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    B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 148789, updated on 27-Nov-2024

    Summary

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    Official Symbol
    B3GALNT2provided by HGNC
    Official Full Name
    beta-1,3-N-acetylgalactosaminyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:28596
    See related
    Ensembl:ENSG00000162885 MIM:610194; AllianceGenome:HGNC:28596
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MDDGA11; B3GalNAc-T2
    Summary
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 6.9), esophagus (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See B3GALNT2 in Genome Data Viewer
    Location:
    1q42.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (235439796..235504452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (234835690..234900322, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (235610505..235667752, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235530449-235531162 Neighboring gene tubulin folding cofactor E Neighboring gene MPRA-validated peak773 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:235563413-235563946 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 Neighboring gene ribosomal protein S21 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235639769-235640268 Neighboring gene MPRA-validated peak774 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:235667854-235668530 Neighboring gene MT-CYB pseudogene 14 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 Neighboring gene MT-ND6 pseudogene 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Involvement of B3GALNT2 overexpression in the cell growth of breast cancer. Matsuo T, et al. Int J Oncol, 2014 Feb. PMID 24285400
    2. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. Hedberg C, et al. Eur J Hum Genet, 2014 May. PMID 24084573, Free PMC Article
    3. Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene. Wang P, et al. J Gene Med, 2022 May. PMID 35338537, Free PMC Article
    4. Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. Chen XY, et al. Chin Med J (Engl), 2020 Dec 7. PMID 33290285, Free PMC Article
    5. [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene]. Zeng L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2023 Jul 10. PMID 37368380

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Genetic analysis of a Chinese family affected with alpha-dystroglycanopathy due to variant of B3GALNT2 gene].
      Title: [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
    2. Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
      Title: Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.
    3. Novel mutations in B3GALNT2 gene causing alpha-dystroglycanopathy in Chinese patients.
      Title: Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.
    4. B3GALNT2 primarily transferred LDN to intracellular glycoproteins, thereby clearly delineating proteins that carry type-I or type-II LacdiNAcs
      Title: Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2.
    5. B3GALNT2 reduced expression of some metabolic enzymes and thus downregulated levels of secreted acetoacetate. This relieved the activity of MIF and enhanced macrophage recruitment to promote tumor growth.
      Title: Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity.
    6. Mutations in B3GALNT2 give rise to a novel muscular dystrophy-dystroglycanopathies syndrome presentation, characterized by intellectual disability and seizure, but without any apparent muscular involvement.
      Title: B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
    7. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
      Title: B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.
    8. B3GALNT2 overexpression is associated with breast cancer.
      Title: Involvement of B3GALNT2 overexpression in the cell growth of breast cancer.
    9. Results demonstrate a role for B3GALNT2 in the glycosylation of alpha-DG and show that B3GALNT2 mutations can cause dystroglycanopathy with muscle and brain involvement.
      Title: Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
    10. Although the GalNAcbeta1-3GlcNAcbeta1-R structure has not been reported in humans or other mammals, we have discovered a novel human glycosyltransferase producing this structure on N- and O-glycans.
      Title: A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
    MedGen: C3554638 OMIM: 615181 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC39558

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylgalactosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acetylgalactosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
    Names
    UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2
    beta-1,3-GalNAc-T2
    NP_001264084.1
    NP_689703.1
    XP_006711812.1
    XP_016855883.1
    XP_047302958.1
    XP_047302959.1
    XP_047302960.1
    XP_047302961.1
    XP_054187907.1
    XP_054187908.1
    XP_054187909.1
    XP_054187910.1
    XP_054187911.1
    XP_054187912.1
    XP_054190572.1
    XP_054190573.1
    XP_054190574.1
    XP_054190575.1
    XP_054190576.1
    XP_054190577.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033219.3 RefSeqGene

      Range
      5000..62262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277155.3 → NP_001264084.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 2

      See identical proteins and their annotated locations for NP_001264084.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region, and its transcription extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The encoded protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC016974, BC029564, FO393422
      Consensus CDS
      CCDS60453.1
      UniProtKB/Swiss-Prot
      Q8NCR0
      Related
      ENSP00000315678.3, ENST00000313984.3
      Conserved Domains (1) summary
      PLN03133
      Location:93 → 142
      PLN03133; beta-1,3-galactosyltransferase; Provisional

    2. NM_152490.5 → NP_689703.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform 1

      See identical proteins and their annotated locations for NP_689703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AB209046, AW513183, BC029564, BQ221255, FO393422
      Consensus CDS
      CCDS1606.1
      UniProtKB/Swiss-Prot
      Q59GR3, Q5TCI3, Q8NCR0, Q96AL7
      UniProtKB/TrEMBL
      A0A6Q8PEZ9
      Related
      ENSP00000355559.3, ENST00000366600.8
      Conserved Domains (2) summary
      PLN03133
      Location:52 → 101
      PLN03133; beta-1,3-galactosyltransferase; Provisional
      cl21608
      Location:307 → 457
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      235439796..235504452 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711749.4 → XP_006711812.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

      Conserved Domains (1) summary
      cl21608
      Location:307 → 457
      Galactosyl_T; Galactosyltransferase

    2. XM_017000394.2 → XP_016855883.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

      UniProtKB/TrEMBL
      A0A6Q8PGQ3
      Related
      ENSP00000502392.1, ENST00000676288.1

    3. XM_047447005.1 → XP_047302961.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_047447004.1 → XP_047302960.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    5. XM_047447002.1 → XP_047302958.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    6. XM_047447003.1 → XP_047302959.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040927.1 Reference GRCh38.p14 PATCHES

      Range
      83388..148044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331932.1 → XP_054187907.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

    2. XM_054331933.1 → XP_054187908.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

    3. XM_054331937.1 → XP_054187912.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_054331934.1 → XP_054187909.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    5. XM_054331936.1 → XP_054187911.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    6. XM_054331935.1 → XP_054187910.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      234835690..234900322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334597.1 → XP_054190572.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X1

    2. XM_054334598.1 → XP_054190573.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X2

    3. XM_054334602.1 → XP_054190577.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X6

    4. XM_054334599.1 → XP_054190574.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X3

    5. XM_054334601.1 → XP_054190576.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X5

    6. XM_054334600.1 → XP_054190575.1  UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCR0.1 GenPept UniProtKB/Swiss-Prot:Q8NCR0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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