Gene
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
- HGNC 15844(opens in a new tab)
- Ensembl gene ENSG00000100099(opens in a new tab)
- NCBI Gene 89781(opens in a new tab)
Summary
- Cytogenetic location
- 22q12.1
- Coordinates
- Chromosome 22: 26,450,882–26,483,783 (GRCh38)
- Exons
- 14 exons across 32.9 kb
- Protein
- 708 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA1667, LE, BLOC3S2
- MANE Select transcript
- ENST00000398145.7NM_022081.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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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 HPS4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 5.1 kb of the gene's 32.9 kb; 2,127 of those bases code for the protein.
How a genome test reads HPS4
56
positions in HPS4 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 32.9 kb of HPS4, introns included, not only the 5.1 kb of exons.
Traits linked to HPS4
The Human Phenotype Ontology lists these as features of the rare conditions HPS4 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). HPS4 gene: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/hps4
Dante Labs. HPS4 gene: HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hps4
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