background:
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 ∫-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 Krüppel-like proteins. GLIS2 is expressed at high levels in kidney and at low levels in heart, lung and placenta.
Function:
Can act either as a transcription repressor or as a transcription activator, depending on the cell context. Represses the transcriptional activation mediated by CTNNB1 in the Wnt pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation.
Subunit:
Interacts with CTBP1 and HDAC3 (By similarity). Interacts with CTNNB1 (By similarity). Interacts with SUFU (By similarity). Interacts with CTNND1.
Subcellular Location:
Nucleus speckle. Cytoplasm.
Tissue Specificity:
Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon.
Post-translational modifications:
SLCterminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase
DISEASE:
Defects in GLIS2 are the cause of nephronophthisis type 7 (NPHP7) [MIM:611498]. NPHP7 is an autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
Similarity:
Belongs to the GLI C2H2-type zinc-finger protein family.
Contains 5 C2H2-type zinc fingers.
Database links:
UniProtKB/Swiss-Prot: Q9BZE0.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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