Gene: AHNAK

Alternate names for this Gene: AHNAKRS|PM227

Gene Summary: The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: AHNAK nucleoprotein

Type of Gene: protein-coding

rs141218484 in AHNAK gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs11231111 in AHNAK gene and Body mass index procedure PMID 19584900 2010 Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

rs11231111 in AHNAK gene and Finding of body mass index PMID 19584900 2010 Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

rs2509961 in AHNAK gene and Forced expiratory volume function PMID 28166213 2017 Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

rs10897275 in AHNAK gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs2428548 in AHNAK gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.