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Aliases for GLIS2 Gene

Aliases for GLIS2 Gene

  • GLIS Family Zinc Finger 2 2 3 5
  • Neuronal Krueppel-Like Protein 3 4
  • Nephrocystin-7 2 3
  • GLI-Similar 2 3 4
  • NKL 3 4
  • Kruppel-Like Zinc Finger Protein GLIS2 3
  • Zinc Finger Protein GLIS2 3
  • NPHP7 3

External Ids for GLIS2 Gene

Previous GeneCards Identifiers for GLIS2 Gene

  • GC16P004405
  • GC16P004382
  • GC16P004304

Summaries for GLIS2 Gene

Entrez Gene Summary for GLIS2 Gene

  • 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]

GeneCards Summary for GLIS2 Gene

GLIS2 (GLIS Family Zinc Finger 2) is a Protein Coding gene. Diseases associated with GLIS2 include Nephronophthisis 7 and Acute Megakaryoblastic Leukemia Without Down Syndrome. GO annotations related to this gene include transcription regulatory region DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is GLI2.

UniProtKB/Swiss-Prot for GLIS2 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLIS2 Gene

Genomics for GLIS2 Gene

Regulatory Elements for GLIS2 Gene

Enhancers for GLIS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around GLIS2 on UCSC Golden Path with GeneCards custom track

Promoters for GLIS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GLIS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GLIS2 Gene

Chromosome:
16
Start:
4,314,761 bp from pter
End:
4,339,597 bp from pter
Size:
24,837 bases
Orientation:
Plus strand

Genomic View for GLIS2 Gene

Genes around GLIS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLIS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLIS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLIS2 Gene

Proteins for GLIS2 Gene

  • Protein details for GLIS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZE0-GLIS2_HUMAN
    Recommended name:
    Zinc finger protein GLIS2
    Protein Accession:
    Q9BZE0
    Secondary Accessions:
    • B3KX84

    Protein attributes for GLIS2 Gene

    Size:
    524 amino acids
    Molecular mass:
    55689 Da
    Quaternary structure:
    • Interacts with CTBP1 and HDAC3 (By similarity). Interacts with CTNNB1 (By similarity). Interacts with SUFU (By similarity). Interacts with CTNND1.

neXtProt entry for GLIS2 Gene

Post-translational modifications for GLIS2 Gene

  • C-terminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GLIS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GLIS2 Gene

Domains & Families for GLIS2 Gene

Gene Families for GLIS2 Gene

Protein Domains for GLIS2 Gene

Suggested Antigen Peptide Sequences for GLIS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZE0

UniProtKB/Swiss-Prot:

GLIS2_HUMAN :
  • The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding.
  • Belongs to the GLI C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with GLIS2: view

Function for GLIS2 Gene

Molecular function for GLIS2 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for GLIS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding ISS --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 17289029
GO:0044212 transcription regulatory region DNA binding ISS --
genes like me logo Genes that share ontologies with GLIS2: view
genes like me logo Genes that share phenotypes with GLIS2: view

Human Phenotype Ontology for GLIS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLIS2 Gene

MGI Knock Outs for GLIS2:

Animal Model Products

CRISPR Products

miRNA for GLIS2 Gene

miRTarBase miRNAs that target GLIS2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GLIS2 Gene

Localization for GLIS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLIS2 Gene

Nucleus speckle. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLIS2 Gene COMPARTMENTS Subcellular localization image for GLIS2 gene
Compartment Confidence
nucleus 5
cytosol 1
lysosome 1
peroxisome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for GLIS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck ISS --
GO:0031513 nonmotile primary cilium IEA --
genes like me logo Genes that share ontologies with GLIS2: view

Pathways & Interactions for GLIS2 Gene

SuperPathways for GLIS2 Gene

No Data Available

SIGNOR curated interactions for GLIS2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GLIS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001822 kidney development IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GLIS2: view

No data available for Pathways by source for GLIS2 Gene

Drugs & Compounds for GLIS2 Gene

No Compound Related Data Available

Transcripts for GLIS2 Gene

mRNA/cDNA for GLIS2 Gene

Unigene Clusters for GLIS2 Gene

GLIS family zinc finger 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLIS2 Gene

No ASD Table

Relevant External Links for GLIS2 Gene

GeneLoc Exon Structure for
GLIS2
ECgene alternative splicing isoforms for
GLIS2

Expression for GLIS2 Gene

mRNA expression in normal human tissues for GLIS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLIS2 Gene

This gene is overexpressed in Plasma (45.6) and Heart (20.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GLIS2 Gene



Protein tissue co-expression partners for GLIS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GLIS2 Gene:

GLIS2

SOURCE GeneReport for Unigene cluster for GLIS2 Gene:

Hs.592087

mRNA Expression by UniProt/SwissProt for GLIS2 Gene:

Q9BZE0-GLIS2_HUMAN
Tissue specificity: Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon.
genes like me logo Genes that share expression patterns with GLIS2: view

Primer Products

No data available for mRNA differential expression in normal tissues for GLIS2 Gene

Orthologs for GLIS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GLIS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLIS2 34
  • 90.39 (n)
  • 94.85 (a)
GLIS2 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLIS2 34
  • 92.05 (n)
  • 96.37 (a)
GLIS2 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Glis2 34
  • 87.33 (n)
  • 92.9 (a)
Glis2 16
Glis2 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLIS2 34
  • 99.24 (n)
  • 100 (a)
GLIS2 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Glis2 34
  • 87.84 (n)
  • 93.47 (a)
oppossum
(Monodelphis domestica)
Mammalia GLIS2 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLIS2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia glis2 34
  • 65.65 (n)
  • 67.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia NKL 34
zebrafish
(Danio rerio)
Actinopterygii Dr.11559 34
LOC568488 34
  • 60.88 (n)
  • 57.2 (a)
GLIS2 (2 of 2) 35
  • 56 (a)
OneToMany
OTTDARG00000032278 35
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3850 36
  • 58 (a)
lmd 36
  • 54 (a)
sug 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tra-1 36
  • 54 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIM101 37
Species where no ortholog for GLIS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GLIS2 Gene

ENSEMBL:
Gene Tree for GLIS2 (if available)
TreeFam:
Gene Tree for GLIS2 (if available)

Paralogs for GLIS2 Gene

(2) SIMAP similar genes for GLIS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GLIS2: view

Variants for GLIS2 Gene

Sequence variations from dbSNP and Humsavar for GLIS2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs8057701 - 4,337,423(+) TGTCC(A/G)CGGGC reference, missense
rs3747572 -- 4,335,731(+) TTGTC(A/G)GAGCC intron-variant
rs3810817 -- 4,337,260(-) CCAGC(G/T)GCGCC reference, synonymous-codon
rs3848371 -- 4,321,525(+) CTAAG(A/G)TGAGT intron-variant
rs3888627 -- 4,322,581(+) TCCAT(G/T)AGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLIS2 Gene

Variant ID Type Subtype PubMed ID
esv3584924 CNV gain 24956385
nsv1046986 CNV gain 25217958
nsv471075 CNV loss 18288195
nsv527866 CNV loss 19592680
nsv571274 CNV gain 21841781
nsv571282 CNV gain 21841781
nsv571300 CNV loss 21841781

Variation tolerance for GLIS2 Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.01; 68.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLIS2 Gene

Human Gene Mutation Database (HGMD)
GLIS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLIS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLIS2 Gene

Disorders for GLIS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GLIS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephronophthisis 7
  • nphp7
acute megakaryoblastic leukemia without down syndrome
  • non-ds-amkl
nephronophthisis
  • medullary cystic disease
nephronophthisis 4
  • juvenile nephronophthisis
oculoauricular syndrome
  • oculoauricular syndrome, schorderet type
- elite association - COSMIC cancer census association via MalaCards
Search GLIS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLIS2_HUMAN
  • 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:0000269 PubMed:17618285}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLIS2

Human Genome Epidemiology (HuGE) Navigator
GLIS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLIS2
genes like me logo Genes that share disorders with GLIS2: view

No data available for Genatlas for GLIS2 Gene

Publications for GLIS2 Gene

  1. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. (PMID: 17618285) Attanasio M. … Treier M. (Nat. Genet. 2007) 2 3 4 65
  2. Genomic structure of the gene encoding the human GLI-related, Kruppel-like zinc finger protein GLIS2. (PMID: 11738817) Zhang F. … Jetten A.M. (Gene 2001) 3 4 22 65
  3. The Kruppel-like zinc finger protein Glis2 functions as a negative modulator of the Wnt/beta-catenin signaling pathway. (PMID: 17289029) Kim Y.-S. … Jetten A.M. (FEBS Lett. 2007) 3 4 65
  4. The transcriptional repressor Glis2 is a novel binding partner for p120 catenin. (PMID: 17344476) Hosking C.R. … Fujita Y. (Mol. Biol. Cell 2007) 3 4 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for GLIS2 Gene

Sources for GLIS2 Gene

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