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

Summary
Gene Symbol
  • B3GALNT2
Aliases
  • MGC39558
Organism
Homo sapiens (human)
External Links
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.
GlycoGene Database (GGDB)
GGDB ID
gg103
Gene Symbol
  • B3GALNT2
Reactions
Displaying all 3 entries
Donor Acceptor Product Reference
UDP-GalNAc
G00033MO
G01707KB
UDP-GalNAc
G97041TX
G82715NG
UDP-GalNAc
G49108TO
G36387CV
Displaying all 6 entries
Donor Acceptor Product Reference
UDP-GalNAc
G00033MO
G01707KB
UDP-GalNAc
G00035MO
G18975PJ
UDP-GalNAc
G42666HT
G37177QE
UDP-GalNAc
G49108TO
G36387CV
UDP-GalNAc
G00041MO
G07570IW
UDP-GalNAc
G97041TX
G82715NG
Displaying entries 1 - 10 of 13 in total
Donor Acceptor Product Reference
UDP-GalNAc
G84224TW
UDP-GalNAc
G00059MO
UDP-GalNAc
G93723GS
UDP-GalNAc
G10400UC
UDP-GalNAc
G57321FI
UDP-GalNAc
G00031MO
UDP-GalNAc
G96881BQ
UDP-GalNAc
G16579HJ
UDP-GalNAc
G65889KE
UDP-GalNAc
G84088FO
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus XP_225436 XM_225436
Mus musculus NP_848755 NM_178640
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 entries 1 - 10 of 121 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:1595 melancholic depression
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050777 Joubert syndrome
DOID:0060255 rippling muscle disease 2
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
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 - 73 of 73 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
116440909 CORMO18383
103254834 CARSF26105
115613553 STRHB13601
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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: August 19, 2024