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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] See more...
Aliases for B3GNT2 Gene
Aliases for B3GNT2 Gene
- UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2 2 3 4 5
- N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 2 3 4
- UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 1 2 3
- Beta3Gn-T1 3 4
- Beta3Gn-T2 3 4
- BETA3GNT 2 3
- B3GN-T2 2 3
- B3GNT-2 2 3
- B3GNT1 3 4
- BGnT-2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,3-Galactosyltransferase 7 4
- UDP-Gal:Beta-GlcNAc Beta-1,3-Galactosyltransferase 7 4
- Beta-1,3-N-Acetylglucosaminyltransferase BGnT-1 3
- Beta-1,3-N-Acetylglucosaminyltransferase BGnT-2 3
- Beta-1,3-N-Acetylglucosaminyltransferase 1 4
- Beta-1,3-N-Acetylglucosaminyltransferase 2 4
- Beta-1,3-Galactosyltransferase 7 4
External Ids for B3GNT2 Gene
- HGNC: 15629
- Entrez Gene: 10678
- Ensembl: ENSG00000170340
- OMIM: 605581
- UniProtKB: Q9NY97
Previous HGNC Symbols for B3GNT2 Gene
- B3GNT1
Previous GeneCards Identifiers for B3GNT2 Gene
- GC02P062276
- GC02P062423
Summaries for B3GNT2 Gene
-
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]
GeneCards Summary for B3GNT2 Gene
B3GNT2 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GNT2 include Muscular Dystrophy-Dystroglycanopathy , Type B, 6 and Congenital Muscular Dystrophy-Dystroglycanopathy Type A. Among its related pathways are Keratan sulfate/keratin metabolism 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.
UniProtKB/Swiss-Prot Summary for B3GNT2 Gene
-
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.
Additional gene information for B3GNT2 Gene
- HGNC(15629)
- Entrez Gene(10678)
- Ensembl(ENSG00000170340)
- OMIM(605581)
- UniProtKB(Q9NY97)
- Open Targets Platform(ENSG00000170340)
- Monarch Initiative
- Search for B3GNT2 at DataMed
- Search for B3GNT2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GNT2 Gene
Genomics for B3GNT2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B3GNT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B3GNT2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GNT2
- Top Transcription factor binding sites by QIAGEN in the B3GNT2 gene promoter:
-
- AML1a
- ATF-2
- Brachyury
- CREB
- En-1
- Nkx2-5
- Nkx5-1
- Pax-5
- Pbx1a
- STAT5A
Genomic Locations for B3GNT2 Gene
Genomic Locations for B3GNT2 Gene
- chr2:62,196,115-62,224,731
- (GRCh38/hg38)
- Size:
- 28,617 bases
- Orientation:
- Plus strand
- chr2:62,423,248-62,451,866
- (GRCh37/hg19)
- Size:
- 28,619 bases
- Orientation:
- Plus strand
Genomic View for B3GNT2 Gene
Genes around B3GNT2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2p15 by HGNC
- 2p15 by Entrez Gene
- 2p15 by Ensembl
B3GNT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B3GNT2 Gene
Proteins for B3GNT2 Gene
-
Protein details for B3GNT2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NY97-B3GN2_HUMAN
- Recommended name:
- N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2
- Protein Accession:
- Q9NY97
- Q54AC1
- Q9NQQ9
- Q9NQR0
- Q9NUT9
Protein attributes for B3GNT2 Gene
- Size:
- 397 amino acids
- Molecular mass:
- 46022 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Interacts with B3GNT8; this interaction greatly increases B3GNT2 catalytic activity, independently of B3GNT8 enzymatic activity.
- SequenceCaution:
-
- Sequence=BAA92031.1; Type=Erroneous initiation; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for B3GNT2 Gene
Post-translational modifications for B3GNT2 Gene
Other Protein References for B3GNT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-B3GNT2 (aa 111-211) polyclonal antibody
- Novus Biologicals Antibodies for B3GNT2
-
Abcam antibodies for B3GNT2
- Invitrogen Antibodies for B3GNT2 (AFLGC-B3GNT2)
-
Biorbyt antibodies for B3GNT2
-
Boster Bio Antibodies for B3GNT2
-
Santa Cruz Biotechnology (SCBT) Antibodies for B3GNT2
- Sino Biological Antibodies for B3GNT2
Protein Products
-
OriGene Purified Proteins for B3GNT2
- Search Origene for MassSpec and Protein Over-expression Lysates for B3GNT2
- Origene Custom Protein Services for B3GNT2
- Sino Biological Recombinant Proteins for B3GNT2
- Sino Biological Cell Lysates for B3GNT2
- ProSpec Recombinant Proteins for B3GNT2
-
Abcam proteins for B3GNT2
No data available for DME Specific Peptides for B3GNT2 Gene
Domains & Families for B3GNT2 Gene
Gene Families for B3GNT2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted membrane proteins
Protein Domains for B3GNT2 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 31
- ProtoNet:
Suggested Antigen Peptide Sequences for B3GNT2 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 7 (B3GN2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9NY97- Family:
-
- Belongs to the glycosyltransferase 31 family.
Function for B3GNT2 Gene
Molecular function for B3GNT2 Gene
- UniProtKB/Swiss-Prot Function:
- Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-glucosamine = an N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:14389, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:133507, ChEBI:CHEBI:134090; EC=2.4.1.149; Evidence={ECO:0000269|PubMed:11042166, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:9892646};.
Enzyme Numbers (IUBMB) for B3GNT2 Gene
Phenotypes From GWAS Catalog for B3GNT2 Gene
| 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:0008378 | galactosyltransferase activity | IEA | -- |
| GO:0008457 | beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity | IEA | -- |
Phenotypes for B3GNT2 Gene
- MGI mutant phenotypes for B3GNT2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for B3GNT2:
Animal Models for B3GNT2 Gene
- MGI Knock Outs for B3GNT2:
-
- B3gnt2 B3gnt2<tm1Dgen>
Animal Model Products
-
Taconic Biosciences Mouse Models for B3GNT2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B3GNT2 - Select products 50% OFF >
- * B3GNT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B3GNT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GNT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GNT2
miRNA for B3GNT2 Gene
- miRTarBase miRNAs that target B3GNT2
-
- hsa-miR-124-3p (MIRT022296)
- hsa-miR-1-3p (MIRT023499)
- hsa-miR-15a-5p (MIRT089105)
- hsa-miR-16-5p (MIRT089106)
- hsa-miR-95-5p (MIRT089107)
- hsa-miR-103a-3p (MIRT089108)
- hsa-miR-107 (MIRT089109)
- hsa-miR-15b-5p (MIRT089110)
- hsa-miR-195-5p (MIRT089111)
- hsa-miR-424-5p (MIRT089112)
- hsa-miR-497-5p (MIRT089113)
- hsa-miR-568 (MIRT089114)
- hsa-miR-643 (MIRT089115)
- hsa-miR-3607-5p (MIRT089116)
- hsa-miR-5583-3p (MIRT089117)
- hsa-miR-6792-5p (MIRT089118)
- hsa-miR-6838-5p (MIRT089119)
- hsa-miR-10a-3p (MIRT303046)
- hsa-miR-590-3p (MIRT303047)
- hsa-miR-888-5p (MIRT303048)
- hsa-miR-875-3p (MIRT303049)
- hsa-miR-1299 (MIRT303051)
- hsa-miR-6128 (MIRT303052)
- hsa-miR-2467-5p (MIRT481089)
- hsa-miR-4756-3p (MIRT481090)
- hsa-miR-3919 (MIRT481091)
- hsa-miR-4699-3p (MIRT481092)
- hsa-miR-6856-5p (MIRT481093)
- hsa-miR-6758-5p (MIRT481094)
- hsa-miR-24-3p (MIRT481095)
- hsa-miR-1248 (MIRT559273)
- hsa-miR-5706 (MIRT559274)
- hsa-miR-4782-5p (MIRT559275)
- hsa-miR-516b-5p (MIRT559276)
- hsa-miR-183-5p (MIRT559277)
- mmu-miR-539-3p (MIRT590550)
- mmu-miR-381-3p (MIRT590551)
- mmu-miR-466i-3p (MIRT590552)
- mmu-miR-297b-5p (MIRT590553)
- mmu-miR-297a-5p (MIRT590554)
- mmu-miR-297c-5p (MIRT590555)
- mmu-miR-669f-3p (MIRT590556)
- mmu-miR-467f (MIRT590557)
- mmu-miR-466f-3p (MIRT590558)
- mmu-miR-362-3p (MIRT590559)
- mmu-miR-329-3p (MIRT590560)
- mmu-miR-466c-3p (MIRT590561)
- mmu-miR-466b-3p (MIRT590562)
- mmu-miR-1b-5p (MIRT590563)
- mmu-miR-466p-3p (MIRT590564)
- mmu-miR-466o-3p (MIRT590565)
- mmu-miR-466m-3p (MIRT590566)
- mmu-miR-467g (MIRT590567)
- mmu-miR-466d-3p (MIRT590568)
- mmu-miR-297b-3p (MIRT590569)
- mmu-miR-466e-3p (MIRT590570)
- mmu-miR-466a-3p (MIRT590571)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B3GNT2
- Browse OriGene Inhibitory RNA Products For B3GNT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GNT2
Clone Products
- Applied Biological Materials (abm): Clones for B3GNT2 - Select products 50% OFF >
- * B3GNT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B3GNT2
- Addgene plasmids for B3GNT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GNT2
Cell Line Products
-
Horizon Cell Lines for B3GNT2
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GNT2 Gene
Localization for B3GNT2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B3GNT2 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| endoplasmic reticulum | 4 |
| extracellular | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| cytosol | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005783 | endoplasmic reticulum | IBA | -- |
| GO:0005794 | Golgi apparatus | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for B3GNT2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratan sulfate/keratin metabolism | ||
| 2 | Metabolism |
.40
|
|
| 3 | Glycosaminoglycan metabolism | ||
| 4 | Metabolism of proteins | ||
| 5 | O-linked glycosylation | ||
Pathways by source for B3GNT2 Gene
9 Reactome pathways for B3GNT2 Gene
3 KEGG pathways for B3GNT2 Gene
UniProtKB/Swiss-Prot Q9NY97-B3GN2_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B3GNT2 Gene
Selected Interacting proteins:
Q9NY97-B3GN2_HUMAN
ENSP00000305595
for B3GNT2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for B3GNT2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IBA | 21873635 |
| GO:0006493 | protein O-linked glycosylation | IBA | -- |
| GO:0007411 | axon guidance | IEA | -- |
| GO:0007608 | sensory perception of smell | IEA | -- |
| GO:0016266 | O-glycan processing | TAS | -- |
No data available for SIGNOR curated interactions for B3GNT2 Gene
Transcripts for B3GNT2 Gene
mRNA/cDNA for B3GNT2 Gene
- 4 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000301998 2761 nts (view in UCSC)
- ENST00000405767 2436 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B3GNT2 - Select products 50% OFF >
- * B3GNT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for B3GNT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GNT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GNT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B3GNT2
- Browse OriGene Inhibitory RNA Products For B3GNT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GNT2
Clone Products
- Applied Biological Materials (abm): Clones for B3GNT2 - Select products 50% OFF >
- * B3GNT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for B3GNT2
- Addgene plasmids for B3GNT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GNT2
Relevant External Links for B3GNT2 Gene
- GeneLoc Exon Structure for
- B3GNT2
Expression for B3GNT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Rod Bipolar Cells Inner Nuclear Layer
-
Neurons
- Mature Rod Bipolar Cells Inner Nuclear Layer
- Brain (Nervous System)
- Neural Tube (Nervous System)
This gene is overexpressed in Serum (47.4) and Plasma (15.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B3GNT2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GNT2
SOURCE GeneReport for Unigene cluster for B3GNT2 Gene:
Hs.173203mRNA Expression by UniProt/SwissProt for B3GNT2 Gene:
Q9NY97-B3GN2_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for B3GNT2 Gene
- Nervous system(4.3)
- Bone marrow(4)
Primer Products
-
OriGene qPCR primer pairs for B3GNT2
-
OriGene qPCR primer pairs and template standards for B3GNT2
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GNT2 Gene
Orthologs for B3GNT2 Gene
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 |
- Species where no ortholog for B3GNT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for B3GNT2 Gene
- ENSEMBL:
- Gene Tree for B3GNT2 (if available)
- TreeFam:
- Gene Tree for B3GNT2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B3GNT2: view image
Paralogs for B3GNT2 Gene
Paralogs for B3GNT2 Gene
(8) SIMAP similar genes for B3GNT2 Gene using alignment to 1 proteins:
- B3GN2_HUMAN
Pseudogenes.org Pseudogenes for B3GNT2 Gene
Variants for B3GNT2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GNT2 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709364 | Benign: not provided | 62,222,529(+) | G/A | SYNONYMOUS_VARIANT | |
| 730478 | Benign: not provided | 62,222,781(+) | A/G | SYNONYMOUS_VARIANT | |
| 767801 | Benign: not provided | 62,222,628(+) | T/A | MISSENSE_VARIANT | |
| 782402 | Benign: not provided | 62,222,628(+) | T/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1000005 | CNV | gain | 25217958 |
| nsv1143939 | CNV | deletion | 24896259 |
| nsv582123 | CNV | gain | 21841781 |
| nsv7313 | OTHER | inversion | 18451855 |
Residual Variation Intolerance Score:
36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.83;
17.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B3GNT2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B3GNT2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GNT2 Gene
Disorders for B3GNT2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy-dystroglycanopathy , type b, 6 |
|
|
| congenital muscular dystrophy-dystroglycanopathy type a |
|
|
| muscle tissue disease |
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| kidney fibrosarcoma |
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| congenital disorder of glycosylation, type iia |
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Search B3GNT2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for B3GNT2
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for B3GNT2 Gene
Publications for B3GNT2 Gene
- Identification and characterization of three novel beta 1,3-N-acetylglucosaminyltransferases structurally related to the beta 1,3-galactosyltransferase family. (PMID: 11042166) Shiraishi N … Sasaki K (The Journal of biological chemistry 2001) 2 3 4 23
- A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases. (PMID: 9892646) Zhou D … Hennet T (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
- B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. (PMID: 25279697) Praissman JL … Wells L (eLife 2014) 3 4
- Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PMID: 22446963) Okada Y … Yamamoto K (Nature genetics 2012) 3 41
- Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. (PMID: 20062062) Australo-Anglo-American Spondyloarthritis Consortium (TASC) … Brown MA (Nature genetics 2010) 3 41
ExternalLinks
Products for B3GNT2 Gene
- View all 3 R&D Systems B3GNT2 ("Beta-1,3-N-Acetylglucosaminyltransferase 2/B3GNT2") Products
- View all R&D Systems B3GNT2 ("Beta-1,3-N-Acetylglucosaminyltransferase 2/B3GNT2") Proteins and Enzymes
- View all 2 R&D Systems B3GNT2 ("Beta-1,3-N-Acetylglucosaminyltransferase 2/B3GNT2") Primary Antibodies
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- antibodies-online: Show 7 available B3GNT2 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for B3GNT2
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