• Gene id: 2737

Gene Summary

• Gene Symbol: GLI3   Gene   UCSC   Ensembl
• Aliases: ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV
• Gene name: GLI family zinc finger 3
• Alternate names: transcriptional activator GLI3, GLI-Kruppel family member GLI3, glioma-associated oncogene family zinc finger 3, oncogene GLI3, zinc finger protein GLI3,
• Gene location: 7p14.1 (42237208: 41960948)     Exons: 17     NC_000007.14
• Gene summary(Entrez): 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 l
• OMIM: 165240

Protein Summary

• Protein general information: P10071  
  • Name: Transcriptional activator GLI3 (GLI3 form of 190 kDa) (GLI3 190) (GLI3 full length protein) (GLI3FL) [Cleaved into: Transcriptional repressor GLI3R (GLI3 C terminally truncated form) (GLI3 form of 83 kDa) (GLI3 83)]
  • Length: 1580  
  • Mass: 169863
  • Tissue specificity: Is expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, and myometrium.
• Sequence:

  MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSKVSEEP
  STSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDARHHEGRYHYDP
  SPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSSPSLSMISATRGLSPT
  DAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFSSPRLSARPSRKRTLSISPLS
  DHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTYSSAPVSLHMHQQILSRQQSLGSAFG
  HSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSESAVSSTGDPMHNKRSKIKPDEDLPSPGARG
  QQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCAREFDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQK
  PFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRT
  HSNEKPYVCKIPGCTKRYTDPSSLRKHVKTVHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGE
  QQDLSNTTSKREECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIM
  DSTISTATTALALQARRNPAGTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMT
  LLPGRSDLSGVDVTMLNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPIST
  DASRRSSEASQSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHA
  PRRCSDGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYT
  RPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDSKVPHG
  PGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRAFGFCNGMVVH
  PQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNRQPVAPGALDGACGAG
  IQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGDSMQHPGAGRPGQQMLGQISA
  TSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRDSLALQSGQLSDTSQTCRVNGIKMEM
  KGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQGTSAKNSELLSPGANQVTSTVDSLDSHDLE
  GVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTTPRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKF
  LAVMQ

• Structural information:
  • Interpro: IPR032851  IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • PDB: 4BLD
  • PDBsum: 4BLD
  • DIP: 32538
  • STRING: ENSP00000379258
• Other Databases: GeneCards:  GLI3  Malacards:  GLI3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097542	ciliary tip	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0097546	ciliary base	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021861	forebrain radial glial cell differentiation	IEA	biological process
GO:0021819	layer formation in cerebral cortex	IEA	biological process
GO:0021801	cerebral cortex radial glia guided migration	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0016485	protein processing	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007442	hindgut morphogenesis	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0005930	axoneme	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0060875	lateral semicircular canal development	IEA	biological process
GO:0060873	anterior semicircular canal development	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0060594	mammary gland specification	IEA	biological process
GO:0060367	sagittal suture morphogenesis	IEA	biological process
GO:0060364	frontal suture morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0035295	tube development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0022018	lateral ganglionic eminence cell proliferation	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0021798	forebrain dorsal/ventral pattern formation	IEA	biological process
GO:0021776	smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA	biological process
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	IEA	biological process
GO:0021631	optic nerve morphogenesis	IEA	biological process
GO:0021544	subpallium development	IEA	biological process
GO:0021543	pallium development	IEA	biological process
GO:0017053	transcription repressor complex	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:1903010	regulation of bone development	IEA	biological process
GO:0071625	vocalization behavior	IEA	biological process
GO:0070242	thymocyte apoptotic process	IEA	biological process
GO:0061005	cell differentiation involved in kidney development	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060366	lambdoid suture morphogenesis	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048566	embryonic digestive tract development	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045879	negative regulation of smoothened signaling pathway	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045595	regulation of cell differentiation	IEA	biological process
GO:0045060	negative thymic T cell selection	IEA	biological process
GO:0043586	tongue development	IEA	biological process
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0035108	limb morphogenesis	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0032332	positive regulation of chondrocyte differentiation	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0046638	positive regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0007224	smoothened signaling pathway	TAS	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0042733	embryonic digit morphogenesis	TAS	biological process
GO:0043585	nose morphogenesis	TAS	biological process
GO:0045060	negative thymic T cell selection	ISS	biological process
GO:0045879	negative regulation of smoothened signaling pathway	ISS	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0048566	embryonic digestive tract development	TAS	biological process
GO:0070242	thymocyte apoptotic process	ISS	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0042826	histone deacetylase binding	IDA	molecular function
GO:0036033	mediator complex binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0035108	limb morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035035	histone acetyltransferase binding	IPI	molecular function
GO:0035108	limb morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04024	cAMP signaling pathway
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Postaxial polydactyly	KEGG:H01852
Preaxial polydactyly	KEGG:H02332
Pallister-Hall syndrome	KEGG:H00502
Polysyndactyly	KEGG:H01226
Greig cephalopolysyndactyly syndrome	KEGG:H02161
Postaxial polydactyly	KEGG:H01852
Preaxial polydactyly	KEGG:H02332
Pallister-Hall syndrome	KEGG:H00502
Polysyndactyly	KEGG:H01226
Greig cephalopolysyndactyly syndrome	KEGG:H02161
Syndactyly	PMID:25267529
Polydactyly	PMID:25267529
Anodontia	PMID:22984994
Greig cephalopolysyndactyly syndrome	PMID:24736735
Pallister-Hall syndrome	PMID:24736735
Cryptorchidism	MIK: 28606200
Disorders of sexual development (DSD)	MIK: 27814383
Cryptorchidism	MIK: 27814383
Hypospadias	MIK: 27814383
Incomplete fusion of the scrotal sac	MIK: 27814383
Hypospadias	MIK: 31219235
Low sperm motility	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31219235	Hypospadias	c.C2110T(p.Q704X)	Chinese	138 cases	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Low sperm motility			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
27814383	Disorders of sexual development (DSD), Cryptorchidism, Hypospadias, incomplete fusion of the scrotal sac	Gli3?699/+			Male infertility