Gene: AP3B1

Alternate names for this Gene: ADTB3|ADTB3A|HPS|HPS2|PE

Gene Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: adaptor related protein complex 3 subunit beta 1

Type of Gene: protein-coding

rs73132886 in AP3B1 gene and Asthma PMID 25918132 2015 Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.

rs1978427 in AP3B1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs252749 in AP3B1 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12513481 in AP3B1 gene and Forced expiratory volume function PMID 30061609 2018 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs121908904 in AP3B1 gene and HERMANSKY-PUDLAK SYNDROME 2 PMID 10024875 1999 Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

rs12513481 in AP3B1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs10054454 in AP3B1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs35611929 in AP3B1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs10065892 in AP3B1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10065892 in AP3B1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12513481 in AP3B1 gene and Vital capacity PMID 30061609 2018 Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72776445 in AP3B1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.