Disease-gene associations mined from literature

Literature associating KANK2 and autosomal dominant woolly hair

KANK2 [ENSP00000468002]

KN motif and ankyrin repeat domain-containing protein 2; 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. 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. May be involved in promotion of cell proliferation (By similarity); Ankyrin repeat domain containing

Synonyms:  KANK2,  KANK2p,  hKANK2,  K7EL48,  K7ERU2 ...

Linkouts:  STRING  Pharos  UniProt