Q8NHY0 (B4GN2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-1,4 N-acetylgalactosaminyltransferase 2
EC=2.4.1.-

Alternative name(s):
Sd(a) beta-1,4-GalNAc transferase
UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase

Gene names

Name:	B4GALNT2
Synonyms:	GALGT2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	566 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

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. Ref.1 Ref.2
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein Potential.
Tissue specificity	Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum. Ref.1
Sequence similarities	Belongs to the glycosyltransferase 2 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	UDP-N-acetylgalactosamine metabolic process Inferred from direct assay Ref.1Ref.2. Source: UniProtKB lipid glycosylation Inferred from electronic annotation. Source: InterPro negative regulation of cell-cell adhesion Inferred from direct assay. Source: UniProtKB
Cellular component	integral to Golgi membrane Inferred from electronic annotation. Source: InterPro
Molecular function	acetylgalactosaminyltransferase activity Inferred from direct assay Ref.1Ref.2. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NHY0-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8NHY0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQ → MTSG

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 566	566	Beta-1,4 N-acetylgalactosaminyltransferase 2		PRO_0000059103
Regions
	Topological domain	1 – 67	67	Cytoplasmic Potential
	Transmembrane	68 – 88	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	89 – 566	478	Lumenal Potential
Natural variations
	Alternative sequence	1 – 64	64	MGSAG…RSRRQ → MTSG in isoform 2.		VSP_017131
	Natural variant	40	1	A → D. Ref.1 Ref.2 Ref.4 Corresponds to variant rs7207403 [ dbSNP | Ensembl ].		VAR_049238
	Natural variant	459	1	P → H in a colorectal cancer sample; somatic mutation. Ref.5		VAR_035990
	Natural variant	466	1	C → R. Corresponds to variant rs7224888 [ dbSNP | Ensembl ].		VAR_049239

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 14B7DEBA30CB4E93	FASTA	566	63,258
	10 20 30 40 50 60 MGSAGFSVGK FHVEVASRGR ECVSGTPECG NRLGSAGFGA LCLELRGADP AWGPFAAHGR 70 80 90 100 110 120 SRRQGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP KPELPSPAPG VQKLKLLPEE 130 140 150 160 170 180 RLRNLFSYDG IWLFPKNQCK CEANKEQGGY NFQDAYGQSD LPAVKARRQA EFEHFQRREG 190 200 210 220 230 240 LPRPLPLLVQ PNLPFGYPVH GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA 250 260 270 280 290 300 DVPDSVVQGR GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV 310 320 330 340 350 360 TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL TVIVADDSQK 370 380 390 400 410 420 PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD DDFLFNEETK IEVLVDVLEK 430 440 450 460 470 480 TELDVVGGSV LGNVFQFKLL LEQSENGACL HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT 490 500 510 520 530 540 ERLQRVGFDP RLQRVAHSEF FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT 550 560 YRSNTLTRVQ FKLALHYFKN HLQCAA
	Isoform 2 [UniParc]. Checksum: 8D03899FADBFB812	FASTA	506	57,032
	10 20 30 40 50 60 MTSGGSRFLW LLKILVIILV LGIVGFMFGS MFLQAVFSSP KPELPSPAPG VQKLKLLPEE 70 80 90 100 110 120 RLRNLFSYDG IWLFPKNQCK CEANKEQGGY NFQDAYGQSD LPAVKARRQA EFEHFQRREG 130 140 150 160 170 180 LPRPLPLLVQ PNLPFGYPVH GVEVMPLHTV PIPGLQFEGP DAPVYEVTLT ASLGTLNTLA 190 200 210 220 230 240 DVPDSVVQGR GQKQLIISTS DRKLLKFILQ HVTYTSTGYQ HQKVDIVSLE SRSSVAKFPV 250 260 270 280 290 300 TIRHPVIPKL YDPGPERKLR NLVTIATKTF LRPHKLMIML RSIREYYPDL TVIVADDSQK 310 320 330 340 350 360 PLEIKDNHVE YYTMPFGKGW FAGRNLAISQ VTTKYVLWVD DDFLFNEETK IEVLVDVLEK 370 380 390 400 410 420 TELDVVGGSV LGNVFQFKLL LEQSENGACL HKRMGFFQPL DGFPSCVVTS GVVNFFLAHT 430 440 450 460 470 480 ERLQRVGFDP RLQRVAHSEF FIDGLGTLLV GSCPEVIIGH QSRSPVVDSE LAALEKTYNT 490 500 YRSNTLTRVQ FKLALHYFKN HLQCAA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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." Montiel M.D., Krzewinski-Recchi M.A., Delannoy P., Harduin-Lepers A. Biochem. J. 373:369-379(2003) [PubMed: 12678917] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY, VARIANT ASP-40.
[2]	"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." Lo Presti L., Cabuy E., Chiricolo M., Dall'Olio F. J. Biochem. 134:675-682(2003) [PubMed: 14688233] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANT ASP-40.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-40.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-459.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4 N-acetylgalactosaminyltransferase 2

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ517770 mRNA. Translation: CAD57148.1. AJ517771 mRNA. Translation: CAD57149.1. AF510036 mRNA. Translation: AAM34756.1. AC069454 Genomic DNA. No translation available. BC113675 mRNA. Translation: AAI13676.1. BC113677 mRNA. Translation: AAI13678.1.
IPI	IPI00169373. IPI00718973.
RefSeq	NP_001152859.1. NM_001159387.1. NP_001152860.1. NM_001159388.1. NP_703147.2. NM_153446.2.
UniGene	Hs.374679.
3D structure databases
ProteinModelPortal	Q8NHY0.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NHY0.
Protein family/group databases
CAZy	GT12. Glycosyltransferase Family 12.
PTM databases
PhosphoSite	Q8NHY0.
Polymorphism databases
DMDM	296434406.
Proteomic databases
PRIDE	Q8NHY0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000300404; ENSP00000300404; ENSG00000167080.
GeneID	124872.
KEGG	hsa:124872.
UCSC	uc002ion.1. human.
Organism-specific databases
CTD	124872.
GeneCards	GC17P047210.
HGNC	HGNC:24136. B4GALNT2.
HPA	HPA015721.
neXtProt	NX_Q8NHY0.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11505.
GeneTree	ENSGT00390000006679.
HOGENOM	HBG445842.
HOVERGEN	HBG004812.
InParanoid	Q8NHY0.
OMA	FEHFQRR.
OrthoDB	EOG4SQWWF.
PhylomeDB	Q8NHY0.
Enzyme and pathway databases
BRENDA	2.4.1.165. 2681.
Gene expression databases
ArrayExpress	Q8NHY0.
Bgee	Q8NHY0.
CleanEx	HS_B4GALNT2.
Genevestigator	Q8NHY0.
GermOnline	ENSG00000167080. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. IPR011143. GM2_synthase. [Graphical view]
KO	K09655.
Pfam	PF00535. Glycos_transf_2. 1 hit. [Graphical view]
PIRSF	PIRSF000474. GM2_GD2_synthase. 1 hit.
ProtoNet	Search...
Other
NextBio	81412.

Entry information

Entry name

B4GN2_HUMAN

Accession

Primary (citable) accession number: Q8NHY0
Secondary accession number(s): Q14CP1, Q86Y40

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2006
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 74 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.