• Gene id: 2736

Gene Summary

• Gene Symbol: GLI2   Gene   UCSC   Ensembl
• Aliases: CJS, HPE9, PHS2, THP1, THP2
• Gene name: GLI family zinc finger 2
• Alternate names: zinc finger protein GLI2, GLI family zinc finger protein 2, GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2, oncogene GLI2, tax helper protein 1, tax helper protein 2, tax-responsive element-2 holding protein, tax-responsive elemen,
• Gene location: 2q14.2 (120735867: 120992652)     Exons: 19     NC_000002.12
• Gene summary(Entrez): 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 li
• OMIM: 602580

Protein Summary

• Protein general information: P10070  
  • Name: Zinc finger protein GLI2 (GLI family zinc finger protein 2) (Tax helper protein)
  • Length: 1586  
  • Mass: 167783
  • Tissue specificity: Expressed in breast cancers (at protein level) (PubMed
• Sequence:

  METSASATASEKQEAKSGILEAAGFPDPGKKASPLVVAAAAAAAVAAQGVPQHLLPPFHAPLPIDMRHQEGRYHY
  EPHSVHGVHGPPALSGSPVISDISLIRLSPHPAGPGESPFNAPHPYVNPHMEHYLRSVHSSPTLSMISAARGLSP
  ADVAQEHLKERGLFGLPAPGTTPSDYYHQMTLVAGHPAPYGDLLMQSGGAASAPHLHDYLNPVDVSRFSSPRVTP
  RLSRKRALSISPLSDASLDLQRMIRTSPNSLVAYINNSRSSSAASGSYGHLSAGALSPAFTFPHPINPVAYQQIL
  SQQRGLGSAFGHTPPLIQPSPTFLAQQPMALTSINATPTQLSSSSNCLSDTNQNKQSSESAVSSTVNPVAIHKRS
  KVKTEPEGLRPASPLALTQGQVSGHGSCGCALPLSQEQLADLKEDLDRDDCKQEAEVVIYETNCHWEDCTKEYDT
  QEQLVHHINNEHIHGEKKEFVCRWQACTREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCSKAYSRLENLKTHLR
  SHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYICKIPGCTKRYTDPSSLRKHVKTVHGPDAHVTKKQR
  NDVHLRTPLLKENGDSEAGTEPGGPESTEASSTSQAVEDCLHVRAIKTESSGLCQSSPGAQSSCSSEPSPLGSAP
  NNDSGVEMPGTGPGSLGDLTALDDTPPGADTSALAAPSAGGLQLRKHMTTMHRFEQLKKEKLKSLKDSCSWAGPT
  PHTRNTKLPPLPGSGSILENFSGSGGGGPAGLLPNPRLSELSASEVTMLSQLQERRDSSTSTVSSAYTVSRRSSG
  ISPYFSSRRSSEASPLGAGRPHNASSADSYDPISTDASRRSSEASQCSGGSGLLNLTPAQQYSLRAKYAAATGGP
  PPTPLPGLERMSLRTRLALLDAPERTLPAGCPRPLGPRRGSDGPTYGHGHAGAAPAFPHEAPGGGARRASDPVRR
  PDALSLPRVQRFHSTHNVNPGPLPPCADRRGLRLQSHPSTDGGLARGAYSPRPPSISENVAMEAVAAGVDGAGPE
  ADLGLPEDDLVLPDDVVQYIKAHASGALDEGTGQVYPTESTGFSDNPRLPSPGLHGQRRMVAADSNVGPSAPMLG
  GCQLGFGAPSSLNKNNMPVQWNEVSSGTVDALASQVKPPPFPQGNLAVVQQKPAFGQYPGYSPQGLQASPGGLDS
  TQPHLQPRSGAPSQGIPRVNYMQQLRQPVAGSQCPGMTTTMSPHACYGQVHPQLSPSTISGALNQFPQSCSNMPA
  KPGHLGHPQQTEVAPDPTTMGNRHRELGVPDSALAGVPPPHPVQSYPQQSHHLAASMSQEGYHQVPSLLPARQPG
  FMEPQTGPMGVATAGFGLVQPRPPLEPSPTGRHRGVRAVQQQLAYARATGHAMAAMPSSQETAEAVPKGAMGNMG
  SVPPQPPPQDAGGAPDHSMLYYYGQIHMYEQDGGLENLGSCQVMRSQPPQPQACQDSIQPQPLPSPGVNQVSSTV
  DSQLLEAPQIDFDAIMDDGDHSSLFSGALSPSLLHSLSQNSSRLTTPRNSLTLPSIPAGISNMAVGDMSSMLTSL
  AEESKFLNMMT

• Structural information:
  • Interpro: IPR036236  IPR013087  
  • Prosite: PS00028 PS50157
  • STRING: ENSP00000390436
• Other Databases: GeneCards:  GLI2  Malacards:  GLI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005929	cilium	ISS	cellular component
GO:0008134	transcription factor binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	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:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0097542	ciliary tip	IEA	cellular component
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0035295	tube development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021696	cerebellar cortex morphogenesis	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0021508	floor plate formation	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007442	hindgut morphogenesis	IEA	biological process
GO:0007418	ventral midline 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:0001822	kidney development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA	biological process
GO:0060603	mammary gland duct morphogenesis	IEA	biological process
GO:0060513	prostatic bud formation	IEA	biological process
GO:0060322	head development	IEA	biological process
GO:0060032	notochord regression	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048566	embryonic digestive tract development	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:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0030902	hindbrain development	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0021965	spinal cord ventral commissure morphogenesis	IEA	biological process
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	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:0021517	ventral spinal cord development	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007507	heart 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:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002076	osteoblast development	IEA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0002009	morphogenesis of an epithelium	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0045740	positive regulation of DNA replication	IDA	biological process
GO:0007224	smoothened signaling pathway	IDA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	ISS	biological process
GO:0035295	tube development	ISS	biological process
GO:0021983	pituitary gland development	ISS	biological process
GO:0007442	hindgut morphogenesis	ISS	biological process
GO:0001501	skeletal system development	ISS	biological process
GO:0048666	neuron development	ISS	biological process
GO:0048589	developmental growth	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0030879	mammary gland development	ISS	biological process
GO:0021965	spinal cord ventral commissure morphogenesis	ISS	biological process
GO:0009954	proximal/distal pattern formation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0021696	cerebellar cortex morphogenesis	ISS	biological process
GO:0021513	spinal cord dorsal/ventral patterning	ISS	biological process
GO:0021508	floor plate formation	ISS	biological process
GO:0031069	hair follicle morphogenesis	IMP	biological process
GO:0007418	ventral midline development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0048566	embryonic digestive tract development	ISS	biological process
GO:0042475	odontogenesis of dentin-containing tooth	ISS	biological process
GO:0030324	lung development	ISS	biological process
GO:0021775	smoothened signaling pathway involved in ventral spinal cord interneuron specification	ISS	biological process
GO:0021517	ventral spinal cord development	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0002076	osteoblast development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04390	Hippo signaling pathway
hsa05217	Basal cell carcinoma
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Holoprosencephaly	KEGG:H00267
Holoprosencephaly	KEGG:H00267
Spina bifida	PMID:26446020
Biliary atresia	PMID:25746691
Cryptorchidism	MIK: 28606200
Disorders of sexual development (DSD)	MIK: 27814383
Cryptorchidism	MIK: 27814383
Hypospadias	MIK: 27814383
Incomplete fusion of the scrotal sac	MIK: 27814383
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
27814383	Disorders of sexual development (DSD), Cryptorchidism, Hypospadias, incomplete fusion of the scrotal sac	Gli2+/-			Male infertility