Gene: KANK1

Alternate names for this Gene: ANKRD15|CPSQ2|KANK

Gene Summary: The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20.

Gene is located in Chromosome: 9

Location in Chromosome : 9p24.3

Description of this Gene: KN motif and ankyrin repeat domains 1

Type of Gene: protein-coding

rs9408674 in KANK1 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs9408674 in KANK1 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs9408674 in KANK1 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs10975385 in KANK1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1570477 in KANK1 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs10815355 in KANK1 gene and Fasting blood glucose measurement PMID 25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.

rs3824420 in KANK1 gene and Insulin measurement PMID 23263489 2013 Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.

rs12351209 in KANK1 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.

rs10815466 in KANK1 gene and Plexiform leiomyoma PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

rs10815466 in KANK1 gene and Uterine Fibroids PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.