InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GLIS2

Summary

InnateDB Protein

IDBP-367159.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GLIS2

Protein Name

GLIS family zinc finger 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000395547

InnateDB Gene

IDBG-12609 (GLIS2)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

Nucleus speckle {ECO:0000250}. Cytoplasm {ECO:0000250}.

Disease Associations

Nephronophthisis 7 (NPHP7) [MIM:611498]: 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. {ECO:0000269PubMed:17618285}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon. {ECO:0000269PubMed:11738817, ECO:0000269PubMed:17289029}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	22 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0005515	protein binding
GO:0044212	transcription regulatory region DNA binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006351	transcription, DNA-templated
GO:0007399	nervous system development
GO:0030154	cell differentiation
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045879	negative regulation of smoothened signaling pathway
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter