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GLIS2 Gene

protein-coding   GIFtS: 50
GCID: GC16P004365

GLIS Family Zinc Finger 2

  See GLIS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GLIS Family Zinc Finger 21 2     NPHP72 5
nephrocystin-71 2     GLI-Similar Protein 22
Neuronal Krueppel-Like Protein2 3     Kruppel-Like Zinc Finger Protein GLIS22
NKL2 3     Zinc Finger Protein GLIS22
GLI-Similar 22 3     

External Ids:    HGNC: 294501   Entrez Gene: 846622   Ensembl: ENSG000001266037   OMIM: 6085395   UniProtKB: Q9BZE03   

Export aliases for GLIS2 gene to outside databases

Previous GC identifers: GC16P004405 GC16P004382 GC16P004304


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription and transcription regulatory region DNA binding. An important paralog of this gene is MTF1.

UniProtKB/Swiss-Prot: GLIS2_HUMAN, Q9BZE0
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NT_187608.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GLIS2 gene promoter:
         COUP-TF1   COUP-TF   COUP   E2F-2   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGLIS2 promoter sequence
   Search Chromatin IP Primers for GLIS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GLIS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

GLIS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GLIS2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P004365:  view genomic region     (about GC identifiers)

Start:
4,364,762 bp from pter      End:
4,389,598 bp from pter
Size:
24,837 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GLIS2_HUMAN, Q9BZE0 (See protein sequence)
Recommended Name: Zinc finger protein GLIS2  
Size: 524 amino acids; 55689 Da
Subunit: Interacts with CTBP1 and HDAC3 (By similarity). Interacts with CTNNB1 (By similarity). Interacts with
SUFU (By similarity). Interacts with CTNND1
Secondary accessions: B3KX84

Explore the universe of human proteins at neXtProt for GLIS2: NX_Q9BZE0

Explore proteomics data for GLIS2 at MOPED

Post-translational modifications: 

  • C-terminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GLIS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115964.2  
    ENSEMBL proteins: 
     ENSP00000262366   ENSP00000395547  

    GLIS2 Human Recombinant Protein Products:

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    Novus Biologicals GLIS2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GLIS2 

    GLIS2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for GLIS2 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for GLIS2
    LSBio Antibodies in human, mouse, rat for GLIS2

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    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GLIS2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q9BZE0

    ProtoNet protein and cluster: Q9BZE0

    UniProtKB/Swiss-Prot: GLIS2_HUMAN, Q9BZE0
    Domain: The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding (By
    similarity)
    Similarity: Belongs to the GLI C2H2-type zinc-finger protein family
    Similarity: Contains 5 C2H2-type zinc fingers


    Find genes that share domains with GLIS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GLIS2_HUMAN, Q9BZE0
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI17289029
    GO:0044212transcription regulatory region DNA binding ISS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with GLIS2           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Glis2):
     behavior/neurological  cellular  homeostasis/metabolism  immune system  mortality/aging 
     renal/urinary system 

    Find genes that share phenotypes with GLIS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Glis2tm1Amj for GLIS2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GLIS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GLIS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GLIS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GLIS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target GLIS2:
    hsa-mir-22-3p (MIRT050468)

    Block miRNA regulation of human, mouse, rat GLIS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GLIS2 (see all 48):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-3146 hsa-miR-429 hsa-miR-330-5p hsa-miR-765 hsa-miR-29a hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidGLIS2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GLIS2
    Predesigned siRNA for gene silencing in human, mouse, rat GLIS2

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GLIS2

    Clone
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    OriGene ORF clones in mouse, rat for GLIS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GLIS2 (NM_032575)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLIS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLIS2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLIS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GLIS2_HUMAN, Q9BZE0: Nucleus speckle (By similarity). Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm IEA--
    GO:0016607nuclear speck ISS--

    Find genes that share ontologies with GLIS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including GLIS2: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GLIS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for GLIS2 (Q9BZE01, 2, 3 ENSP000002623664) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CPSF1Q105702, 3, ENSP000003393534MINT-4651600 I2D: score=2 STRING: ENSP00000339353
    GPSM2P812742, 3, ENSP000002641264MINT-4651583 I2D: score=2 STRING: ENSP00000264126
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-7251368,EBI-491549 MINT-4651651 MINT-4651688 MINT-4651707 MINT-4651725 MINT-4651770 MINT-4651668 I2D: score=3 STRING: ENSP00000344456
    RBFOX2O432512, 3, ENSP000004130354MINT-4651634 I2D: score=2 STRING: ENSP00000413035
    SPECC1LQ69YQ02, 3, ENSP000003257854MINT-4651617 I2D: score=2 STRING: ENSP00000325785
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0007399nervous system development IEA--
    GO:0030154cell differentiation IEA--
    GO:0043433negative regulation of sequence-specific DNA binding transcription factor activity ISS--
    GO:0045879negative regulation of smoothened signaling pathway ISS--

    Find genes that share ontologies with GLIS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GLIS2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GLIS2 gene: 
    NM_032575.2  

    Unigene Cluster for GLIS2:

    GLIS family zinc finger 2
    Hs.592087  [show with all ESTs]
    Unigene Representative Sequence: AK126918
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262366(uc002cwc.1) ENST00000433375
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GLIS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GLIS2 (see all 48):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-3146 hsa-miR-429 hsa-miR-330-5p hsa-miR-765 hsa-miR-29a hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidGLIS2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GLIS2
    Predesigned siRNA for gene silencing in human, mouse, rat GLIS2
    Clone
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    OriGene clones in human, mouse for GLIS2 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GLIS2 (NM_032575)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GLIS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GLIS2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for GLIS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLIS2
      QuantiTect SYBR Green Assays in human, mouse, rat GLIS2
      QuantiFast Probe-based Assays in human, mouse, rat GLIS2

    Additional mRNA sequence: 

    AF325914.1 AK095566.1 AK096936.1 AK124985.1 AK126918.1 BC033763.1 

    4 DOTS entries:

    DT.101978531  DT.100651350  DT.95267761  DT.99974263 

    Selected AceView cDNA sequences (see all 105):

    AI206871 CD673569 AK126918 BQ693977 BM128159 BU622615 BM021288 BE780504 
    AW452966 BF516077 CD673568 AI831073 BF056609 AI362896 BQ773307 AK095566 
    AI474881 BM556436 AA991329 BQ446334 AW192155 BM128620 AK096936 BM980716 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GLIS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGAGGAAG
    GLIS2 Expression
    About this image


    GLIS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    GLIS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GLIS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592087

    UniProtKB/Swiss-Prot: GLIS2_HUMAN, Q9BZE0
    Tissue specificity: Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in
    colon

        Pathway & Disease-focused RT2 Profiler PCR Array including GLIS2: 
              Primary Cilia in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GLIS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GLIS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GLIS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GLIS2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Glis21 , 5 GLIS family zinc finger 21, 5 87.33(n)1
    92.9(a)1
      16 (2.45 cM)5
    833961  NM_031184.31  NP_112461.21 
     45947135 
    African clawed frog
    (Xenopus laevis)
    Amphibia NKL2 Gli-Kruppel zinc-finger protein NKL isoform a 77.35(n)    AF249341.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.115592 Transcribed sequence with weak similarity to protein more 77.09(n)    57093496 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG38503   -- 58(a)
    (best of 2)
      49E1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GLIS2 gene
    MTF12  ZIC32  ZNF4102  ZNF762  GLI12  ZIC22  ZIC12  GLI22  
    ZIC42  GLIS12  ZNF1432  GLIS32  ZIC52  GLI32  
    2 SIMAP similar genes for GLIS2 using alignment to 1 protein entry:     GLIS2_HUMAN:
    ZNF323    ZIC1

    Find genes that share paralogs with GLIS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GLIS2 (see all 270)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1916680681,2
    --4316068(+) ACAGCA/CTGGGA 1 -- us2k10--------
    rs1847875051,2
    --4316119(+) TCTACA/GTATTT 1 -- us2k10--------
    rs1492565831,2
    --4316136(+) TAACCA/GCCAGA 1 -- us2k10--------
    rs1438134011,2
    --4316310(+) TTCTCA/GGTTTG 1 -- us2k10--------
    rs1123246651,2
    C--4316338(+) GGTGGT/GGAGCG 1 -- us2k12Minor allele frequency- G:0.07NA 122
    rs1481760741,2
    --4316419(+) CAGGGC/TGGGAG 1 -- us2k10--------
    rs1429324831,2
    --4316428(+) AGTCCA/GGAGCA 1 -- us2k10--------
    rs1877214351,2
    --4316560(+) CAAAAC/GTGGCC 1 -- us2k10--------
    rs1923901921,2
    --4316582(+) CTCTGC/TAGCGC 1 -- us2k10--------
    rs1461131941,2
    --4316585(+) TGCAGC/TGCTGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GLIS2 (4364762 - 4389598 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GLIS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471075CNV Loss18288195
    dgv2586n71CNV Loss21882294
    nsv905222CNV Loss21882294
    dgv2585n71CNV Loss21882294
    nsv527866CNV Loss19592680
    nsv905224CNV Loss21882294
    nsv905223CNV Loss21882294

    Human Gene Mutation Database (HGMD): GLIS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GLIS2
    DNA2.0 Custom Variant and Variant Library Synthesis for GLIS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608539   
    OMIM disorders: 611498  
    UniProtKB/Swiss-Prot: GLIS2_HUMAN, Q9BZE0
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for GLIS2:    
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    nephronophthisis 7    acute megakaryoblastic leukemia without down syndrome    juvenile autosomal recessive medullary cystic kidney disease    kidney disease

    2 diseases from the University of Copenhagen DISEASES database for GLIS2:
    Nephronophthisis     Cystic kidney

    Find genes that share disorders with GLIS2           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: GLIS2 (1 document)

    Export disorders for GLIS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GLIS2 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with GLIS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. (PubMed id 17618285)1, 2, 3 Attanasio M....Treier M. (Nat. Genet. 2007)
    2. Genomic structure of the gene encoding the human GLI-related, Kruppel-like zinc finger protein GLIS2. (PubMed id 11738817)1, 2, 9 Zhang F. and Jetten A.M. (Gene 2001)
    3. The transcriptional repressor Glis2 is a novel binding partner for p120 catenin. (PubMed id 17344476)1, 2 Hosking C.R.... Fujita Y. (Mol. Biol. Cell 2007)
    4. The Kruppel-like zinc finger protein Glis2 functions as a negative modulator of the Wnt/beta-catenin signaling pathway. (PubMed id 17289029)1, 2 Kim Y.-S.... Jetten A.M. (FEBS Lett. 2007)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions. (PubMed id 14500813)1, 3 Kim Y.-S.... Jetten A.M. (Nucleic Acids Res. 2003)
    7. Characterization of Glis2, a novel gene encoding a Gli-related, KrA1ppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis. (PubMed id 11741991)1, 3 Zhang F....Jetten A.M. (J. Biol. Chem. 2002)
    8. Identification of NKL, a novel Gli-Kruppel zinc-finger protein that promotes neuronal differentiation. (PubMed id 11262234)1, 2 Lamar E.... Goulding M. (Development 2001)
    9. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. (PubMed id 23559409)1 Halbritter J....Otto E.A. (Hum. Genet. 2013)
    10. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. (PubMed id 23153540)1 Gruber T.A....Downing J.R. (Cancer Cell 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84662 HGNC: 29450 AceView: GLIS2 Ensembl:ENSG00000126603 euGenes: HUgn84662
    ECgene: GLIS2 H-InvDB: GLIS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GLIS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GLIS2 gene:
    Search GeneIP for patents involving GLIS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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