DISEASES

Disease-gene associations mined from literature

Literature associating GLIS2 and oculoauricular syndrome

GLIS2 [ENSP00000262366]

Neuronal Krueppel-like protein; Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity); Belongs to the GLI C2H2-type zinc-finger protein family.

Synonyms:  GLIS2,  GLIS2p,  hGLIS2,  Q9BZE0,  NKL ...

Linkouts:  STRING  Pharos  UniProt  OMIM