KANK1, Official Symbol KANK1provided by HGNC Official Full Name KN motif and ankyrin repeat domains 1provided by HGNC Primary source HGNC:HGNC:19309 See related Ensembl:ENSG00000107104 MIM:607704; AllianceGenome:HGNC:19309 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KANK; CPSQ2; ANKRD15 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. [provided by RefSeq, Dec 2014] Expression Ubiquitous expression in esophagus (RPKM 11.7), heart (RPKM 11.6) and 24 other tissues See more Orthologs mouse all