Gene: ASAP1

Alternate names for this Gene: AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P

Gene Summary: This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.21-q24.22

Description of this Gene: ArfGAP with SH3 domain, ankyrin repeat and PH domain 1

Type of Gene: protein-coding

rs10091130 in ASAP1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1158570 in ASAP1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs78363913 in ASAP1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2045091 in ASAP1 gene and Progressive supranuclear palsy PMID 30089514 2018 Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases.

rs4733770 in ASAP1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs4733781 in ASAP1 gene and Tuberculosis PMID 25774636 2015 In the combined analysis of these subjects and the follow-up cohort (15,087 TB patients and controls altogether), we found an association between TB and variants located in introns of the ASAP1 gene on chromosome 8q24 (P = 2.6 × 10(-11) for rs4733781; P = 1.0 × 10(-10) for rs10956514).