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Q8NCR0 (B3GL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Short name=Beta-1,3-GalNAc-T2
EC=2.4.1.-
Alternative name(s):
Beta-1,3-N-acetylgalactosaminyltransferase II
Gene names
Name:B3GALNT2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length500 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Ref.4 Ref.5 Ref.6

Catalytic activity

UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein. Ref.6

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity. Endoplasmic reticulum Ref.5.

Tissue specificity

Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. Ref.4

Post-translational modification

N-glycosylated Probable. Ref.4

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the glycosyltransferase 31 family.

Biophysicochemical properties

Kinetic parameters:

KM=5.4 µM for UDP-GalNAc Ref.4

KM=11 mM for GlcNAc-beta-Bn

Sequence caution

The sequence AAH16974.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NCR0-1)

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: Q8NCR0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     37-37: A → AGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGIT
     281-285: EGDAL → GKFAS
     286-500: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 500500UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
PRO_0000248362

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2317Helical; Signal-anchor for type II membrane protein; Potential
Topological domain24 – 500477Lumenal Potential

Amino acid modifications

Glycosylation1161N-linked (GlcNAc...) Potential
Glycosylation1741N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence371A → AGGVSLLLPRLECNGAVSAH PNLHLPGSRDSPASASQVAG IT in isoform 2.
VSP_020250
Alternative sequence281 – 2855EGDAL → GKFAS in isoform 2.
VSP_020251
Alternative sequence286 – 500215Missing in isoform 2.
VSP_020252
Natural variant2031N → S in a breast cancer sample; somatic mutation. Ref.7
VAR_035860
Natural variant2471G → E in MDDGA11; affects subcellular localization. Ref.5
VAR_069638
Natural variant2521V → G in MDDGA11. Ref.5
VAR_069639
Natural variant2681V → M in MDDGA11; affects subcellular localization. Ref.5
VAR_069640
Natural variant2921R → P in MDDGA11; does not affect subcellular localization. Ref.5
VAR_069641

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: F346C95857886026

FASTA50056,704
        10         20         30         40         50         60 
MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH YDVVVGVLSA 

        70         80         90        100        110        120 
RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE VPVEDREDPY SCKLLNITNP 

       130        140        150        160        170        180 
VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR VLYPIVITSL GVFYDANDVG FQRNITVKLY 

       190        200        210        220        230        240 
QAEQEEALFI ARFSPPSCGV QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK 

       250        260        270        280        290        300 
VTVNDGGGVL RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI 

       310        320        330        340        350        360 
RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN LLLKTDDDCY 

       370        380        390        400        410        420 
IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL EYPSPAYPAF ACGSGYVISK 

       430        440        450        460        470        480 
DIVKWLASNS GRLKTYQGED VSMGIWMAAI GPKRYQDSLW LCEKTCETGM LSSPQYSPWE 

       490        500 
LTELWKLKER CGDPCRCQAR 

« Hide

Isoform 2 [UniParc].

Checksum: DF1129745F801D9D
Show »

FASTA32635,649

References

« Hide 'large scale' references
[1]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Mammary gland and Testis.
[3]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-500 (ISOFORM 1).
Tissue: Brain.
[4]"A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc."
Hiruma T., Togayachi A., Okamura K., Sato T., Kikuchi N., Kwon Y.D., Nakamura A., Fujimura K., Gotoh M., Tachibana K., Ishizuka Y., Noce T., Nakanishi H., Narimatsu H.
J. Biol. Chem. 279:14087-14095(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, GLYCOSYLATION, TISSUE SPECIFICITY.
[5]"Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan."
UK10K Consortium
Stevens E., Carss K.J., Cirak S., Foley A.R., Torelli S., Willer T., Tambunan D.E., Yau S., Brodd L., Sewry C.A., Feng L., Haliloglu G., Orhan D., Dobyns W.B., Enns G.M., Manning M., Krause A., Salih M.A. expand/collapse author list , Walsh C.A., Hurles M., Campbell K.P., Manzini M.C., Stemple D., Lin Y.Y., Muntoni F.
Am. J. Hum. Genet. 92:354-365(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA11 GLU-247; GLY-252; MET-268 AND PRO-292, CHARACTERIZATION OF VARIANTS MDDGA11 GLU-247; MET-268 AND PRO-292.
[6]"SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CATALYTIC ACTIVITY.
[7]"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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-203.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AL135928 Genomic DNA. Translation: CAI21727.1.
AL135928 Genomic DNA. Translation: CAI21728.1.
BC016974 mRNA. Translation: AAH16974.1. Different initiation.
BC029564 mRNA. Translation: AAH29564.1.
AB209046 mRNA. Translation: BAD92283.1.
CCDSCCDS1606.1. [Q8NCR0-1]
CCDS60453.1. [Q8NCR0-2]
RefSeqNP_001264084.1. NM_001277155.2. [Q8NCR0-2]
NP_689703.1. NM_152490.4. [Q8NCR0-1]
UniGeneHs.498143.

3D structure databases

ProteinModelPortalQ8NCR0.
SMRQ8NCR0. Positions 51-77.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127169. 3 interactions.
STRING9606.ENSP00000355559.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSiteQ8NCR0.

Polymorphism databases

DMDM74751196.

Proteomic databases

MaxQBQ8NCR0.
PaxDbQ8NCR0.
PRIDEQ8NCR0.

Protocols and materials databases

DNASU148789.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000313984; ENSP00000315678; ENSG00000162885. [Q8NCR0-2]
ENST00000366600; ENSP00000355559; ENSG00000162885. [Q8NCR0-1]
GeneID148789.
KEGGhsa:148789.
UCSCuc001hxc.3. human. [Q8NCR0-1]
uc001hxd.2. human. [Q8NCR0-2]

Organism-specific databases

CTD148789.
GeneCardsGC01M235613.
HGNCHGNC:28596. B3GALNT2.
HPAHPA012502.
MIM610194. gene.
615181. phenotype.
neXtProtNX_Q8NCR0.
Orphanet588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBPA142672567.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG274138.
HOGENOMHOG000293391.
HOVERGENHBG080884.
KOK09654.
OMAFYRWTVE.
OrthoDBEOG7PK8Z9.
PhylomeDBQ8NCR0.
TreeFamTF314311.

Enzyme and pathway databases

SABIO-RKQ8NCR0.
UniPathwayUPA00378.

Gene expression databases

BgeeQ8NCR0.
CleanExHS_B3GALNT2.
GenevestigatorQ8NCR0.

Family and domain databases

InterProIPR002659. Glyco_trans_31.
[Graphical view]
PANTHERPTHR11214. PTHR11214. 1 hit.
PfamPF01762. Galactosyl_T. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi148789.
NextBio86001.
PROQ8NCR0.
SOURCESearch...

Entry information

Entry nameB3GL2_HUMAN
AccessionPrimary (citable) accession number: Q8NCR0
Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM