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 16. An important paralog of this gene is KANK1.
UniProtKB/Swiss-Prot for KANK2 Gene
Involved in transcription regulation by sequestering nuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, in the cytoplasm; the function is deregulated by phosphorylation. Involved in the negative control of vitamin D receptor signaling pathway (PubMed:24671081). May be involved in the control of cytoskeleton formation by regulating actin polymerization. Involved in regulation of caspase-independent apoptosis; proposed to sequester AIFM1 in mitochondria and apoptotic stimuli lead to its proteasomal degradation allowing the release of AIFM1 to the nucleus (PubMed:22371500). May be involved in promotion of cell proliferation (By similarity).