DISEASES

Disease-gene associations mined from literature

Literature associating KANK2 and pure hair and nail ectodermal dysplasia

KANK2 [ENSP00000468002]

KN motif and ankyrin repeat domain-containing protein 2; Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 . Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria . Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis . Involved in the negative control of vitamin D receptor signaling pathway . 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 . Through the Rho signaling pathway may also regulate cell proliferation (By similarity). ECO:0000269|PubMed:17996375, ECO:0000269|PubMed:22371500,

Synonyms:  KANK2,  KANK2p,  hKANK2,  K7EIU4,  K7EL48 ...

Linkouts:  STRING  Pharos  UniProt