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Gene

GBA2

glucosylceramidase beta 2

Summary

Cytogenetic location
9p13.3
Coordinates
Chromosome 9: 35,736,866–35,749,228 (GRCh38)
Exons
17 exons across 12.4 kb
Protein
927 amino acids
Also known as
KIAA1605, AD035, DKFZp762K054
Previous symbols
SPG46
MANE Select transcript
ENST00000378103.7NM_020944.3
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

    • Hereditary Spastic Paraplegia

      • Hereditary Spastic Paraplegia (All Types)

        One of 66 genes linked to it

        Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

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

    How GBA2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where GBA2 sits. GBA2 and 31 genes near it on chromosome 9, from 35,243,047 to 36,243,046.Chromosome 99p13.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.335.4 Mb35.6 Mb35.8 Mb36 Mb36.2 MbUNC13B: 35,161,829–35,405,339, forward strandUNC13BRUSC2: 35,489,670–35,562,266, forward strandRUSC2CIMIP2B: 35,561,831–35,563,914, reverse strandCIMIP2BTESK1: 35,605,235–35,610,328, forward strandTESK1CD72: 35,609,965–35,646,810, reverse strandCD72SIT1: 35,649,288–35,650,970, reverse strandRMRP: 35,657,750–35,658,019, reverse strandRMRPCCDC107: 35,658,277–35,661,524, forward strandARHGEF39: 35,658,874–35,675,866, reverse strandARHGEF39CA9: 35,673,898–35,681,159, forward strandCA9TPM2: 35,681,992–35,691,116, reverse strandTPM2TLN1: 35,696,925–35,732,212, reverse strandCREB3: 35,732,296–35,738,887, forward strandCREB3GBA2: 35,736,866–35,749,228, reverse strandGBA2RGP1: 35,748,613–35,759,600, forward strandRGP1MSMP: 35,752,990–35,756,613, reverse strandMSMPNPR2: 35,791,003–35,809,732, forward strandNPR2SPAG8: 35,808,045–35,812,272, reverse strandSPAG8HINT2: 35,812,960–35,815,354, reverse strandHINT2: 35,812,960–35,828,732, reverse strandTMEM8B: 35,814,451–35,865,518, forward strandFAM221B: 35,816,391–35,828,747, reverse strandOR13J1: 35,869,463–35,870,401, reverse strandOR13J1HRCT1: 35,906,202–35,907,136, forward strandHRCT1SPAAR: 35,909,488–35,937,153, forward strandSPAAROR2S2: 35,957,108–35,958,154, reverse strandOR2S2OR13C7: 36,002,909–36,003,867, reverse strandOR13C7RECK: 36,036,896–36,124,457, forward strandRECKGLIPR2: 36,136,417–36,163,913, forward strandGLIPR2CCIN: 36,165,751–36,172,384, forward strandCCINCLTA: 36,190,856–36,304,781, forward strandCLTAGNE: 36,214,441–36,277,042, reverse strandGNEDiagram of GBA2: 17 exons on the reverse strand of chromosome 9Exon 17: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 13: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 1: 3 known disease-causing sitesExon 17: 35,736,866–35,737,447, 582 basesExon 16: 35,737,748–35,737,939, 192 basesExon 15: 35,738,037–35,738,152, 116 basesExon 14: 35,738,232–35,738,374, 143 basesExon 13: 35,738,526–35,738,632, 107 basesExon 12: 35,738,752–35,738,903, 152 basesExon 11: 35,739,002–35,739,109, 108 basesExon 10: 35,739,315–35,739,419, 105 basesExon 9: 35,739,628–35,739,800, 173 basesExon 8: 35,739,998–35,740,123, 126 basesExon 7: 35,740,209–35,740,362, 154 basesExon 6: 35,740,526–35,740,628, 103 basesExon 5: 35,740,825–35,741,064, 240 basesExon 4: 35,741,672–35,741,890, 219 basesExon 3: 35,744,297–35,744,412, 116 basesExon 2: 35,744,615–35,744,706, 92 basesExon 1: 35,748,346–35,749,228, 883 bases1716141210864215′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 3.6 kb of the gene's 12.4 kb; 2,784 of those bases code for the protein.

    How a genome test reads GBA2

    29

    positions in GBA2 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 12.4 kb of GBA2, introns included, not only the 3.6 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.). GBA2 gene: glucosylceramidase beta 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/gba2

    Vancouver

    Dante Labs. GBA2 gene: glucosylceramidase beta 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gba2

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