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Gene

B3GLCT

beta 3-glucosyltransferase

Summary

Cytogenetic location
13q12.3
Coordinates
Chromosome 13: 31,199,975–31,332,276 (GRCh38)
Exons
15 exons across 132.3 kb
Protein
498 amino acids
Also known as
B3GTL, B3Glc-T
Previous symbols
B3GALTL
MANE Select transcript
ENST00000343307.5NM_194318.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Congenital Disorders of Glycosylation

      • Congenital Disorders of Glycosylation (CDG)

        One of 98 genes linked to it

        A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    How B3GLCT is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 13, with a bracket where B3GLCT sits. B3GLCT and 4 genes near it on chromosome 13, from 30,766,126 to 31,766,125.Chromosome 1313q12.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3430.8 Mb31 Mb31.2 Mb31.4 Mb31.6 MbMEDAG: 30,906,200–30,925,574, forward strandMEDAGTEX26: 30,932,639–30,982,522, forward strandTEX26HSPH1: 31,134,876–31,162,388, reverse strandHSPH1B3GLCT: 31,199,975–31,332,276, forward strandB3GLCTRXFP2: 31,739,526–31,803,389, forward strandRXFP2Diagram of B3GLCT: 15 exons on the forward strand of chromosome 13Exon 2: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 1: 31,199,975–31,200,154, 180 basesExon 2: 31,215,051–31,215,100, 50 basesExon 3: 31,222,952–31,222,991, 40 basesExon 4: 31,229,185–31,229,294, 110 basesExon 5: 31,247,023–31,247,099, 77 basesExon 6: 31,247,855–31,247,966, 112 basesExon 7: 31,260,946–31,261,082, 137 basesExon 8: 31,269,214–31,269,277, 64 basesExon 9: 31,274,509–31,274,628, 120 basesExon 10: 31,276,702–31,276,771, 70 basesExon 11: 31,284,648–31,284,761, 114 basesExon 12: 31,286,720–31,286,819, 100 basesExon 13: 31,317,566–31,317,685, 120 basesExon 14: 31,323,751–31,323,895, 145 basesExon 15: 31,329,501–31,332,276, 2,776 bases12468101214155′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 4.2 kb of the gene's 132.3 kb; 1,497 of those bases code for the protein.

    How a genome test reads B3GLCT

    12

    positions in B3GLCT where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 132.3 kb of B3GLCT, introns included, not only the 4.2 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). B3GLCT gene: beta 3-glucosyltransferase. Retrieved 17 October 2026, from https://dantelabs.com/genes/b3glct

    Vancouver

    Dante Labs. B3GLCT gene: beta 3-glucosyltransferase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/b3glct

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