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Gli3 Gene Detail
Summary
  • Symbol
    Gli3
  • Name
    GLI-Kruppel family member GLI3
  • Synonyms
    Bph, brachyphalangy
  • Feature Type
    protein coding gene
  • IDs
    MGI:95729
    NCBI Gene: 14634
  • Gene Overview
    MyGene.info: GLI3
Location & Maps
more
  • Sequence Map
    Chr13:15463235-15730026 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      266792 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 5.43 cM, cytoband A2
  • Mapping Data
    37 experiments
Homology
more
  • Human Ortholog
    GLI3, GLI family zinc finger 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GLI3, GLI family zinc finger 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACLS, GCPS, GLI3-190, GLI3FL, PAPA, PAP-A, PAPA1, PAPB, PHS, PPDIV
  • Links
    NCBI Gene ID: 2737
    neXtProt AC: NX_P10071

  • Chr Location
    7p13; chr7:41960949-42264112 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 139
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: GLI3
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Gli3 mouse models; 6 with human GLI3 associations

Human Disease Mouse Models
       Greig Cephalopolysyndactyly Syndrome; GCPS   OMIM: 175700 View 1 model
Pallister-Hall Syndrome; PHS   OMIM: 146510 View 1 model
       Hypothalamic Hamartomas   OMIM: 241800
Polydactyly, Postaxial, Type A1; PAPA1   OMIM: 174200
Polydactyly, Preaxial IV   OMIM: 174700
Tracheoesophageal Fistula with or without Esophageal Atresia   OMIM: 189960
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    202 phenotypes from 20 alleles in 38 genetic backgrounds
    97 phenotypes from multigenic genotypes
    4 images
    250 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    29
  • Chemically induced (ENU)
    1
  • Gene trapped
    3
  • Radiation induced
    5
  • Spontaneous
    4
  • Targeted
    14
  • Transgenic
    2
  • Genomic Mutations
    1 involving Gli3
  • Incidental Mutations
Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024401 VEGA Gene Model | MGI Sequence Detail 266792 C57BL/6J ±  kb
transcript OTTMUST00000059816 VEGA | MGI Sequence Detail 8170 Not Applicable  
polypeptide OTTMUSP00000029127 VEGA | MGI Sequence Detail 1583 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1367 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000008028 transcriptional activator GLI3
  • InterPro Domains
    IPR032851 Transcription factor GLI3
    IPR007087 Zinc finger, C2H2
    IPR015880 Zinc finger, C2H2-like
    IPR013087 Zinc finger C2H2-type/integrase DNA-binding domain
Molecular
Reagents
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  • All nucleic 68
    Genomic 4
    cDNA 37
    Primer pair 11
    Other 16

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-10107, MGD-MRK-1107, MGD-MRK-13222, MGD-MRK-15835, MGD-MRK-1615, MGI:2145311, MGI:2145364
References
more
  • Summaries
    All 536
    Developmental Gene Expression 317
    Diseases 2
    Gene Ontology 77
    Phenotypes 250
  • Earliest
    J:12947 Lyon MF, et al., The overall rates of dominant and recessive lethal and visible mutation induced by spermatogonial X-irradiation of mice. Genet Res. 1964;5:448-467
  • Latest
    J:229163 Blake J, et al., Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. Hum Mol Genet. 2016 Feb 1;25(3):437-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory