Gene: DIAPH3

Alternate names for this Gene: AN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2

Gene Summary: This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q21.2

Description of this Gene: diaphanous related formin 3

Type of Gene: protein-coding

rs2322622 in DIAPH3 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.

rs73196173 in DIAPH3 gene and Coronary heart disease PMID 22319020 2012 A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex.

rs76065946 in DIAPH3 gene and Fatty acid measurement PMID 29514873 2018 Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient.

rs11840069 in DIAPH3 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.

rs2322622 in DIAPH3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs341504 in DIAPH3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.