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Standards Ontologies Notations
Guidelines
MIRAGE
beta-1,3-N-acetylgalactosaminyltransferase 2

Summary
Gene Symbol
  • B3GALNT2
Aliases
  • MGC39558
Organism
Homo sapiens (human)
NCBI Gene
148789
GGDB ID
HGNC
28596
mRNA
map
  • 1q42.3
Protein
OMIM
KEGG Gene ID
hsa:148789
PubChem
148789
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital muscular dystrophy
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Lissencephaly
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8NCR0
  • Beta-1,3-N-acetylgalactosaminyltransferase II
Annotation information from UniProt.
Gene Ontology (GO)
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
galactosyltransferase
Functional Category
  • K: Transcription
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
hexosyltransferase activity
transferase activity
Displaying 1 entry
InterPro
Glycosyl transferase, family 31
GlycoGene Database (GGDB)
GGDB ID
gg103
Gene Symbol
  • B3GALNT2
Reactions
Displaying all 3 entries
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-GalNAc
G49108TO
R
G36387CV
R
UDP-GalNAc
G97041TX
MU
G82715NG
MU
UDP-GalNAc
G00033MO
Ser/Thr
G01707KB
Ser/Thr
Displaying entries 6 - 8 of 8 in total
Donor Acceptor Reducing terminal(Acceptor) Product Reducing terminal(Product) Reference
UDP-GalNAc
G42666HT
Bz
G37177QE
Bz
UDP-GalNAc
G00033MO
Ser/Thr
G01707KB
Ser/Thr
UDP-GalNAc
G00041MO
(core6)-pNP
G07570IW
(core6)-pNP
Displaying entries 1 - 5 of 19 in total
Donor Acceptor Reducing terminal(Acceptor) Reference
UDP-GalNAc
G57321FI
[alpha]-Bz
UDP-GalNAc
G93723GS
[beta]-pNP
UDP-GalNAc
G65889KE
[alpha]-pNP
UDP-GalNAc
G84224TW
Bz
UDP-GalNAc
G84088FO
pNP
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Mus musculus NP_848755 NM_178640
Rattus norvegicus XP_225436 XM_225436
KEGG BRITE Database
Orthology
K09654
Name
beta-1,3-N-acetylgalactosaminyltransferase 2 [EC:2.4.1.313]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07614
Rhea

RHEA:37667

UDP-N-acetyl-α-D-galactosamine
H+ + UDP
Enzyme
PMID
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0111230 congenital muscular dystrophy-dystroglycanopathy type A11
The Human Phenotype Ontology
Displaying entries 51 - 60 of 78 in total
HPO ID HPO Term
HP:0002350 Cerebellar cyst
HP:0002352 Leukoencephalopathy
HP:0002353 EEG abnormality
HP:0002365 Hypoplasia of the brainstem
HP:0002435 Meningocele
HP:0002536 Abnormal cortical gyration
HP:0003198 Myopathy
HP:0003202 Skeletal muscle atrophy
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003457 EMG abnormality
Displaying all 3 entries
Disease ID Disease Name
OMIM:615181
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
PubChem Disease
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 71 - 74 of 74 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
117018531 RHIFE03721
118284051 SCOMX08369
118882346 BALMU15703
122202834 PANLE03334
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025