTCTG`	1	--	int¹		7		EU EA WA NA	556

About this table

HapMap Linkage Disequilibrium images for A3GALT2 (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

(Possibly Related Articles in Doctor's Guide)
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(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

6 PubMed articles for A3GALT2 gene:

Expression cloning of a new member of the ABO blood group glycosyltransferases, iGb3 synthase, that directs the synthesis of isoglobo-glycosphingolipids. (PubMed id 10854427)^{2, 3} Keusch J.J....Baenziger J.U. (2000)
Humans lack iGb3 due to the absence of functional iGb3-synthase: implications for NKT cell development and transplantation. (PubMed id 18630988)³ Christiansen D....Sandrin M.S. (2008)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)⁴ Gregory S.G.... Bentley D.R. (2006)
Sensitive detection of isoglobo and globo series tetraglycosylceramides in human thymus by ion trap mass spectrometry. (PubMed id 18056651)¹ Li Y....Zhou D. (2008)
Structural basis of UDP-galactose binding by alpha-1,3-galactosyltransferase (alpha3GT): role of negative charge on aspartic acid 316 in structure and activity. (PubMed id 18651752)¹ Tumbale P....Acharya K.R. (2008)
Carbohydrate residues downstream of the terminal Galalpha(1,3)Gal epitope modulate the specificity of xenoreactive antibodies. (PubMed id 17724458)¹ Milland J....Sandrin M.S. (2007)

(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)
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Entrez Gene: 127550	HGNC: 30005	Ensembl:ENSG00000184389	euGenes: HUgn127550	ECgene: A3GALT2
H-InvDB: A3GALT2

(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)
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Licensable Technologies for A3GALT2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for A3GALT2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

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Invitrogen Clones	Invitrogen Q-PCR Products
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A3GALT2 Gene

protein-coding GIFtS: 35

Aliases &
Descriptions
for A3GALT2

Summaries
for A3GALT2

Genomic Location
for A3GALT2

Proteins
for A3GALT2

Protein Domains/
Families
for A3GALT2

Gene Function
for A3GALT2

Pathways & Interactions
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Drugs & Compounds
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Transcripts
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Expression
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Orthologs
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SNPs/Variants
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Disorders & Mutations
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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

A3GALT2 Gene

protein-coding GIFtS: 35

Aliases & Descriptionsfor A3GALT2

Summariesfor A3GALT2

Genomic Locationfor A3GALT2

Proteinsfor A3GALT2

Protein Domains/Familiesfor A3GALT2

Gene Functionfor A3GALT2

Pathways & Interactionsfor A3GALT2

Drugs & Compoundsfor A3GALT2

Transcriptsfor A3GALT2

Expression for A3GALT2

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Disorders & Mutationsfor A3GALT2

Medical Newsfor A3GALT2

Publicationsfor A3GALT2

Search for A3GALT2

Genome Databases showing A3GALT2

Other Databases showing A3GALT2

Specialized Databases showing A3GALT2

Licensable Technologiesfor A3GALT2

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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 A3GALT2

Summaries
for A3GALT2

Genomic Location
for A3GALT2

Proteins
for A3GALT2

Protein Domains/
Families
for A3GALT2

Gene Function
for A3GALT2

Pathways & Interactions
for A3GALT2

Drugs & Compounds
for A3GALT2

Transcripts
for A3GALT2

Expression
for A3GALT2

Orthologs
for A3GALT2

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SNPs/Variants
for A3GALT2

Disorders & Mutations
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