Aliases for KANK2 Gene
External Ids for KANK2 Gene
Previous HGNC Symbols for KANK2 Gene
Previous GeneCards Identifiers for KANK2 Gene
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. [provided by RefSeq, Jul 2016]
GeneCards Summary for KANK2 Gene
KANK2 (KN Motif And Ankyrin Repeat Domains 2) is a Protein Coding gene. Diseases associated with KANK2 include Palmoplantar Keratoderma And Woolly Hair and Nephrotic Syndrome, Type 16. An important paralog of this gene is KANK1.
UniProtKB/Swiss-Prot Summary for KANK2 Gene
Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 (PubMed:17476305). Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria (PubMed:22371500). Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis (PubMed:22371500). Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway (PubMed:17996375, PubMed:25961457). May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney (PubMed:25961457). Through the Rho signaling pathway may also regulate cell proliferation (By similarity).