Gene: ARL14EP

Alternate names for this Gene: ARF7EP|C11orf46|dJ299F11.1

Gene Summary: The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein.

Gene is located in Chromosome: 11

Location in Chromosome : 11p14.1

Description of this Gene: ADP ribosylation factor like GTPase 14 effector protein

Type of Gene: protein-coding

rs1765139 in ARL14EP gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs11031051 in ARL14EP gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

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