Homo sapiens Gene: GLIS2
Summary
InnateDB Gene IDBG-12609.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GLIS2
Gene Name GLIS family zinc finger 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000126603
Encoded Proteins
GLIS family zinc finger 2
GLIS family zinc finger 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:4314761-4339597
Strand Forward strand
Band p13.3
Transcripts
ENST00000262366 ENSP00000262366
ENST00000433375 ENSP00000395547
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:0003677 DNA binding
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
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016607 nuclear speck
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.592087
RefSeq NM_032575 XM_005255641 XM_005255642 XM_006725240 XM_006725241
HUGO
OMIM
CCDS CCDS10511
HPRD 12256
IMGT
EMBL
GenPept
RNA Seq Atlas