HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Gene ID: 11234, updated on 17-Sep-2024Gene type: protein coding
Also known as: AIBP63; BLOC2S2
- See all available tests in GTR for this gene
- Go to complete Gene record for HPS5
- Go to Variation Viewer for HPS5 variants
Summary
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. GeneReviews: Not available | |
| Hermansky-Pudlak syndrome 5 | See labs |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.1
- Sequence:
- Chromosome: 11; NC_000011.10 (18278670..18322174, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HPS5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HPS5 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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