This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role ... See more...

Aliases for GLI3 Gene

Aliases for GLI3 Gene

  • GLI Family Zinc Finger 3 2 3 5
  • Glioma-Associated Oncogene Family Zinc Finger 3 2 3
  • Transcriptional Activator GLI3 3 4
  • GLI-Kruppel Family Member GLI3 2 3
  • Zinc Finger Protein GLI3 2 3
  • Oncogene GLI3 2 3
  • GLI3-190 3 4
  • GLI3FL 3 4
  • Greig Cephalopolysyndactyly Syndrome 2
  • GLI3 Full-Length Protein 4
  • GLI3 Form Of 190 KDa 4
  • DNA-Binding Protein 2
  • PAP-A 3
  • PAPA1 3
  • PPDIV 3
  • ACLS 3
  • PAPA 3
  • PAPB 3
  • GCPS 3
  • PHS 3

External Ids for GLI3 Gene

Previous HGNC Symbols for GLI3 Gene

  • GCPS
  • PHS

Previous GeneCards Identifiers for GLI3 Gene

  • GC07M041650
  • GC07M041744
  • GC07M041776
  • GC07M041970
  • GC07M042000

Summaries for GLI3 Gene

Entrez Gene Summary for GLI3 Gene

  • This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]

GeneCards Summary for GLI3 Gene

GLI3 (GLI Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with GLI3 include Greig Cephalopolysyndactyly Syndrome and Polydactyly, Postaxial, Type A1. Among its related pathways are Hedgehog signaling events mediated by Gli proteins and Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is GLI2.

UniProtKB/Swiss-Prot Summary for GLI3 Gene

  • Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.

Gene Wiki entry for GLI3 Gene

Additional gene information for GLI3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GLI3 Gene

Genomics for GLI3 Gene

GeneHancer (GH) Regulatory Elements for GLI3 Gene

Promoters and enhancers for GLI3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J042263 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 508.2 +0.7 711 2.4 USF1 RFX1 FOS STAT3 CTCF ZNF366 SP7 USF2 MYC GLI3 piR-38756-023
GH07J042231 Promoter/Enhancer 2.3 UCNEbase Ensembl ENCODE CraniofacialAtlas dbSUPER 13.9 +28.7 28718 8.4 ZNF217 ZSCAN5C JUND FOS CTCF ZNF639 ZNF10 ZIC2 FOXA1 POLR2A GLI3 lnc-GLI3-2 lnc-INHBA-4
GH07J043112 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 12.4 -849.4 -849389 2.2 EP300 TEAD4 ZIC2 ZBTB10 ZNF423 ZBTB26 SAP30 KLF7 ZNF341 EZH2 ENSG00000232006 HECW1 AEBP1 GLI3 lnc-HECW1-1
GH07J042150 Promoter/Enhancer 2.2 VISTA UCNEbase FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.3 +110.4 110410 7 ZNF217 ZSCAN5C ZNF10 FOXA1 TRIM28 KLF7 ZNF341 OSR2 WT1 FOXA2 GLI3 lnc-INHBA-4 lnc-GLI3-2
GH07J042212 Enhancer 1.6 VISTA UCNEbase Ensembl ENCODE CraniofacialAtlas 12 +50.6 50611 3.8 TEAD4 ZNF316 MAFF FOS MAFK NANOG TCF12 EZH2 ZNF189 JUND GLI3 lnc-GLI3-2 lnc-INHBA-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GLI3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GLI3

Top Transcription factor binding sites by QIAGEN in the GLI3 gene promoter:
  • AhR
  • aMEF-2
  • Arnt
  • E47
  • Hlf
  • HOXA9
  • HOXA9B
  • MEF-2A
  • Meis-1
  • Tal-1beta

Genomic Locations for GLI3 Gene

Genomic Locations for GLI3 Gene
chr7:41,960,949-42,264,112
(GRCh38/hg38)
Size:
303,164 bases
Orientation:
Minus strand
chr7:42,000,547-42,277,469
(GRCh37/hg19)
Size:
276,923 bases
Orientation:
Minus strand

Genomic View for GLI3 Gene

Genes around GLI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GLI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GLI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GLI3 Gene

Proteins for GLI3 Gene

  • Protein details for GLI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10071-GLI3_HUMAN
    Recommended name:
    Transcriptional activator GLI3
    Protein Accession:
    P10071
    Secondary Accessions:
    • A4D1W1
    • O75219
    • Q17RW4
    • Q75MT0
    • Q75MU9
    • Q9UDT5
    • Q9UJ39

    Protein attributes for GLI3 Gene

    Size:
    1580 amino acids
    Molecular mass:
    169863 Da
    Quaternary structure:
    • The full-length GLI3 form (GLI3FL) interacts with SUFU and this interaction regulates the formation of either repressor or activator forms of GLI3. Its association with SUFU is regulated by Hh signaling and dissociation of the SUFU-GLI3 interaction requires the presence of the ciliary motor KIF3A (By similarity). Interacts with KIF7. The activator form of GLI3 (GLI3A) but not the repressor form (GLI3R) can interact with TRPS1. The phosphorylated form interacts with BTRC. Interacts with ZIC1. Interacts with ZIC3 (via C2H2-type domains 3, 4 and 5); the interaction enhances its transcriptional activity. Interacts with WRD11; the interaction associates EMX1 with GLI3 (PubMed:29263200).
    SequenceCaution:
    • Sequence=AAA52564.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GLI3 Gene

neXtProt entry for GLI3 Gene

Post-translational modifications for GLI3 Gene

  • Phosphorylated on multiple sites by protein kinase A (PKA) and phosphorylation by PKA primes further phosphorylation by CK1 and GSK3. Phosphorylated by DYRK2 (in vitro). Phosphorylation is essential for its proteolytic processing.
  • Transcriptional repressor GLI3R, a C-terminally truncated form, is generated from the full-length GLI3 protein (GLI3FL/GLI3-190) through proteolytic processing. This process requires PKA-primed phosphorylation of GLI3, ubiquitination of GLI3 and the presence of BTRC. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R. GLI3R formation leads to its dissociation from SUFU, allowing it to translocate into the nucleus, and repress Hh target genes. When Hh signaling is initiated, SUFU dissociates from GLI3FL and this has two consequences. First, GLI3R production is halted. Second, free GLI3FL translocates to the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A). Phosphorylated in vitro by ULK3.
  • Ubiquitination at Lys773, Lys784, and Lys800
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GLI3 Gene

Domains & Families for GLI3 Gene

Gene Families for GLI3 Gene

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

Protein Domains for GLI3 Gene

Blocks:
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GLI3 Gene

GenScript: Design optimal peptide antigens:
  • GLI3 full length protein (GLI3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10071

UniProtKB/Swiss-Prot:

GLI3_HUMAN :
  • Belongs to the GLI C2H2-type zinc-finger protein family.
Family:
  • Belongs to the GLI C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with GLI3: view

Function for GLI3 Gene

Molecular function for GLI3 Gene

UniProtKB/Swiss-Prot Function:
Has a dual function as a transcriptional activator and a repressor of the sonic hedgehog (Shh) pathway, and plays a role in limb development. The full-length GLI3 form (GLI3FL) after phosphorylation and nuclear translocation, acts as an activator (GLI3A) while GLI3R, its C-terminally truncated form, acts as a repressor. A proper balance between the GLI3 activator and the repressor GLI3R, rather than the repressor gradient itself or the activator/repressor ratio gradient, specifies limb digit number and identity. In concert with TRPS1, plays a role in regulating the size of the zone of distal chondrocytes, in restricting the zone of PTHLH expression in distal cells and in activating chondrocyte proliferation. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.
GENATLAS Biochemistry:
GLI-Kruppel family member GLI3 involved in the development of the CNS,craniofacial structure,limbs,lung,trachea and oesophagus,with homology to Drosophila segment polarity gene Cubitus interruptus (CI),more generatly acting both as an activator and a repressor as does CI in sonic hedgehog signaling,binding CREBBP,also binding to GLT1 promoter and inducing its transcription in response to SHH

Phenotypes From GWAS Catalog for GLI3 Gene

Gene Ontology (GO) - Molecular Function for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 18298960
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 2118997
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IC --
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with GLI3: view
genes like me logo Genes that share phenotypes with GLI3: view

Human Phenotype Ontology for GLI3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GLI3 Gene

MGI Knock Outs for GLI3:

Animal Model Products

CRISPR Products

Targeted motifs for GLI3 Gene
HOMER Transcription Factor Regulatory Elements motif GLI3
  • Consensus sequence: CGTGGGTGGTCC Submotif: canonical Cell Type: Limb GEO ID: GSE11077

Clone Products

  • Addgene plasmids for GLI3

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for GLI3 Gene

Localization for GLI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GLI3 Gene

Nucleus. Cytoplasm. Cell projection, cilium. Note=GLI3FL is localized predominantly in the cytoplasm while GLI3R resides mainly in the nucleus. Ciliary accumulation requires the presence of KIF7 and SMO. Translocation to the nucleus is promoted by interaction with ZIC1.

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 GLI3 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10693759
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 10077605
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA,IDA 16254602
genes like me logo Genes that share ontologies with GLI3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GLI3 Gene

Pathways & Interactions for GLI3 Gene

genes like me logo Genes that share pathways with GLI3: view

SIGNOR curated interactions for GLI3 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GLI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10693759
GO:0001656 metanephros development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001822 kidney development IEA --
genes like me logo Genes that share ontologies with GLI3: view

Drugs & Compounds for GLI3 Gene

(3) Drugs for GLI3 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2822
GANT 58 Pharma GLI antagonist,novel and potent 0
GANT61 Pharma GLI antagonist 0

(2) ApexBio Compounds for GLI3 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 GLI3: view

Drug Products

Transcripts for GLI3 Gene

mRNA/cDNA for GLI3 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GLI3

Alternative Splicing Database (ASD) splice patterns (SP) for GLI3 Gene

No ASD Table

Relevant External Links for GLI3 Gene

GeneLoc Exon Structure for
GLI3

Expression for GLI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GLI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GLI3 Gene

This gene is overexpressed in Placenta (61.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GLI3 Gene



Protein tissue co-expression partners for GLI3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GLI3

SOURCE GeneReport for Unigene cluster for GLI3 Gene:

Hs.21509

mRNA Expression by UniProt/SwissProt for GLI3 Gene:

P10071-GLI3_HUMAN
Tissue specificity: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.

Evidence on tissue expression from TISSUES for GLI3 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GLI3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • stomach
Pelvis:
  • anus
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GLI3: view

No data available for mRNA differential expression in normal tissues for GLI3 Gene

Orthologs for GLI3 Gene

This gene was present in the common ancestor of animals.

Orthologs for GLI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GLI3 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GLI3 31
  • 88 (a)
OneToOne
LOC785371 30
  • 87.82 (n)
dog
(Canis familiaris)
Mammalia GLI3 31 30
  • 86.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gli3 17 31 30
  • 84.77 (n)
rat
(Rattus norvegicus)
Mammalia Gli3 30
  • 84.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GLI3 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GLI3 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GLI3 31 30
  • 76.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GLI3 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gli3 30
  • 69.29 (n)
Str.13493 30
African clawed frog
(Xenopus laevis)
Amphibia Xgli3 30
zebrafish
(Danio rerio)
Actinopterygii gli3 31 30
  • 62.69 (n)
OneToOne
Dr.27121 30
fruit fly
(Drosophila melanogaster)
Insecta CG3850 32
  • 56 (a)
lmd 32
  • 54 (a)
ci 31 32
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tra-1 32
  • 53 (a)
ref-2 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Cin.11778 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11778 30
Species where no ortholog for GLI3 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 GLI3 Gene

ENSEMBL:
Gene Tree for GLI3 (if available)
TreeFam:
Gene Tree for GLI3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GLI3: view image

Paralogs for GLI3 Gene

Paralogs for GLI3 Gene

(27) SIMAP similar genes for GLI3 Gene using alignment to 3 proteins:

  • GLI3_HUMAN
  • C9J9N4_HUMAN
  • F8WEV4_HUMAN
genes like me logo Genes that share paralogs with GLI3: view

Variants for GLI3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GLI3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
13817 Pathogenic: Preaxial polydactyly 4 41,965,426(-) A/AG FRAMESHIFT_VARIANT
13819 Pathogenic: Postaxial polydactyly, type A1/B 41,965,365(-) TC/T FRAMESHIFT_VARIANT
13827 Pathogenic: Postaxial polydactyly B 41,967,654(-) CG/C FRAMESHIFT_VARIANT
13833 Pathogenic: Greig cephalopolysyndactyly syndrome 42,040,047(-) CT/C FRAMESHIFT_VARIANT
627565 Likely Pathogenic: Ptosis; Postaxial hand polydactyly; Hyperreflexia; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure 41,978,624(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GLI3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GLI3 Gene

Variant ID Type Subtype PubMed ID
dgv1283e214 CNV gain 21293372
esv2658044 CNV deletion 23128226
esv275491 CNV loss 21479260
esv3414311 CNV insertion 20981092
esv3571808 CNV loss 25503493
esv3571810 CNV loss 25503493
esv3612955 CNV loss 21293372
nsv1034175 CNV gain 25217958
nsv464440 CNV loss 19166990
nsv474842 CNV novel sequence insertion 20440878
nsv5717 CNV insertion 18451855
nsv606714 CNV loss 21841781
nsv606715 CNV gain 21841781
nsv830976 CNV gain 17160897
nsv966786 CNV duplication 23825009

Variation tolerance for GLI3 Gene

Residual Variation Intolerance Score: 0.506% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.04; 90.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GLI3 Gene

Human Gene Mutation Database (HGMD)
GLI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GLI3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GLI3 Gene

Disorders for GLI3 Gene

MalaCards: The human disease database

(57) MalaCards diseases for GLI3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GLI3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GLI3_HUMAN
  • Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism. {ECO:0000269 PubMed:10441342, ECO:0000269 PubMed:12414818, ECO:0000269 PubMed:12794692, ECO:0000269 PubMed:9302279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pallister-Hall syndrome (PHS) [MIM:146510]: 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:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly, postaxial A1 (PAPA1) [MIM:174200]: A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly, postaxial B (PAPB) [MIM:174200]: A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polydactyly, preaxial 4 (PPD4) [MIM:174700]: A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement. {ECO:0000269 PubMed:10441570}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GLI3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GLI3: view

No data available for Genatlas for GLI3 Gene

Publications for GLI3 Gene

  1. GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. (PMID: 2118997) Ruppert JM … Kinzler KW (Molecular and cellular biology 1990) 2 3 4 23 54
  2. Trps1, a regulator of chondrocyte proliferation and differentiation, interacts with the activator form of Gli3. (PMID: 19389374) Wuelling M … Vortkamp A (Developmental biology 2009) 3 4 23 54
  3. Characterization of the interactions of human ZIC3 mutants with GLI3. (PMID: 17764085) Zhu L … Belmont JW (Human mutation 2008) 3 4 23 54
  4. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. (PMID: 18252217) Craig DW … Kerrigan JF (American journal of human genetics 2008) 3 23 41 54
  5. Multisite protein kinase A and glycogen synthase kinase 3beta phosphorylation leads to Gli3 ubiquitination by SCFbetaTrCP. (PMID: 16705181) Tempé D … Concordet JP (Molecular and cellular biology 2006) 3 4 23 54

Products for GLI3 Gene

Sources for GLI3 Gene