Gene: KANK2

Alternate names for this Gene: ANKRD25|MXRA3|NPHS16|PPKWH|SIP

Gene Summary: This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: KN motif and ankyrin repeat domains 2

Type of Gene: protein-coding

rs3185010 in KANK2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs74179972 in KANK2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17616661 in KANK2 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs387865 in KANK2 gene and Hypercholesterolemia, Familial PMID 22968135 2013 Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

rs1555816634 in KANK2 gene and NEPHROTIC SYNDROME, TYPE 16 PMID 25961457 2015 KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.

rs12972345 in KANK2 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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

rs12972345 in KANK2 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

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

rs12974711 in KANK2 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs138534124 in KANK2 gene and Serum total cholesterol measurement PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

rs12976810 in KANK2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.