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This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
B3GNT2 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GNT2 include Hydrophthalmos and Muscular Dystrophy-Dystroglycanopathy , Type B, 6. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT9.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 18826941 |
GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
GO:0008376 | acetylgalactosaminyltransferase activity | IBA | 21873635 |
GO:0008457 | beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity | IEA | -- |
GO:0008532 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | IEA,IDA | 9892646 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratan sulfate/keratin metabolism | ||
2 | Metabolism |
.40
|
|
3 | Glycosaminoglycan metabolism | ||
4 | Metabolism of proteins | ||
5 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IBA | 21873635 |
GO:0007411 | axon guidance | IEA | -- |
GO:0007608 | sensory perception of smell | IEA | -- |
GO:0016266 | O-glycan processing | TAS | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B3GNT2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B3GNT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B3GNT2 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | B3gnt2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B3gnt2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | B3GNT2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GNT2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | B3GNT2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | B3GNT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b3gnt2 30 |
|
||
Str.7170 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | b3gnt2b 30 31 |
|
OneToMany | |
b3gnt2a 31 |
|
OneToMany | |||
B3GNT2 (2 of 4) 31 |
|
OneToMany | |||
B3GNT2 (3 of 4) 31 |
|
OneToMany | |||
wufa55h04 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.163 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs148241288 | Benign: not provided | 62,222,781(+) |
A/G NM_006577.6(B3GNT2):c.561A>G (p.Pro187=) |
SYNONYMOUS | |
rs72893877 | Benign: not provided | 62,222,529(+) |
G/A NM_006577.6(B3GNT2):c.309G>A (p.Thr103=) |
SYNONYMOUS | |
rs78968142 | Benign: not provided. Benign: not provided | 62,222,628(+) |
T/AT/G NM_006577.6(B3GNT2):c.408T>A (p.Asp136Glu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1000005 | CNV | gain | 25217958 |
nsv1143939 | CNV | deletion | 24896259 |
nsv582123 | CNV | gain | 21841781 |
nsv7313 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hydrophthalmos |
|
|
muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
muscle tissue disease |
|
|
kidney fibrosarcoma |
|
|
congenital disorder of glycosylation, type iia |
|
|