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Aliases for B3GALNT2 Gene

Aliases for B3GALNT2 Gene

  • Beta-1,3-N-Acetylgalactosaminyltransferase 2 2 3 5
  • UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 2 2 3
  • Beta-1,3-GalNAc-T2 3 4
  • UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 2 3
  • Beta-1,3-N-Acetylgalactosaminyltransferase II 4
  • EC 2.4.1.313 4
  • B3GalNAc-T2 3
  • EC 2.4.1 58
  • MDDGA11 3

External Ids for B3GALNT2 Gene

Previous GeneCards Identifiers for B3GALNT2 Gene

  • GC01M231940
  • GC01M233679
  • GC01M235613
  • GC01M206062

Summaries for B3GALNT2 Gene

Entrez Gene Summary for B3GALNT2 Gene

  • This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

GeneCards Summary for B3GALNT2 Gene

B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GALNT2 include Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 11 and Muscle Eye Brain Disease. Among its related pathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. GO annotations related to this gene include galactosyltransferase activity and acetylgalactosaminyltransferase activity. An important paralog of this gene is B3GALT6.

UniProtKB/Swiss-Prot for B3GALNT2 Gene

  • 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.

Additional gene information for B3GALNT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALNT2 Gene

Genomics for B3GALNT2 Gene

Regulatory Elements for B3GALNT2 Gene

Enhancers for B3GALNT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H235502 1.8 FANTOM5 ENCODE dbSUPER 28.9 +0.2 193 4 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NFYC ARID4B B3GALNT2 RPS21P1 IRF2BP2 LYST LOC100130485 ENSG00000230404 TBCE GGPS1 LDHAP2
GH01H234598 2.2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +892.6 892635 26.9 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B RPS21P1 IRF2BP2 TBCE LOC102724100 LOC105373206 TARBP1 LINC01354 ENSG00000230404 B3GALNT2
GH01H234953 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +544.7 544693 12.8 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 NFYC MEF2D SSRP1 GLIS1 ARID4B RPS21P1 IRF2BP2 TBCE LOC101927851 B3GALNT2 ENSG00000228830 GGPS1 RBM34 LOC105373211
GH01H234714 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +782.9 782866 14.8 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B RPS21P1 IRF2BP2 TBCE LOC102724100 LOC105373206 GGPS1 ENSG00000230404 ENSG00000228830 B3GALNT2
GH01H234527 2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +967.0 966962 20.1 ZFP64 YBX1 FEZF1 YY1 SP3 NFYC MEF2D SSRP1 ZNF610 GLIS1 ARID4B TBCE RPS21P1 IRF2BP2 LINC01354 B3GALNT2 ENSG00000212144 GGPS1 LOC101927765 GC01M234541
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B3GALNT2 on UCSC Golden Path with GeneCards custom track

Promoters for B3GALNT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022262 -19 3401 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A

Genomic Locations for B3GALNT2 Gene

Genomic Locations for B3GALNT2 Gene
chr1:235,440,660-235,504,481
(GRCh38/hg38)
Size:
63,822 bases
Orientation:
Minus strand
chr1:235,610,533-235,667,781
(GRCh37/hg19)

Genomic View for B3GALNT2 Gene

Genes around B3GALNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALNT2 Gene

Proteins for B3GALNT2 Gene

  • Protein details for B3GALNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NCR0-B3GL2_HUMAN
    Recommended name:
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
    Protein Accession:
    Q8NCR0
    Secondary Accessions:
    • Q59GR3
    • Q5TCI3
    • Q96AL7

    Protein attributes for B3GALNT2 Gene

    Size:
    500 amino acids
    Molecular mass:
    56704 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16974.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GALNT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for B3GALNT2 Gene

Selected DME Specific Peptides for B3GALNT2 Gene

Q8NCR0:
  • SPAYPAFACGSGY
  • YKPVEQFILP
  • GKWQELEY

Post-translational modifications for B3GALNT2 Gene

Other Protein References for B3GALNT2 Gene

Domains & Families for B3GALNT2 Gene

Gene Families for B3GALNT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for B3GALNT2 Gene

Suggested Antigen Peptide Sequences for B3GALNT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NCR0

UniProtKB/Swiss-Prot:

B3GL2_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALNT2: view

Function for B3GALNT2 Gene

Molecular function for B3GALNT2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.4 uM for UDP-GalNAc {ECO:0000269 PubMed:14724282}; KM=11 mM for GlcNAc-beta-Bn {ECO:0000269 PubMed:14724282};
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-D-galactosamine + 3-O-(N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein] = UDP + 3-O-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl-[protein].
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for B3GALNT2 Gene

Phenotypes From GWAS Catalog for B3GALNT2 Gene

Gene Ontology (GO) - Molecular Function for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008375 acetylglucosaminyltransferase activity IDA 23929950
GO:0008376 acetylgalactosaminyltransferase activity TAS --
GO:0008378 galactosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GALNT2: view
genes like me logo Genes that share phenotypes with B3GALNT2: view

Human Phenotype Ontology for B3GALNT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for B3GALNT2 Gene

Localization for B3GALNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALNT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GALNT2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 4
plasma membrane 2
extracellular 2
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 23453667
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with B3GALNT2: view

Pathways & Interactions for B3GALNT2 Gene

genes like me logo Genes that share pathways with B3GALNT2: view

Pathways by source for B3GALNT2 Gene

UniProtKB/Swiss-Prot Q8NCR0-B3GL2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GALNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IMP 23453667
GO:0006493 protein O-linked glycosylation TAS --
genes like me logo Genes that share ontologies with B3GALNT2: view

No data available for SIGNOR curated interactions for B3GALNT2 Gene

Drugs & Compounds for B3GALNT2 Gene

No Compound Related Data Available

Transcripts for B3GALNT2 Gene

Unigene Clusters for B3GALNT2 Gene

Beta-1,3-N-acetylgalactosaminyltransferase 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7:

Relevant External Links for B3GALNT2 Gene

GeneLoc Exon Structure for
B3GALNT2
ECgene alternative splicing isoforms for
B3GALNT2

Expression for B3GALNT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GALNT2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B3GALNT2 Gene



Protein tissue co-expression partners for B3GALNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of B3GALNT2 Gene:

B3GALNT2

SOURCE GeneReport for Unigene cluster for B3GALNT2 Gene:

Hs.498143

mRNA Expression by UniProt/SwissProt for B3GALNT2 Gene:

Q8NCR0-B3GL2_HUMAN
Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary.

Evidence on tissue expression from TISSUES for B3GALNT2 Gene

  • Nervous system(4.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALNT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with B3GALNT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for B3GALNT2 Gene

Orthologs for B3GALNT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for B3GALNT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALNT2 33 34
  • 99.73 (n)
cow
(Bos Taurus)
Mammalia B3GALNT2 33 34
  • 89.6 (n)
dog
(Canis familiaris)
Mammalia B3GALNT2 33 34
  • 89.04 (n)
mouse
(Mus musculus)
Mammalia B3galnt2 33 16 34
  • 86.33 (n)
rat
(Rattus norvegicus)
Mammalia B3galnt2 33
  • 85.8 (n)
oppossum
(Monodelphis domestica)
Mammalia B3GALNT2 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALNT2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALNT2 33 34
  • 79.75 (n)
lizard
(Anolis carolinensis)
Reptilia B3GALNT2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3galnt2 33
  • 70.7 (n)
Str.18549 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18445 33
zebrafish
(Danio rerio)
Actinopterygii b3galnt2 33 34
  • 57.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta beta3GalTII 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sqv-2 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToMany
CSA.9319 34
  • 27 (a)
OneToMany
Species where no ortholog for B3GALNT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for B3GALNT2 Gene

ENSEMBL:
Gene Tree for B3GALNT2 (if available)
TreeFam:
Gene Tree for B3GALNT2 (if available)

Paralogs for B3GALNT2 Gene

Paralogs for B3GALNT2 Gene

Pseudogenes.org Pseudogenes for B3GALNT2 Gene

genes like me logo Genes that share paralogs with B3GALNT2: view

Variants for B3GALNT2 Gene

Sequence variations from dbSNP and Humsavar for B3GALNT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs367543072 other, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] 235,470,872(-) TGGAG(A/G)GGGAG nc-transcript-variant, reference, missense
rs367543073 other, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] 235,470,857(-) CAGAG(G/T)CATTA nc-transcript-variant, reference, missense
rs367543074 other, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] 235,465,675(-) AAGGT(A/G)TGGAG intron-variant, nc-transcript-variant, reference, missense
rs367543076 other, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] 235,458,753(-) TTCTC(A/C/G)CCCTC intron-variant, nc-transcript-variant, reference, missense
VAR_035860 A breast cancer sample

Structural Variations from Database of Genomic Variants (DGV) for B3GALNT2 Gene

Variant ID Type Subtype PubMed ID
nsv549393 CNV gain 21841781
nsv549392 CNV gain 21841781
nsv468406 CNV gain 19166990
nsv1013571 CNV gain 25217958
nsv1011288 CNV gain 25217958
esv3575794 CNV gain 25503493
esv2762178 CNV loss 21179565
dgv587n100 CNV gain 25217958
dgv586n100 CNV gain 25217958
dgv30n21 CNV gain 19592680

Variation tolerance for B3GALNT2 Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.52; 44.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B3GALNT2 Gene

Human Gene Mutation Database (HGMD)
B3GALNT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GALNT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALNT2 Gene

Disorders for B3GALNT2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for B3GALNT2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 11
muscle eye brain disease
  • meb
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
cobblestone lissencephaly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

B3GL2_HUMAN
  • 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. {ECO:0000269 PubMed:23453667}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for B3GALNT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GALNT2
genes like me logo Genes that share disorders with B3GALNT2: view

No data available for Genatlas for B3GALNT2 Gene

Publications for B3GALNT2 Gene

  1. A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. (PMID: 14724282) Hiruma T … Narimatsu H (The Journal of biological chemistry 2004) 2 3 4 60
  2. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PMID: 23929950) Yoshida-Moriguchi T … Campbell KP (Science (New York, N.Y.) 2013) 3 4 60
  3. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. (PMID: 23453667) Stevens E … Muntoni F (American journal of human genetics 2013) 3 4 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for B3GALNT2 Gene