Gene: HPS5

Alternate names for this Gene: AIBP63|BLOC2S2

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.1

Description of this Gene: HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

Type of Gene: protein-coding

rs2124373 in HPS5 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11024616 in HPS5 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs2403254 in HPS5 gene and Glucose measurement PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.

rs1131692146 in HPS5 gene and HERMANSKY-PUDLAK SYNDROME 5 PMID 28640947 2017 Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

PMID 15296495 2004 Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

rs766602179 in HPS5 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs2124373 in HPS5 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2403254 in HPS5 gene and elevated blood glucose level PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.