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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
  • HPE9 3 6
  • Tax-Responsive Element-25-Bp Sequence Binding Protein 3
  • Zinc Finger Protein GLI2 3
  • Tax Helper Protein 4
  • Oncogene GLI2 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 culler-jones syndrome and holoprosencephaly-9. Among its related pathways are Pathways in cancer and Hippo signaling pathway. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is ZIC4.

UniProtKB/Swiss-Prot for GLI2 Gene

  • Has a dual function as a transcriptional activator and a repressor of the hedgehog (Hh) pathway. May play a role during embryogenesis.

  • 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. Are involved in the smoothened (SHH) signaling pathway.

  • 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

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 ZIC. Interacts with SUFU.
    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 for GLI2 Gene

Gene Families for GLI2 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

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 :
  • P10070
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: Has a dual function as a transcriptional activator and a repressor of the hedgehog (Hh) pathway. May play a role during embryogenesis.
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. Are involved in the smoothened (SHH) signaling pathway.
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:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 15994174
GO:0005515 protein binding IPI 12435627
GO:0008270 zinc ion binding IDA 8378770
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

CRISPR Products

miRNA for GLI2 Gene

miRTarBase miRNAs that target GLI2

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 Targeting and HOMER Transcription for GLI2 Gene

Localization for GLI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLI2 Gene

Nucleus. Cytoplasm. Note=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
cytoskeleton 1
extracellular 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 for GLI2 Gene

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

Pathways by source for GLI2 Gene

1 Qiagen pathway for GLI2 Gene
1 Cell Signaling Technology pathway for GLI2 Gene

PCR Array Products

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

Compounds for GLI2 Gene

(1) Novoseek inferred chemical compound relationships for GLI2 Gene

Compound -log(P) Hits PubMed IDs
zinc 46.7 8
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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (5.8).

Integrated Proteomics: protein expression 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 expressions with GLI2: view

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
chimpanzee
(Pan troglodytes)
Mammalia GLI2 35
  • 99.2 (n)
  • 99.43 (a)
GLI2 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia GLI2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLI2 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gli2 35
  • 82.72 (n)
  • 84.65 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xgli4 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498653 35
  • 66.9 (n)
  • 62.38 (a)
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 ci 36
  • 28 (a)
OneToMany
lmd 37
  • 45 (a)
ci 37
  • 74 (a)
CG3850 37
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea ref-2 36
  • 34 (a)
OneToMany
tra-1 37
  • 58 (a)
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

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

(1) OMIM Diseases for GLI2 Gene (165230)

UniProtKB/Swiss-Prot

GLI2_HUMAN
  • 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.
  • 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.

(8) Novoseek inferred disease relationships for GLI2 Gene

Disease -log(P) Hits PubMed IDs
leukemia t-cell 78.5 11
holoprosencephaly 73.3 1
carcinoma basal cell 67.7 5
skin tumor 27.5 2
hypoplasia 25.6 1

Relevant External Links for GLI2

GeneTests
GLI2
GeneReviews
GLI2
Genetic Association Database (GAD)
GLI2
Human Genome Epidemiology (HuGE) Navigator
GLI2
genes like me logo Genes that share disorders with GLI2: view

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 3 4 23
  2. A new regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins. (PMID: 8350401) Tanimura A. … Yoshida M. (J. Virol. 1993) 3 4 23
  3. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. (PMID: 15994174) Roessler E. … Muenke M. (Hum. Mol. Genet. 2005) 3 4 23
  4. The GLI-Kruppel family of human genes. (PMID: 2850480) Ruppert J.M. … Vogelstein B. (Mol. Cell. Biol. 1988) 2 3 4
  5. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. (PMID: 14581620) Roessler E. … Muenke M. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 48

Products for GLI2 Gene

  • Addgene plasmids for GLI2

Sources for GLI2 Gene

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