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Gene

VPS13B

vacuolar protein sorting 13 homolog B

Summary

Cytogenetic location
8q22.2
Coordinates
Chromosome 8: 99,013,274–99,877,580 (GRCh38)
Exons
62 exons across 864.3 kb
Protein
3,997 amino acids
Also known as
BLTP5B
Previous symbols
CHS1, COH1
MANE Select transcript
ENST00000357162.7NM_152564.5
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How VPS13B is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where VPS13B sits. VPS13B and 14 genes near it on chromosome 8, from 98,148,967 to 100,741,887.Chromosome 88q22.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.398.5 Mb99 Mb99.5 Mb100 Mb100.5 MbPOP1: 98,117,286–98,160,177, forward strandPOP1NIPAL2: 98,189,826–98,294,606, reverse strandNIPAL2STK3: 98,371,228–98,942,827, reverse strandSTK3KCNS2: 98,426,870–98,433,657, forward strandKCNS2OSR2: 98,940,116–98,952,336, forward strandOSR2VPS13B: 99,013,274–99,877,580, forward strandVPS13BCOX6C: 99,870,615–99,893,762, reverse strandCOX6CRGS22: 99,960,936–100,131,268, reverse strandRGS22FBXO43: 100,133,351–100,145,826, reverse strandFBXO43POLR2K: 100,150,610–100,154,005, forward strandPOLR2KSPAG1: 100,157,853–100,259,278, forward strandSPAG1RNF19A: 100,234,202–100,336,218, reverse strandRNF19AANKRD46: 100,509,752–100,559,789, reverse strandANKRD46SNX31: 100,572,882–100,663,415, reverse strandSNX31PABPC1: 100,685,816–100,722,809, reverse strandPABPC1Diagram of VPS13B: 62 exons on the forward strand of chromosome 8Exon 2: 12 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 7: 8 known disease-causing sitesExon 8: 18 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 11 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 13: 13 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 16: 4 known disease-causing sitesExon 17: 12 known disease-causing sitesExon 18: 12 known disease-causing sitesExon 19: 7 known disease-causing sitesExon 20: 9 known disease-causing sitesExon 21: 12 known disease-causing sitesExon 22: 8 known disease-causing sitesExon 23: 19 known disease-causing sitesExon 24: 11 known disease-causing sitesExon 25: 5 known disease-causing sitesExon 26: 8 known disease-causing sitesExon 27: 5 known disease-causing sitesExon 29: 25 known disease-causing sitesExon 30: 4 known disease-causing sitesExon 31: 12 known disease-causing sitesExon 32: 5 known disease-causing sitesExon 33: 8 known disease-causing sitesExon 34: 40 known disease-causing sitesExon 35: 9 known disease-causing sitesExon 36: 33 known disease-causing sitesExon 37: 13 known disease-causing sitesExon 38: 12 known disease-causing sitesExon 39: 7 known disease-causing sitesExon 40: 15 known disease-causing sitesExon 41: 5 known disease-causing sitesExon 42: 18 known disease-causing sitesExon 43: 6 known disease-causing sitesExon 44: 14 known disease-causing sitesExon 45: 15 known disease-causing sitesExon 46: 8 known disease-causing sitesExon 47: 10 known disease-causing sitesExon 48: 7 known disease-causing sitesExon 49: 9 known disease-causing sitesExon 50: 6 known disease-causing sitesExon 51: 8 known disease-causing sitesExon 52: 15 known disease-causing sitesExon 53: 8 known disease-causing sitesExon 54: 12 known disease-causing sitesExon 55: 6 known disease-causing sitesExon 56: 36 known disease-causing sitesExon 57: 10 known disease-causing sitesExon 58: 12 known disease-causing sitesExon 59: 11 known disease-causing sitesExon 60: 11 known disease-causing sitesExon 61: 22 known disease-causing sitesExon 62: 19 known disease-causing sitesExon 1: 99,013,274–99,013,347, 74 basesExon 2: 99,013,760–99,013,935, 176 basesExon 3: 99,038,423–99,038,566, 144 basesExon 4: 99,096,312–99,096,432, 121 basesExon 5: 99,102,953–99,103,120, 168 basesExon 6: 99,111,098–99,111,279, 182 basesExon 7: 99,115,700–99,115,874, 175 basesExon 8: 99,121,177–99,121,445, 269 basesExon 9: 99,134,632–99,134,727, 96 basesExon 10: 99,135,015–99,135,137, 123 basesExon 11: 99,135,596–99,135,733, 138 basesExon 12: 99,136,665–99,136,752, 88 basesExon 13: 99,142,974–99,143,165, 192 basesExon 14: 99,147,841–99,148,010, 170 basesExon 15: 99,156,549–99,156,743, 195 basesExon 16: 99,170,039–99,170,163, 125 basesExon 17: 99,192,876–99,193,057, 182 basesExon 18: 99,274,198–99,274,332, 135 basesExon 19: 99,275,081–99,275,254, 174 basesExon 20: 99,384,208–99,384,317, 110 basesExon 21: 99,391,557–99,391,704, 148 basesExon 22: 99,431,537–99,431,664, 128 basesExon 23: 99,442,401–99,442,635, 235 basesExon 24: 99,467,414–99,467,634, 221 basesExon 25: 99,481,599–99,481,802, 204 basesExon 26: 99,501,687–99,501,858, 172 basesExon 27: 99,502,836–99,502,950, 115 basesExon 28: 99,507,137–99,507,203, 67 basesExon 29: 99,511,104–99,511,512, 409 basesExon 30: 99,520,899–99,521,010, 112 basesExon 31: 99,556,450–99,556,653, 204 basesExon 32: 99,575,658–99,575,784, 127 basesExon 33: 99,577,490–99,577,633, 144 basesExon 34: 99,641,811–99,642,498, 688 basesExon 35: 99,661,354–99,661,491, 138 basesExon 36: 99,699,525–99,699,932, 408 basesExon 37: 99,717,171–99,717,373, 203 basesExon 38: 99,720,345–99,720,552, 208 basesExon 39: 99,720,863–99,721,047, 185 basesExon 40: 99,766,774–99,766,970, 197 basesExon 41: 99,776,775–99,776,956, 182 basesExon 42: 99,778,682–99,779,031, 350 basesExon 43: 99,784,315–99,784,476, 162 basesExon 44: 99,809,375–99,809,530, 156 basesExon 45: 99,817,540–99,817,803, 264 basesExon 46: 99,818,451–99,818,534, 84 basesExon 47: 99,818,713–99,818,888, 176 basesExon 48: 99,819,412–99,819,582, 171 basesExon 49: 99,819,921–99,820,122, 202 basesExon 50: 99,821,294–99,821,482, 189 basesExon 51: 99,823,832–99,823,978, 147 basesExon 52: 99,832,369–99,832,652, 284 basesExon 53: 99,835,197–99,835,324, 128 basesExon 54: 99,835,539–99,835,738, 200 basesExon 55: 99,848,776–99,848,894, 119 basesExon 56: 99,853,451–99,854,256, 806 basesExon 57: 99,859,304–99,859,480, 177 basesExon 58: 99,861,776–99,861,946, 171 basesExon 59: 99,868,289–99,868,465, 177 basesExon 60: 99,870,785–99,870,887, 103 basesExon 61: 99,871,448–99,871,697, 250 basesExon 62: 99,875,418–99,877,580, 2,163 bases12550625′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 14 kb of the gene's 864.3 kb; 11,994 of those bases code for the protein.

    How a genome test reads VPS13B

    828

    positions in VPS13B 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 864.3 kb of VPS13B, introns included, not only the 14 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.). VPS13B gene: vacuolar protein sorting 13 homolog B. Retrieved 17 October 2026, from https://dantelabs.com/genes/vps13b

    Vancouver

    Dante Labs. VPS13B gene: vacuolar protein sorting 13 homolog B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vps13b

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