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.
SWISS:
Q9BZE0
Gene ID:
84662
Database links:
Entrez Gene: 374023 Chicken
Entrez Gene: 84662 Human
Entrez Gene: 83396 Mouse
Entrez Gene: 302946 Rat
Omim: 608539 Human
SwissProt: Q9BZE0 Human
SwissProt: Q8R4X9 Mouse
SwissProt: Q8VDL9 Mouse
SwissProt: Q99MY6 Mouse
SwissProt: Q99P73 Mouse
Unigene: 592087 Human
Unigene: 134072 Mouse
| Picture |
Paraformaldehyde-fixed, paraffin embedded (mouse heart); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GLIS2) Polyclonal Antibody, Unconjugated (SL11566R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (GLIS2) Polyclonal Antibody, Unconjugated (SL11566R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
|
|
|
