Description
Product Characteristics:
GLIS2 is a 524 amino acid protein that belongs to the GLI C2H2-type zinc-finger protein family. By recruiting the corepressors CtBP1 and HDAC3, GLIS2 represses the transcriptional activation mediated by a??-catenin in the Wnt pathway. GLIS2 can act either as a transcription repressor or as a transcription activator and may be involved in neuron differentiation. Mutations of GLIS2 may be associated with development of progressive chronic kidney disease with characteristics resembling nephronophthisis. GLIS2 contains five tandem Cys(2)-His(2) zinc finger motifs that exhibit the highest homology to those of members of the GLI and Zic subfamilies of Kr??ppel-like proteins. GLIS2 is expressed at high levels in kidney and at low levels in heart, lung and placenta.
Subcellular location: Cytoplasm, Nucleus
Synonyms: NPHP7, NKL, GLI kruppel family member 2, GLI similar 2, GLI-similar 2, GLIS 2, GLIS family zinc finger 2, glis2, GLIS2_HUMAN, Kruppel like zinc finger protein GLIS2, Neuronal Krueppel-like protein, Tax helper protein, THP, Zinc finger protein GLI2, Zinc finger protein GLIS2.
Target Information: This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]