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Aliases for GLI2 Gene

Aliases for GLI2 Gene

  • GLI Family Zinc Finger 2 2 3
  • Glioma-Associated Oncogene Family Zinc Finger 2 2 3
  • Tax-Responsive Element-2 Holding Protein 2 3
  • GLI Family Zinc Finger Protein 2 3 4
  • GLI-Kruppel Family Member GLI2 2 3
  • Tax Helper Protein 1 2 3
  • Tax Helper Protein 2 2 3
  • Tax-Responsive Element-25-Bp Sequence Binding Protein 3
  • Tax Helper Protein 4
  • Oncogene GLI2 3
  • HPE9 3
  • PHS2 3
  • THP1 3
  • THP2 3
  • CJS 3
  • THP 4

External Ids for GLI2 Gene

Previous GeneCards Identifiers for GLI2 Gene

  • GC02P118754
  • GC02P119470
  • GC02P121456
  • GC02P121645
  • GC02P121266
  • GC02P113876
  • GC02P121495

Summaries for GLI2 Gene

Entrez Gene Summary for GLI2 Gene

  • This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

GeneCards Summary for GLI2 Gene

GLI2 (GLI Family Zinc Finger 2) is a Protein Coding gene. Diseases associated with GLI2 include gli2-related holoprosencephaly and holoprosencephaly-9. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is ZIC4.

UniProtKB/Swiss-Prot for GLI2 Gene

  • Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).

  • Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5-GAACCACCCA-3 which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992).

  • Isoform 5: Acts as a transcriptional repressor.

Gene Wiki entry for GLI2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GLI2 Gene

Genomics for GLI2 Gene

Regulatory Elements for GLI2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GLI2 Gene

Chromosome:
2
Start:
120,735,623 bp from pter
End:
120,992,653 bp from pter
Size:
257,031 bases
Orientation:
Plus strand

Genomic View for GLI2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GLI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI2 Gene

Proteins for GLI2 Gene

  • Protein details for GLI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10070-GLI2_HUMAN
    Recommended name:
    Zinc finger protein GLI2
    Protein Accession:
    P10070
    Secondary Accessions:
    • O60252
    • O60253
    • O60254
    • O60255
    • Q15590
    • Q15591
    • Q4JHT4

    Protein attributes for GLI2 Gene

    Size:
    1586 amino acids
    Molecular mass:
    167783 Da
    Quaternary structure:
    • Interaction with ZIC1 and ZIC2 (By similarity). Interacts with STK36 (PubMed:10806483). Interacts with SUFU; this inhibits transcriptional activation mediated by GLI2 (PubMed:24311597).
    SequenceCaution:
    • Sequence=BAA03568.1; Type=Frameshift; Positions=754, 760; Evidence={ECO:0000305}; Sequence=BAA03569.1; Type=Frameshift; Positions=398, 410, 754, 760; Evidence={ECO:0000305}; Sequence=BAA25665.1; Type=Frameshift; Positions=398, 410; Evidence={ECO:0000305}; Sequence=BAA25667.1; Type=Frameshift; Positions=398, 410; Evidence={ECO:0000305};

    Alternative splice isoforms for GLI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GLI2 Gene

Proteomics data for GLI2 Gene at MOPED

Post-translational modifications for GLI2 Gene

  • Acetylation at Lys-757 inhibits Hh target gene expression, probably by impeding entry into chromatin thus preventing promoter occupancy.
  • Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes proteasomal degradation of GLI2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GLI2 (GLI2)

No data available for DME Specific Peptides for GLI2 Gene

Domains & Families for GLI2 Gene

Gene Families for GLI2 Gene

Protein Domains for GLI2 Gene

Suggested Antigen Peptide Sequences for GLI2 Gene

Graphical View of Domain Structure for InterPro Entry

P10070

UniProtKB/Swiss-Prot:

GLI2_HUMAN :
  • The N-terminal domain confers transcriptional repressor activity, while the C-terminal domain mediates transcriptional activation.
  • Belongs to the GLI C2H2-type zinc-finger protein family.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The N-terminal domain confers transcriptional repressor activity, while the C-terminal domain mediates transcriptional activation.
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 GLI2: view

Function for GLI2 Gene

Molecular function for GLI2 Gene

GENATLAS Biochemistry:
GLI-Kruppel family member GLI2,with homology to Drosophila segment polarity gene Cubitus interruptus,involved in the formation of lung,trachea and oesophagus
UniProtKB/Swiss-Prot Function:
Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).
UniProtKB/Swiss-Prot Function:
Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5-GAACCACCCA-3 which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992).
UniProtKB/Swiss-Prot Function:
Isoform 5: Acts as a transcriptional repressor.

Gene Ontology (GO) - Molecular Function for GLI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with GLI2: view
genes like me logo Genes that share phenotypes with GLI2: view

Animal Models for GLI2 Gene

MGI Knock Outs for GLI2:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLI2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GLI2 Gene

Localization for GLI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLI2 Gene

Nucleus. Cytoplasm. Note=STK36 promotes translocation to the nucleus. In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus. {ECO:0000250 UniProtKB:Q0VGT2}.
Isoform 1: Nucleus.
Isoform 2: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GLI2 Gene COMPARTMENTS Subcellular localization image for GLI2 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GLI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 9557682
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005929 cilium --
genes like me logo Genes that share ontologies with GLI2: view

Pathways & Interactions for GLI2 Gene

genes like me logo Genes that share pathways with GLI2: view

Pathways by source for GLI2 Gene

PCR Array Products

SIGNOR curated interactions for GLI2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GLI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 15994174
GO:0001501 skeletal system development ISS --
GO:0001649 osteoblast differentiation IDA 12165851
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development ISS --
genes like me logo Genes that share ontologies with GLI2: view

Drugs & Compounds for GLI2 Gene

(1) Drugs for GLI2 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 1404
genes like me logo Genes that share compounds with GLI2: view

Transcripts for GLI2 Gene

Unigene Clusters for GLI2 Gene

GLI family zinc finger 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GLI2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GLI2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - -
SP7: - -

Relevant External Links for GLI2 Gene

GeneLoc Exon Structure for
GLI2
ECgene alternative splicing isoforms for
GLI2

Expression for GLI2 Gene

mRNA expression in normal human tissues for GLI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GLI2 Gene

This gene is overexpressed in Ovary (x5.8).

Protein differential expression in normal tissues from HIPED for GLI2 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GLI2 Gene



SOURCE GeneReport for Unigene cluster for GLI2 Gene Hs.111867

mRNA Expression by UniProt/SwissProt for GLI2 Gene

P10070-GLI2_HUMAN
Tissue specificity: Isoform 1 and isoform 4 are expressed in HTLV-1-infected T-cell lines (at protein level). Isoform 1 and isoform 2 are strongly expressed in HTLV-1-infected T-cell lines. Isoform 3 and isoform 4 are weakly expressed in HTLV-1-infected T-cell lines.
genes like me logo Genes that share expression patterns with GLI2: view

Protein tissue co-expression partners for GLI2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for GLI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GLI2 35
  • 86.07 (n)
  • 86.37 (a)
GLI2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GLI2 35
  • 86.75 (n)
  • 85.32 (a)
GLI2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gli2 35
  • 82.61 (n)
  • 85.08 (a)
Gli2 16
Gli2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GLI2 35
  • 99.2 (n)
  • 99.43 (a)
GLI2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gli2 35
  • 82.72 (n)
  • 84.65 (a)
oppossum
(Monodelphis domestica)
Mammalia GLI2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLI2 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLI2 35
  • 70.97 (n)
  • 69.96 (a)
GLI2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLI2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498653 35
  • 66.9 (n)
  • 62.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xgli4 35
zebrafish
(Danio rerio)
Actinopterygii gli2 35
gli2a 35
  • 63.61 (n)
  • 62.1 (a)
gli2a 36
  • 59 (a)
OneToMany
gli2b 36
  • 59 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3850 37
  • 55 (a)
ci 37
  • 74 (a)
lmd 37
  • 45 (a)
ci 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tra-1 37
  • 58 (a)
ref-2 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for GLI2:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • 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 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 GLI2 Gene

ENSEMBL:
Gene Tree for GLI2 (if available)
TreeFam:
Gene Tree for GLI2 (if available)

Paralogs for GLI2 Gene

Paralogs for GLI2 Gene

genes like me logo Genes that share paralogs with GLI2: view

Variants for GLI2 Gene

Sequence variations from dbSNP and Humsavar for GLI2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs166746 -- 120,899,530(-) GCCTT(C/G)CGCAG intron-variant
rs169355 -- 120,900,225(-) AGAGC(A/C/G/T)GGAAG intron-variant
rs169430 -- 120,978,407(+) CTTAC(C/T)CTCTT intron-variant
rs277524 -- 120,913,181(+) AATTC(C/T)GAAGC intron-variant
rs277525 -- 120,912,822(+) AGCAA(C/T)CCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GLI2 Gene

Variant ID Type Subtype PubMed ID
nsv874972 CNV Loss 21882294
nsv834348 CNV Gain 17160897
nsv874973 CNV Gain 21882294
nsv834349 CNV Loss 17160897
dgv727e199 CNV Deletion 23128226
nsv2897 CNV Insertion 18451855
esv2067397 CNV Deletion 18987734
esv2720645 CNV Deletion 23290073
esv2740761 CNV Deletion 23290073
esv2668284 CNV Deletion 23128226
esv2720646 CNV Deletion 23290073
esv2720647 CNV Deletion 23290073
esv2720648 CNV Deletion 23290073
esv28325 CNV Gain 19812545
nsv834350 CNV Loss 17160897

Variation tolerance for GLI2 Gene

Residual Variation Intolerance Score: 38.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.53; 64.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GLI2 Gene

HapMap Linkage Disequilibrium report
GLI2
Human Gene Mutation Database (HGMD)
GLI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLI2 Gene

Disorders for GLI2 Gene

MalaCards: The human disease database

(36) MalaCards diseases for GLI2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

UniProtKB/Swiss-Prot

GLI2_HUMAN
  • Culler-Jones syndrome (CJS) [MIM:615849]: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia. {ECO:0000269 PubMed:15994174, ECO:0000269 PubMed:20685856}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Holoprosencephaly 9 (HPE9) [MIM:610829]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. {ECO:0000269 PubMed:14581620, ECO:0000269 PubMed:17096318, ECO:0000269 PubMed:20685856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GLI2

Genetic Association Database (GAD)
GLI2
Human Genome Epidemiology (HuGE) Navigator
GLI2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GLI2
genes like me logo Genes that share disorders with GLI2: view

No data available for Genatlas for GLI2 Gene

Publications for GLI2 Gene

  1. Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome. (PMID: 9557682) Tanimura A. … Yoshida M. (J. Virol. 1998) 2 23 67
  2. Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil. (PMID: 20104612) Richieri-Costa A. … Ribeiro L.A. (Am J Med Genet C Semin Med Genet 2010) 23 67
  3. Stereoselective protein binding of tetrahydropalmatine enantiomers in human plasma, HSA, and AGP, but not in rat plasma. (PMID: 19927376) Sun D.L. … Jiang H.D. (Chirality 2010) 23 67
  4. Hedgehog/Gli supports androgen signaling in androgen deprived and androgen independent prostate cancer cells. (PMID: 20420697) Chen M. … Buttyan R. (Mol. Cancer 2010) 23 67
  5. Involvement of PTCH1 mutations in the calcifying epithelial odontogenic tumor. (PMID: 20371205) Peacock Z.S. … Schmidt B.L. (Oral Oncol. 2010) 23 67

Products for GLI2 Gene

Sources for GLI2 Gene

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