GLI3 (GLI family zinc finger 3) - Rat Genome Database

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Gene: GLI3 (GLI family zinc finger 3) Homo sapiens
Analyze
Symbol: GLI3
Name: GLI family zinc finger 3
RGD ID: 1314553
HGNC Page HGNC:4319
Description: Enables several functions, including beta-catenin binding activity; enzyme binding activity; and mediator complex binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; regulation of DNA-templated transcription; and smoothened signaling pathway. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in cilium; cytosol; and nuclear lumen. Part of GLI-SUFU complex. Implicated in Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; anodontia; polydactyly; and syndactyly. Biomarker of liver cirrhosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACLS; DNA-binding protein; GCPS; GLI-Kruppel family member GLI3; GLI3 form of 190 kDa; GLI3 full length protein; GLI3-190; GLI3FL; glioma-associated oncogene family zinc finger 3; oncogene GLI3; PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV; transcriptional activator GLI3; zinc finger protein GLI3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38741,960,949 - 42,264,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl741,960,949 - 42,264,100 (-)EnsemblGRCh38hg38GRCh38
GRCh37742,000,547 - 42,276,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36741,967,072 - 42,243,137 (-)NCBINCBI36Build 36hg18NCBI36
Build 34741,776,919 - 42,036,135NCBI
Celera741,991,319 - 42,267,350 (-)NCBICelera
Cytogenetic Map7p14.1NCBI
HuRef741,885,427 - 42,162,362 (-)NCBIHuRef
CHM1_1742,003,855 - 42,280,223 (-)NCBICHM1_1
T2T-CHM13v2.0742,119,298 - 42,422,619 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2742,040,400 - 42,316,460 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-hydroxypropanoic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
Ac-Ser-Asp-Lys-Pro-OH  (EXP,ISO)
aflatoxin B1  (EXP)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
captopril  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
gentamycin  (ISO)
goralatide  (EXP,ISO)
iron atom  (EXP)
iron(0)  (EXP)
L-methionine  (ISO)
melphalan  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
potassium chromate  (EXP)
Ptaquiloside  (ISO)
pyrimidifen  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (EXP,ISO)
sunitinib  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vismodegib  (EXP)
zinc oxide  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell differentiation  (IEA,ISO)
anatomical structure formation involved in morphogenesis  (IEA,ISO)
anterior semicircular canal development  (IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
apoptotic process  (IEA,ISO)
artery development  (IEA,ISO)
axon guidance  (IEA,ISO)
brain development  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
branching morphogenesis of an epithelial tube  (IEA,ISO)
camera-type eye development  (IEA,ISO)
camera-type eye morphogenesis  (IEA,ISO)
cell differentiation involved in kidney development  (IEA,ISO)
cell population proliferation  (IEA,ISO)
central nervous system development  (IEA,ISO)
cerebral cortex radial glia-guided migration  (IEA,ISO)
chondrocyte differentiation  (IEA,ISO)
developmental growth  (IEA,ISO)
dorsal/ventral pattern formation  (IEA,ISO)
embryonic digestive tract development  (IEA,ISO,TAS)
embryonic digestive tract morphogenesis  (IEA,ISO)
embryonic digit morphogenesis  (IEA,ISO,TAS)
embryonic limb morphogenesis  (IEA,ISO)
embryonic morphogenesis  (IEA,ISO)
embryonic neurocranium morphogenesis  (IEA,ISO)
embryonic skeletal system morphogenesis  (IEA,ISO)
forebrain development  (IEA,ISO)
forebrain dorsal/ventral pattern formation  (IEA,ISO)
forebrain radial glial cell differentiation  (IEA,ISO)
frontal suture morphogenesis  (IEA,ISO)
gene expression  (IEA,ISO)
heart development  (IEA,ISO)
hindgut morphogenesis  (IEA,ISO)
hippocampus development  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
inner ear development  (IEA,ISO)
kidney development  (IEA,ISO)
lambdoid suture morphogenesis  (IEA,ISO)
larynx morphogenesis  (IEA,ISO)
lateral ganglionic eminence cell proliferation  (IEA,ISO)
lateral semicircular canal development  (IEA,ISO)
layer formation in cerebral cortex  (IEA,ISO)
limb development  (IEA)
limb morphogenesis  (IEA,IMP,ISO)
liver regeneration  (ISO)
lung development  (IEA,ISO)
mammary gland development  (IEA,ISO)
mammary gland specification  (IEA,ISO)
melanocyte differentiation  (IEA,ISO)
metanephros development  (IEA,ISO)
negative regulation of alpha-beta T cell differentiation  (IEA,ISS)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of canonical Wnt signaling pathway  (IDA)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of chondrocyte differentiation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IDA,IEA,ISO)
negative regulation of neuron differentiation  (IEA,ISO)
negative regulation of smoothened signaling pathway  (IEA,ISS)
negative regulation of stem cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IDA)
negative thymic T cell selection  (IEA,ISS)
neural tube development  (IEA,ISO)
neuroblast proliferation  (IEA,ISO)
neuron differentiation  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
nose morphogenesis  (TAS)
odontogenesis of dentin-containing tooth  (IEA,ISO)
oligodendrocyte differentiation  (IEA,ISO)
optic nerve morphogenesis  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
pallium development  (IEA,ISO)
pattern specification process  (IEA,ISO)
positive regulation of alpha-beta T cell differentiation  (IEA,ISS)
positive regulation of chondrocyte differentiation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IEA,ISO,ISS)
positive regulation of neuroblast proliferation  (IEA,ISO)
positive regulation of osteoblast differentiation  (IEA,ISO)
positive regulation of protein import into nucleus  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IMP)
prostate gland development  (ISO)
protein import into nucleus  (IEA,ISO)
protein processing  (IEA,ISO)
proximal/distal pattern formation  (IEA,ISO)
regulation of apoptotic process  (IEA,ISO)
regulation of bone development  (IEA,ISO)
regulation of cell differentiation  (IEA,ISO)
regulation of cell population proliferation  (IEA,ISO)
regulation of DNA-templated transcription  (IDA,IEA,ISO)
regulation of gene expression  (IEA,ISO)
regulation of smoothened signaling pathway  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
response to estrogen  (ISO)
roof of mouth development  (IEA,ISO)
sagittal suture morphogenesis  (IEA,ISO)
smoothened signaling pathway  (IBA,IDA,IEA,ISO,TAS)
smoothened signaling pathway involved in dorsal/ventral neural tube patterning  (IEA,ISO)
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification  (IEA,ISO)
smoothened signaling pathway involved in ventral spinal cord interneuron specification  (IEA,ISO)
spinal cord dorsal/ventral patterning  (IEA,ISO)
spinal cord motor neuron differentiation  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
subpallium development  (IEA,ISO)
T cell differentiation in thymus  (IEA,ISO,ISS)
telencephalon development  (IEA,ISO)
thymocyte apoptotic process  (IEA,ISS)
tongue development  (IEA,ISO)
tube development  (IEA,ISO)
vocalization behavior  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-3 toe syndactyly  (IAGP)
1-5 toe syndactyly  (IAGP)
3-4 finger cutaneous syndactyly  (IAGP)
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormal calvaria morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal lung lobation  (IAGP)
Abnormal muscle fiber morphology  (IAGP)
Abnormal prolactin level  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Absent hallux  (IAGP)
Absent radius  (IAGP)
Absent tibia  (IAGP)
Accelerated skeletal maturation  (IAGP)
Accessory oral frenulum  (IAGP)
Adrenal hypoplasia  (IAGP)
Adrenocorticotropic hormone deficiency  (IAGP)
Agenesis of corpus callosum  (IAGP)
Ambiguous genitalia  (IAGP)
Anal atresia  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the 2nd metacarpal  (IAGP)
Aplasia of the 4th metacarpal  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/hypoplasia of the uterus  (IAGP)
Aplasia/Hypoplasia of the vagina  (IAGP)
Arrhinencephaly  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Auricular tag  (IAGP)
Autosomal dominant inheritance  (IAGP)
Babinski sign  (IAGP)
Basilar invagination  (IAGP)
Bifid epiglottis  (IAGP)
Bifid uvula  (IAGP)
Bilateral postaxial polydactyly  (IAGP)
Bilateral renal agenesis  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (IAGP)
Broad thumb  (IAGP)
Broad toe  (IAGP)
Camptodactyly of toe  (IAGP)
Central adrenal insufficiency  (IAGP)
Cerebellar hypoplasia  (IAGP)
Choanal atresia  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Coarctation of aorta  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Coxa valga  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased circulating cortisol level  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Decreased testicular size  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Distal arthrogryposis  (IAGP)
Distal shortening of limbs  (IAGP)
Distal urethral duplication  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of thumb phalanx  (IAGP)
Dysplastic distal thumb phalanges with a central hole  (IAGP)
Ectopic kidney  (IAGP)
Facial grimacing  (IAGP)
Finger syndactyly  (IAGP)
Focal emotional seizure with laughing  (IAGP)
Foot oligodactyly  (IAGP)
Frontal bossing  (IAGP)
Functional motor deficit  (IAGP)
Generalized dystonia  (IAGP)
Global developmental delay  (IAGP)
Gonadotropin deficiency  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hearing impairment  (IAGP)
Hemivertebrae  (IAGP)
Hepatoblastoma  (IAGP)
High forehead  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hyperglycemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the epiglottis  (IAGP)
Hypospadias  (IAGP)
Hypothalamic hamartoma  (IAGP)
Increased laxity of ankles  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint contracture of the hand  (IAGP)
Keratoconus  (IAGP)
Knee flexion contracture  (IAGP)
Large for gestational age  (IAGP)
Laryngeal cleft  (IAGP)
Macrocephaly  (IAGP)
Mesoaxial foot polydactyly  (IAGP)
Mesoaxial hand polydactyly  (IAGP)
Mesoaxial polydactyly  (IAGP)
Mesomelia  (IAGP)
Mesomelic leg shortening  (IAGP)
Metatarsus adductus  (IAGP)
Metopic synostosis  (IAGP)
Microglossia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microretrognathia  (IAGP)
Microtia  (IAGP)
Midline facial capillary hemangioma  (IAGP)
Myelomeningocele  (IAGP)
Nail dysplasia  (IAGP)
Natal tooth  (IAGP)
Neonatal death  (IAGP)
Oligodactyly  (IAGP)
Oligohydramnios  (IAGP)
Omphalocele  (IAGP)
Osteochondroma  (IAGP)
Overlapping toe  (IAGP)
Panhypopituitarism  (IAGP)
Paroxysmal bursts of laughter  (IAGP)
Partial absence of foot  (IAGP)
Patent ductus arteriosus  (IAGP)
Pituitary hypothyroidism  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polydactyly  (IAGP)
Polydactyly affecting the 3rd finger  (IAGP)
Polydactyly affecting the 4th finger  (IAGP)
Polysyndactyly of hallux  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Postaxial polydactyly type A  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial foot polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Precocious puberty  (IAGP)
Preductal coarctation of the aorta  (IAGP)
Primary adrenal insufficiency  (IAGP)
Prominent occiput  (IAGP)
Proximal tibial and fibular fusion  (IAGP)
Ptosis  (IAGP)
Radial bowing  (IAGP)
Radial club hand  (IAGP)
Radial head subluxation  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Renal cyst  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia  (IAGP)
Respiratory insufficiency  (IAGP)
Rib fusion  (IAGP)
Rudimentary to absent tibiae  (IAGP)
Scaphocephaly  (IAGP)
Secondary growth hormone deficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 4th metacarpal  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short tibia  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Skeletal dysplasia  (IAGP)
Sloping forehead  (IAGP)
Small scrotum  (IAGP)
Split foot  (IAGP)
Split hand  (IAGP)
Supernumerary metacarpal bones  (IAGP)
Syndactyly  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Tarsal synostosis  (IAGP)
Telecanthus  (IAGP)
Thyroid dysgenesis  (IAGP)
Thyroid hypoplasia  (IAGP)
Toe syndactyly  (IAGP)
Trigonocephaly  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Unilateral renal agenesis  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Y-shaped metacarpals  (IAGP)
Y-shaped metatarsals  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Pallister-Hall syndrome phenotype in mice mutant for Gli3. Böse J, etal., Hum Mol Genet. 2002 May 1;11(9):1129-35.
2. Dynamic changes of Sonic Hedgehog signaling pathway in gastric mucosa of rats with MNNG-induced gastric precancerous lesions. Cai D, etal., J Cell Physiol. 2019 Jul;234(7):10827-10834. doi: 10.1002/jcp.27908. Epub 2018 Dec 7.
3. The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus. Cao D, etal., BMC Musculoskelet Disord. 2009 Nov 19;10:142. doi: 10.1186/1471-2474-10-142.
4. Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. Cheng B, etal., J Clin Lab Anal. 2006;20(4):133-8.
5. Hedgehog signaling update. Cohen MM, Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909.
6. New insights into genotype-phenotype correlation for GLI3 mutations. Démurger F, etal., Eur J Hum Genet. 2015 Jan;23(1):92-102. doi: 10.1038/ejhg.2014.62. Epub 2014 Apr 16.
7. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Fujioka H, etal., Clin Genet. 2005 May;67(5):429-33.
8. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
9. Gli3-deficient mice exhibit cleft palate associated with abnormal tongue development. Huang X, etal., Dev Dyn. 2008 Oct;237(10):3079-87. doi: 10.1002/dvdy.21714.
10. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. Jamsheer A, etal., J Appl Genet. 2012 Nov;53(4):415-22. doi: 10.1007/s13353-012-0109-x. Epub 2012 Aug 18.
11. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Johnston JJ, etal., Am J Hum Genet. 2005 Apr;76(4):609-22. Epub 2005 Feb 28.
12. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Jones S, etal., Science. 2008 Sep 26;321(5897):1801-6. Epub 2008 Sep 4.
13. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Kalff-Suske M, etal., Hum Mol Genet. 1999 Sep;8(9):1769-77.
14. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Kang S, etal., Nat Genet. 1997 Mar;15(3):266-8.
15. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. Kim PC, etal., J Pediatr Surg. 2001 Feb;36(2):381-4. doi: 10.1053/jpsu.2001.20722.
16. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Krebs O, etal., Development. 2003 Dec;130(24):6037-47.
17. Gli3 is a novel downstream target of miR‑200a with an anti‑fibrotic role for progression of liver fibrosis in vivo and in vitro. Li L, etal., Mol Med Rep. 2020 Apr;21(4):1861-1871. doi: 10.3892/mmr.2020.10997. Epub 2020 Feb 21.
18. A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population. Liu H, etal., Eur J Oral Sci. 2012 Oct;120(5):378-85. doi: 10.1111/j.1600-0722.2012.00986.x. Epub 2012 Aug 18.
19. Genetic research and structural dysplasia assessment of anorectal malformations in neonatal male rats induced by di(n-butyl) phthalate. Liu ZH, etal., Environ Toxicol. 2016 Mar;31(3):261-8. doi: 10.1002/tox.22040. Epub 2014 Sep 12.
20. A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Matera I, etal., Hum Mol Genet. 2008 Jul 15;17(14):2118-31. doi: 10.1093/hmg/ddn110. Epub 2008 Apr 7.
21. Frequent deregulations in the hedgehog signaling network and cross-talks with the epidermal growth factor receptor pathway involved in cancer progression and targeted therapies. Mimeault M and Batra SK, Pharmacol Rev. 2010 Sep;62(3):497-524.
22. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
23. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
24. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
25. Mutation in GLI3 in postaxial polydactyly type A. Radhakrishna U, etal., Nat Genet. 1997 Nov;17(3):269-71.
26. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
28. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
29. The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene. Thien H and Rüther U, Mamm Genome. 1999 Mar;10(3):205-9.
30. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex. Volodarsky M, etal., BMC Med Genet. 2014 Sep 30;15:110. doi: 10.1186/s12881-014-0110-9.
31. A hypermorphic mouse Gli3 allele results in a polydactylous limb phenotype. Wang C, etal., Dev Dyn. 2007 Mar;236(3):769-76.
32. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. Wang Z, etal., Clin Chim Acta. 2014 Jun 10;433:195-9. doi: 10.1016/j.cca.2014.03.012. Epub 2014 Mar 22.
33. Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. Zhu YP, etal., Reprod Toxicol. 2016 Jun;61:169-76. doi: 10.1016/j.reprotox.2016.04.007. Epub 2016 Apr 11.
Additional References at PubMed
PMID:1879832   PMID:2118997   PMID:2850480   PMID:7566098   PMID:7829101   PMID:8378770   PMID:9302279   PMID:9402960   PMID:9843199   PMID:9847074   PMID:10075717   PMID:10077605  
PMID:10441570   PMID:10564661   PMID:10678662   PMID:10693759   PMID:10806483   PMID:11001584   PMID:11238441   PMID:11960000   PMID:12142027   PMID:12414818   PMID:12435627   PMID:12477932  
PMID:12545275   PMID:12575660   PMID:12575661   PMID:12794692   PMID:12853948   PMID:14608643   PMID:14611647   PMID:15390181   PMID:16254602   PMID:16344560   PMID:16371461   PMID:16705181  
PMID:17000779   PMID:17029207   PMID:17081983   PMID:17283082   PMID:17331723   PMID:17400206   PMID:17426814   PMID:17764085   PMID:18000979   PMID:18029348   PMID:18057099   PMID:18057317  
PMID:18252217   PMID:18298960   PMID:18478223   PMID:18559511   PMID:18655123   PMID:19084012   PMID:19095771   PMID:19274049   PMID:19389374   PMID:19432668   PMID:19453261   PMID:19490893  
PMID:19592253   PMID:19593328   PMID:19729595   PMID:19829694   PMID:19955409   PMID:19996099   PMID:20050020   PMID:20201963   PMID:20301619   PMID:20301638   PMID:20301753   PMID:20425471  
PMID:20426846   PMID:20583172   PMID:20610541   PMID:20634891   PMID:20672375   PMID:20711444   PMID:21069353   PMID:21108399   PMID:21209912   PMID:21320477   PMID:21326280   PMID:21531006  
PMID:21873635   PMID:21921029   PMID:22036096   PMID:22227409   PMID:22535956   PMID:22678783   PMID:23091001   PMID:23176625   PMID:23293081   PMID:23326517   PMID:23334564   PMID:23382691  
PMID:23442119   PMID:23454725   PMID:23667531   PMID:23736020   PMID:23889567   PMID:23955340   PMID:24102645   PMID:24146948   PMID:24174682   PMID:24278334   PMID:24311597   PMID:24376456  
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PMID:35140242   PMID:35218158   PMID:35271311   PMID:35546307   PMID:35844135   PMID:35937499   PMID:36411030   PMID:37704626   PMID:38864382   PMID:38968120   PMID:39080720  


Genomics

Comparative Map Data
GLI3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38741,960,949 - 42,264,268 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl741,960,949 - 42,264,100 (-)EnsemblGRCh38hg38GRCh38
GRCh37742,000,547 - 42,276,808 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36741,967,072 - 42,243,137 (-)NCBINCBI36Build 36hg18NCBI36
Build 34741,776,919 - 42,036,135NCBI
Celera741,991,319 - 42,267,350 (-)NCBICelera
Cytogenetic Map7p14.1NCBI
HuRef741,885,427 - 42,162,362 (-)NCBIHuRef
CHM1_1742,003,855 - 42,280,223 (-)NCBICHM1_1
T2T-CHM13v2.0742,119,298 - 42,422,619 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2742,040,400 - 42,316,460 (-)NCBI
Gli3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391315,638,308 - 15,904,611 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1315,637,820 - 15,904,611 (+)EnsemblGRCm39 Ensembl
GRCm381315,463,723 - 15,730,026 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1315,463,235 - 15,730,026 (+)EnsemblGRCm38mm10GRCm38
MGSCv371315,555,556 - 15,821,859 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361315,254,867 - 15,517,860 (+)NCBIMGSCv36mm8
Celera1315,745,941 - 16,017,370 (+)NCBICelera
Cytogenetic Map13A1NCBI
cM Map135.43NCBI
Gli3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81754,134,064 - 54,405,198 (-)NCBIGRCr8
mRatBN7.21749,438,567 - 49,709,712 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1749,438,567 - 49,709,712 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1752,630,120 - 52,901,404 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01756,633,008 - 56,904,289 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01750,730,889 - 51,002,171 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01752,294,942 - 52,569,036 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1752,294,942 - 52,569,036 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01750,360,049 - 50,629,477 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41757,594,102 - 57,867,710 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11757,781,069 - 57,856,545 (-)NCBI
Celera1745,497,321 - 45,768,089 (-)NCBICelera
Cytogenetic Map17q12.1NCBI
Gli3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554601,528,412 - 1,805,918 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554601,528,457 - 1,805,584 (+)NCBIChiLan1.0ChiLan1.0
GLI3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2646,203,233 - 46,479,589 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1794,528,190 - 94,804,051 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0742,004,965 - 42,280,7