Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GLI2 Gene

Aliases for GLI2 Gene

  • GLI Family Zinc Finger 2 2 3 5
  • 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
  • Zinc Finger Protein GLI2 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 Culler-Jones Syndrome and Holoprosencephaly 9. Among its related pathways are Hedgehog Pathway and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is GLI3.

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

Additional gene information for GLI2 Gene

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

Genomics for GLI2 Gene

Regulatory Elements for GLI2 Gene

Enhancers for GLI2 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
GH02H120866 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +131.7 131698 3 FOSL1 POLR2A MNT FOS GLI2 ENSG00000271709 PIR37537
GH02H120910 1.4 Ensembl ENCODE dbSUPER 16.4 +177.9 177889 6 HDAC1 HDGF PKNOX1 KLF17 SIN3A RAD21 BRCA1 EGR1 FOS EGR2 GLI2 ENSG00000271709 ENSG00000201584 GC02M121041
GH02H120861 1.1 Ensembl ENCODE 16.8 +127.4 127360 2 HDAC1 PKNOX1 ATF1 FOS CEBPB ELF1 SMARCB1 ZNF592 SMARCA4 MYNN GLI2 ENSG00000271709 PIR37537
GH02H120251 1.6 FANTOM5 ENCODE dbSUPER 10.4 -482.4 -482402 3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 CBX5 ZNF143 RALB C2orf76 GLI2 MTND4P26 TMEM185B LOC105373583 PIR31138
GH02H120372 0.8 ENCODE 20.6 -361.9 -361902 1 HDGF ARNT NFRKB YBX1 PLRG1 ZBTB40 TCF12 ZNF207 ZNF114 ZNF662 GLI2 MTCO3P43 GC02M120375 INHBB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GLI2 on UCSC Golden Path with GeneCards custom track

Promoters for GLI2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122543 977 2401 RB1 ZNF76 SIN3A FEZF1 RAD21 GLIS2 ZNF366 RCOR1 TSHZ1 ZNF398

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

Genes around GLI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

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.
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.
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.

Phenotypes From GWAS Catalog for GLI2 Gene

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 IEA --
GO:0003677 DNA binding IEA --
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

Human Phenotype Ontology for GLI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLI2 Gene

MGI Knock Outs for GLI2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GLI2
  • Applied Biological Materials Clones for GLI2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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. Cell projection, cilium. 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GLI2 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GLI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 26565916
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
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

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 IEA --
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

(3) Drugs for GLI2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GANT 58 Pharma GLI antagonist,novel and potent 0
GANT61 Pharma GLI antagonist, GLI antagonist; inhibits Hedgehog (Hh) signaling 0

(2) ApexBio Compounds for GLI2 Gene

Compound Action Cas Number
GANT 58 GLI antagonist,novel and potent 64048-12-0
GANT61 GLI antagonist 500579-04-4
genes like me logo Genes that share compounds with GLI2: view

Drug Products

Transcripts for GLI2 Gene

Unigene Clusters for GLI2 Gene

GLI family zinc finger 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GLI2
  • Applied Biological Materials Clones for GLI2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for GLI2 Gene



Protein tissue co-expression partners for GLI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GLI2 Gene:

GLI2

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.

Evidence on tissue expression from TISSUES for GLI2 Gene

  • Skin(2.5)
  • Nervous system(2.4)
  • Liver(2)
  • Lung(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
Thorax:
  • breast
  • esophagus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with GLI2: view

Primer 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 34 33
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GLI2 33 34
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia GLI2 33 34
  • 86.07 (n)
rat
(Rattus norvegicus)
Mammalia Gli2 33
  • 82.72 (n)
mouse
(Mus musculus)
Mammalia Gli2 16 34 33
  • 82.61 (n)
oppossum
(Monodelphis domestica)
Mammalia GLI2 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GLI2 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLI2 33 34
  • 70.97 (n)
lizard
(Anolis carolinensis)
Reptilia GLI2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498653 33
  • 66.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xgli4 33
zebrafish
(Danio rerio)
Actinopterygii gli2a 34 33
  • 63.61 (n)
OneToMany
gli2b 34
  • 59 (a)
OneToMany
gli2 33
fruit fly
(Drosophila melanogaster)
Insecta ci 35 34
  • 74 (a)
CG3850 35
  • 55 (a)
lmd 35
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea tra-1 35
  • 58 (a)
ref-2 34
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for GLI2 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)
  • 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

Variants for GLI2 Gene

Sequence variations from dbSNP and Humsavar for GLI2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs114814747 Pathogenic, Culler-Jones syndrome (CJS) [MIM:615849] 120,990,472(+) ATGGC(A/C/G)ATCAC reference, missense
rs121917708 Pathogenic, Holoprosencephaly 9 (HPE9) [MIM:610829] 120,978,500(+) GCACG(C/G/T)GGGAG reference, missense
rs149140724 other, Culler-Jones syndrome (CJS) [MIM:615849] 120,989,968(+) GCTTC(A/G)TGGAG reference, missense
rs149800897 Culler-Jones syndrome (CJS) [MIM:615849] 120,984,610(+) CACAC(A/C/T)GCTGC reference, missense
rs767802807 Holoprosencephaly 9 (HPE9) [MIM:610829] 120,990,575(+) CCTGC(C/T)CTCCA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1168e212 CNV loss 25503493
dgv2012n106 CNV deletion 24896259
dgv2013n106 CNV deletion 24896259
dgv2227e59 CNV duplication 20981092
dgv727e199 CNV deletion 23128226
esv2067397 CNV deletion 18987734
esv2668284 CNV deletion 23128226
esv2720645 CNV deletion 23290073
esv2720646 CNV deletion 23290073
esv2720647 CNV deletion 23290073
esv2720648 CNV deletion 23290073
esv2740761 CNV deletion 23290073
esv28325 CNV gain 19812545
esv3592180 CNV gain 21293372
esv3592190 CNV gain 21293372
esv3592191 CNV loss 21293372
esv3592192 CNV loss 21293372
esv3592193 CNV loss 21293372
esv3893215 CNV gain 25118596
nsv1003954 CNV gain 25217958
nsv1005766 CNV gain 25217958
nsv1071616 CNV deletion 25765185
nsv1072023 CNV deletion 25765185
nsv1109285 CNV deletion 24896259
nsv1123376 CNV deletion 24896259
nsv1136306 CNV deletion 24896259
nsv1142968 CNV tandem duplication 24896259
nsv2897 CNV insertion 18451855
nsv474434 CNV novel sequence insertion 20440878
nsv582798 CNV loss 21841781
nsv834348 CNV gain 17160897
nsv834349 CNV loss 17160897
nsv834350 CNV loss 17160897

Variation tolerance for GLI2 Gene

Residual Variation Intolerance Score: 38.7% 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

Human Gene Mutation Database (HGMD)
GLI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLI2

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

Disorders for GLI2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
culler-jones syndrome
  • postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
holoprosencephaly 9
  • holoprosencephaly with microphthalmia and first branchial arch anomalies
gli2-related holoprosencephaly
  • holoprosencephaly 9
lobar holoprosencephaly
semilobar holoprosencephaly
- elite association - COSMIC cancer census association via MalaCards
Search GLI2 in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:23408573}. 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 (Journal of virology 1998) 2 3 4 22 60
  2. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. (PMID: 15994174) Roessler E … Muenke M (Human molecular genetics 2005) 3 4 22 60
  3. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. (PMID: 14581620) Roessler E … Muenke M (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 45 60
  4. 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 (Journal of virology 1993) 3 4 22 60
  5. The GLI-Kruppel family of human genes. (PMID: 2850480) Ruppert JM … Vogelstein B (Molecular and cellular biology 1988) 2 3 4 60

Products for GLI2 Gene

  • Addgene plasmids for GLI2

Sources for GLI2 Gene

Content
Loading form....