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Gene

HPS5

HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Summary

Cytogenetic location
11p15.1
Coordinates
Chromosome 11: 18,278,676–18,322,140 (GRCh38)
Exons
23 exons across 43.5 kb
Protein
1,129 amino acids
Inheritance
Autosomal recessive
Also known as
BLOC2S2, AIBP63, RU2
MANE Select transcript
ENST00000349215.8NM_181507.2
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

  • Hermansky-Pudlak Syndrome

    • Autosomal recessive

      Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How HPS5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where HPS5 sits. HPS5 and 21 genes near it on chromosome 11, from 17,800,408 to 18,800,407.Chromosome 1111p15.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2518 Mb18.2 Mb18.4 Mb18.6 Mb18.8 MbKCNC1: 17,734,724–17,856,811, forward strandKCNC1SERGEF: 17,788,043–18,013,199, reverse strandSERGEFTPH1: 18,017,555–18,046,269, reverse strandTPH1SAAL1: 18,069,935–18,106,108, reverse strandSAAL1MRGPRX3: 18,120,955–18,138,488, forward strandMRGPRX3MRGPRX4: 18,172,837–18,174,280, forward strandMRGPRX4SAA4: 18,229,731–18,236,860, reverse strandSAA4SAA2-SAA4: 18,231,423–18,248,635, reverse strandSAA2-SAA4SAA2: 18,238,236–18,248,668, reverse strandSAA2SAA1: 18,266,118–18,271,130, forward strandSAA1HPS5: 18,278,676–18,322,140, reverse strandHPS5GTF2H1: 18,322,254–18,367,881, forward strandGTF2H1LDHA: 18,394,347–18,408,425, forward strandLDHALDHC: 18,412,286–18,452,069, forward strandLDHCLDHAL6A: 18,455,823–18,479,601, forward strandLDHAL6ATSG101: 18,468,336–18,526,965, reverse strandTSG101UEVLD: 18,529,607–18,588,747, reverse strandUEVLDMISFA: 18,588,781–18,610,255, forward strandMISFASPTY2D1: 18,606,399–18,634,791, reverse strandSPTY2D1TMEM86A: 18,693,122–18,705,736, forward strandTMEM86AIGSF22: 18,704,312–18,726,230, reverse strandIGSF22PTPN5: 18,727,928–18,792,721, reverse strandPTPN5Diagram of HPS5: 23 exons on the reverse strand of chromosome 11Exon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 23: 18,278,676–18,279,942, 1,267 basesExon 22: 18,281,950–18,282,220, 271 basesExon 21: 18,283,795–18,283,901, 107 basesExon 20: 18,285,346–18,285,459, 114 basesExon 19: 18,286,591–18,286,710, 120 basesExon 18: 18,287,535–18,287,690, 156 basesExon 17: 18,287,893–18,288,013, 121 basesExon 16: 18,291,442–18,292,019, 578 basesExon 15: 18,292,899–18,292,976, 78 basesExon 14: 18,295,020–18,295,169, 150 basesExon 13: 18,295,999–18,296,122, 124 basesExon 12: 18,296,798–18,296,984, 187 basesExon 11: 18,297,559–18,297,717, 159 basesExon 10: 18,298,792–18,298,970, 179 basesExon 9: 18,300,828–18,300,916, 89 basesExon 8: 18,305,422–18,305,493, 72 basesExon 7: 18,306,135–18,306,347, 213 basesExon 6: 18,308,946–18,309,079, 134 basesExon 5: 18,310,741–18,310,933, 193 basesExon 4: 18,311,387–18,311,451, 65 basesExon 3: 18,311,914–18,312,024, 111 basesExon 2: 18,317,751–18,317,907, 157 basesExon 1: 18,321,946–18,322,140, 195 bases2322201816141210864215′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 4.8 kb of the gene's 43.5 kb; 3,390 of those bases code for the protein.

How a genome test reads HPS5

28

positions in HPS5 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 43.5 kb of HPS5, introns included, not only the 4.8 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.). HPS5 gene: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/hps5

Vancouver

Dante Labs. HPS5 gene: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hps5

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