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P10070

- GLI2_HUMAN

UniProt

P10070 - GLI2_HUMAN

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Protein

Zinc finger protein GLI2

Gene
GLI2, THP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Acts as a transcriptional activator. May play a role during embryogenesis. Binds to the DNA sequence 5'-GAACCACCCA-3' which is part of the TRE-2S regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1. Is involved in the smoothened (SHH) signaling pathway.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri437 – 46428C2H2-type 1Add
BLAST
Zinc fingeri475 – 49723C2H2-type 2; degenerateAdd
BLAST
Zinc fingeri503 – 52725C2H2-type 3Add
BLAST
Zinc fingeri533 – 55826C2H2-type 4Add
BLAST
Zinc fingeri564 – 58926C2H2-type 5Add
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. protein binding Source: UniProtKB
  3. sequence-specific DNA binding Source: UniProtKB
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  5. transcription regulatory region DNA binding Source: Ensembl
  6. zinc ion binding Source: UniProtKB

GO - Biological processi

  1. axon guidance Source: UniProtKB
  2. branching morphogenesis of an epithelial tube Source: UniProtKB
  3. cell proliferation Source: UniProtKB
  4. cellular response to organic cyclic compound Source: Ensembl
  5. cerebellar cortex morphogenesis Source: UniProtKB
  6. chondrocyte differentiation Source: Ensembl
  7. cochlea morphogenesis Source: Ensembl
  8. developmental growth Source: UniProtKB
  9. embryonic digestive tract development Source: UniProtKB
  10. embryonic digit morphogenesis Source: Ensembl
  11. epidermal cell differentiation Source: UniProtKB
  12. floor plate formation Source: UniProtKB
  13. head development Source: Ensembl
  14. heart development Source: UniProtKB
  15. hindbrain development Source: UniProtKB
  16. hindgut morphogenesis Source: UniProtKB
  17. in utero embryonic development Source: Ensembl
  18. kidney development Source: UniProtKB
  19. lung development Source: UniProtKB
  20. mammary gland development Source: UniProtKB
  21. mammary gland duct morphogenesis Source: Ensembl
  22. negative regulation of chondrocyte differentiation Source: Ensembl
  23. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  24. neuron development Source: UniProtKB
  25. notochord regression Source: Ensembl
  26. odontogenesis of dentin-containing tooth Source: UniProtKB
  27. osteoblast development Source: UniProtKB
  28. osteoblast differentiation Source: UniProtKB
  29. pattern specification process Source: UniProtKB
  30. pituitary gland development Source: UniProtKB
  31. positive regulation of DNA replication Source: UniProtKB
  32. positive regulation of neuron differentiation Source: Ensembl
  33. positive regulation of T cell differentiation in thymus Source: BHF-UCL
  34. positive regulation of transcription, DNA-templated Source: UniProtKB
  35. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  36. prostatic bud formation Source: Ensembl
  37. proximal/distal pattern formation Source: UniProtKB
  38. regulation of smoothened signaling pathway Source: Ensembl
  39. regulation of transcription, DNA-templated Source: GOC
  40. response to mechanical stimulus Source: Ensembl
  41. skeletal system development Source: UniProtKB
  42. smoothened signaling pathway Source: UniProtKB
  43. smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl
  44. smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Source: Ensembl
  45. smoothened signaling pathway involved in spinal cord motor neuron cell fate specification Source: Ensembl
  46. smoothened signaling pathway involved in ventral spinal cord interneuron specification Source: UniProtKB
  47. spinal cord dorsal/ventral patterning Source: UniProtKB
  48. spinal cord ventral commissure morphogenesis Source: UniProtKB
  49. transcription, DNA-templated Source: UniProtKB-KW
  50. tube development Source: UniProtKB
  51. ventral midline development Source: UniProtKB
  52. ventral spinal cord development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

SignaLinkiP10070.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein GLI2
Alternative name(s):
Tax helper protein
Gene namesi
Name:GLI2
Synonyms:THP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:4318. GLI2.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. membrane Source: Ensembl
  3. motile primary cilium Source: Ensembl
  4. nuclear speck Source: Ensembl
  5. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Holoprosencephaly 9 (HPE9) [MIM:610829]: A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. Holoprosencephaly type 9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti479 – 4791R → G in HPE9. 1 Publication
VAR_032975
Natural varianti932 – 9321P → S in HPE9. 1 Publication
VAR_032976
Natural varianti1444 – 14441M → I in HPE9. 1 Publication
Corresponds to variant rs146467786 [ dbSNP | Ensembl ].
VAR_032977
Natural varianti1554 – 15541P → L in HPE9. 1 Publication
VAR_032978

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

MIMi610829. phenotype.
Orphaneti93925. Alobar holoprosencephaly.
95494. Combined pituitary hormone deficiencies, genetic forms.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA28721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 15861586Zinc finger protein GLI2PRO_0000354050Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei149 – 1491Phosphoserine1 Publication
Modified residuei234 – 2341Phosphoserine2 Publications
Modified residuei236 – 2361Phosphoserine2 Publications
Modified residuei242 – 2421Phosphoserine1 Publication
Modified residuei388 – 3881Phosphoserine; by DYRK21 Publication
Modified residuei725 – 7251Phosphothreonine By similarity
Modified residuei757 – 7571N6-acetyllysine; by EP3001 Publication
Modified residuei1011 – 10111Phosphoserine; by DYRK21 Publication

Post-translational modificationi

Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes proteasomal degradation of GLI2.2 Publications
Acetylation at Lys-757 inhibits Hh target gene expression, probably by impeding entry into chromatin thus preventing promoter occupancy.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP10070.
PaxDbiP10070.
PRIDEiP10070.

PTM databases

PhosphoSiteiP10070.

Expressioni

Gene expression databases

ArrayExpressiP10070.
BgeeiP10070.
CleanExiHS_GLI2.
GenevestigatoriP10070.

Organism-specific databases

HPAiCAB008558.

Interactioni

Subunit structurei

Interaction with ZIC By similarity.

Protein-protein interaction databases

BioGridi108998. 7 interactions.
STRINGi9606.ENSP00000354586.

Structurei

3D structure databases

ProteinModelPortaliP10070.
SMRiP10070. Positions 436-590.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi789 – 87688Ser-richAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOVERGENiHBG005844.
KOiK16798.
OMAiSYPQQSH.
OrthoDBiEOG7X6KZ8.
PhylomeDBiP10070.
TreeFamiTF350216.

Family and domain databases

Gene3Di3.30.160.60. 5 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF00096. zf-C2H2. 2 hits.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 5 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 5 (identifier: P10070-5) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

METSASATAS EKQEAKSGIL EAAGFPDPGK KASPLVVAAA AAAAVAAQGV     50
PQHLLPPFHA PLPIDMRHQE GRYHYEPHSV HGVHGPPALS GSPVISDISL 100
IRLSPHPAGP GESPFNAPHP YVNPHMEHYL RSVHSSPTLS MISAARGLSP 150
ADVAQEHLKE RGLFGLPAPG TTPSDYYHQM TLVAGHPAPY GDLLMQSGGA 200
ASAPHLHDYL NPVDVSRFSS PRVTPRLSRK RALSISPLSD ASLDLQRMIR 250
TSPNSLVAYI NNSRSSSAAS GSYGHLSAGA LSPAFTFPHP INPVAYQQIL 300
SQQRGLGSAF GHTPPLIQPS PTFLAQQPMA LTSINATPTQ LSSSSNCLSD 350
TNQNKQSSES AVSSTVNPVA IHKRSKVKTE PEGLRPASPL ALTQGQVSGH 400
GSCGCALPLS QEQLADLKED LDRDDCKQEA EVVIYETNCH WEDCTKEYDT 450
QEQLVHHINN EHIHGEKKEF VCRWQACTRE QKPFKAQYML VVHMRRHTGE 500
KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC NKAFSNASDR 550
AKHQNRTHSN EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR 600
NDVHLRTPLL KENGDSEAGT EPGGPESTEA SSTSQAVEDC LHVRAIKTES 650
SGLCQSSPGA QSSCSSEPSP LGSAPNNDSG VEMPGTGPGS LGDLTALDDT 700
PPGADTSALA APSAGGLQLR KHMTTMHRFE QLKKEKLKSL KDSCSWAGPT 750
PHTRNTKLPP LPGSGSILEN FSGSGGGGPA GLLPNPRLSE LSASEVTMLS 800
QLQERRDSST STVSSAYTVS RRSSGISPYF SSRRSSEASP LGAGRPHNAS 850
SADSYDPIST DASRRSSEAS QCSGGSGLLN LTPAQQYSLR AKYAAATGGP 900
PPTPLPGLER MSLRTRLALL DAPERTLPAG CPRPLGPRRG SDGPTYGHGH 950
AGAAPAFPHE APGGGARRAS DPVRRPDALS LPRVQRFHST HNVNPGPLPP 1000
CADRRGLRLQ SHPSTDGGLA RGAYSPRPPS ISENVAMEAV AAGVDGAGPE 1050
ADLGLPEDDL VLPDDVVQYI KAHASGALDE GTGQVYPTES TGFSDNPRLP 1100
SPGLHGQRRM VAADSNVGPS APMLGGCQLG FGAPSSLNKN NMPVQWNEVS 1150
SGTVDALASQ VKPPPFPQGN LAVVQQKPAF GQYPGYSPQG LQASPGGLDS 1200
TQPHLQPRSG APSQGIPRVN YMQQLRQPVA GSQCPGMTTT MSPHACYGQV 1250
HPQLSPSTIS GALNQFPQSC SNMPAKPGHL GHPQQTEVAP DPTTMGNRHR 1300
ELGVPDSALA GVPPPHPVQS YPQQSHHLAA SMSQEGYHQV PSLLPARQPG 1350
FMEPQTGPMG VATAGFGLVQ PRPPLEPSPT GRHRGVRAVQ QQLAYARATG 1400
HAMAAMPSSQ ETAEAVPKGA MGNMGSVPPQ PPPQDAGGAP DHSMLYYYGQ 1450
IHMYEQDGGL ENLGSCQVMR SQPPQPQACQ DSIQPQPLPS PGVNQVSSTV 1500
DSQLLEAPQI DFDAIMDDGD HSSLFSGALS PSLLHSLSQN SSRLTTPRNS 1550
LTLPSIPAGI SNMAVGDMSS MLTSLAEESK FLNMMT 1586
Length:1,586
Mass (Da):167,783
Last modified:November 25, 2008 - v4
Checksum:i86556112E13DE106
GO
Isoform Alpha (identifier: P10070-1) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.

Show »
Length:1,258
Mass (Da):133,241
Checksum:i0240AD781CDAB1CB
GO
Isoform Beta (identifier: P10070-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     394-410: Missing.

Show »
Length:1,241
Mass (Da):131,659
Checksum:iCAD32033BE131937
GO
Isoform Gamma (identifier: P10070-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     1149-1157: VSSGTVDAL → ASATWLSGT
     1158-1586: Missing.

Show »
Length:829
Mass (Da):88,065
Checksum:iFBCD29D12CFCC01C
GO
Isoform Delta (identifier: P10070-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-328: Missing.
     394-410: Missing.
     1149-1157: VSSGTVDAL → ASATWLSGT
     1158-1586: Missing.

Show »
Length:812
Mass (Da):86,482
Checksum:iFE9721B04A860A5C
GO

Sequence cautioni

The sequence BAA03568.1 differs from that shown. Reason: Frameshift at positions 754 and 760.
The sequence BAA03569.1 differs from that shown. Reason: Frameshift at positions 398, 410, 754 and 760.
The sequence BAA25665.1 differs from that shown. Reason: Frameshift at positions 398 and 410.
The sequence BAA25667.1 differs from that shown. Reason: Frameshift at positions 398 and 410.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti449 – 4491D → H.
Corresponds to variant rs13427953 [ dbSNP | Ensembl ].
VAR_047303
Natural varianti479 – 4791R → G in HPE9. 1 Publication
VAR_032975
Natural varianti579 – 5791S → I.
Corresponds to variant rs12618388 [ dbSNP | Ensembl ].
VAR_047304
Natural varianti625 – 6251P → S.
Corresponds to variant rs3099537 [ dbSNP | Ensembl ].
VAR_047305
Natural varianti932 – 9321P → S in HPE9. 1 Publication
VAR_032976
Natural varianti1156 – 11561A → S.1 Publication
Corresponds to variant rs3738880 [ dbSNP | Ensembl ].
VAR_047306
Natural varianti1306 – 13061D → N.1 Publication
Corresponds to variant rs12711538 [ dbSNP | Ensembl ].
VAR_047307
Natural varianti1444 – 14441M → I in HPE9. 1 Publication
Corresponds to variant rs146467786 [ dbSNP | Ensembl ].
VAR_032977
Natural varianti1554 – 15541P → L in HPE9. 1 Publication
VAR_032978

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 328328Missing in isoform Alpha, isoform Beta, isoform Delta and isoform Gamma. VSP_035708Add
BLAST
Alternative sequencei394 – 41017Missing in isoform Beta and isoform Delta. VSP_006877Add
BLAST
Alternative sequencei1149 – 11579VSSGTVDAL → ASATWLSGT in isoform Gamma and isoform Delta. VSP_006878
Alternative sequencei1158 – 1586429Missing in isoform Gamma and isoform Delta. VSP_006879Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti456 – 4561H → Q in M20672. 1 Publication
Sequence conflicti718 – 7192QL → HV in BAA03568. 1 Publication
Sequence conflicti718 – 7192QL → HV in BAA03569. 1 Publication
Sequence conflicti923 – 9253PER → AEG in BAA25665. 1 Publication
Sequence conflicti923 – 9253PER → AEG in BAA25667. 1 Publication
Sequence conflicti923 – 9253PER → AEG in BAA25666. 1 Publication
Sequence conflicti923 – 9253PER → AEG in BAA25668. 1 Publication
Sequence conflicti966 – 9661A → T in BAA25665. 1 Publication
Sequence conflicti966 – 9661A → T in BAA25667. 1 Publication
Sequence conflicti966 – 9661A → T in BAA25666. 1 Publication
Sequence conflicti966 – 9661A → T in BAA25668. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB007295 mRNA. Translation: BAA25665.1. Frameshift.
AB007296 mRNA. Translation: BAA25666.1.
AB007297 mRNA. Translation: BAA25667.1. Frameshift.
AB007298 mRNA. Translation: BAA25668.1.
DQ086814 mRNA. Translation: AAY87165.1.
AC016764 Genomic DNA. No translation available.
AC017033 Genomic DNA. No translation available.
D14827 mRNA. Translation: BAA03568.1. Frameshift.
D14828 mRNA. Translation: BAA03569.1. Frameshift.
M20672 Genomic DNA. No translation available.
M20673 Genomic DNA. Translation: AAA35898.1.
CCDSiCCDS33283.1. [P10070-5]
PIRiA31201.
A40679.
B40679.
RefSeqiNP_005261.2. NM_005270.4. [P10070-5]
UniGeneiHs.111867.

Genome annotation databases

EnsembliENST00000314490; ENSP00000312694; ENSG00000074047. [P10070-3]
ENST00000361492; ENSP00000354586; ENSG00000074047. [P10070-5]
ENST00000452319; ENSP00000390436; ENSG00000074047. [P10070-5]
GeneIDi2736.
KEGGihsa:2736.
UCSCiuc002tmq.1. human. [P10070-3]
uc002tmr.1. human. [P10070-4]
uc002tmt.4. human. [P10070-5]
uc002tmu.4. human. [P10070-2]

Polymorphism databases

DMDMi215274258.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB007295 mRNA. Translation: BAA25665.1 . Frameshift.
AB007296 mRNA. Translation: BAA25666.1 .
AB007297 mRNA. Translation: BAA25667.1 . Frameshift.
AB007298 mRNA. Translation: BAA25668.1 .
DQ086814 mRNA. Translation: AAY87165.1 .
AC016764 Genomic DNA. No translation available.
AC017033 Genomic DNA. No translation available.
D14827 mRNA. Translation: BAA03568.1 . Frameshift.
D14828 mRNA. Translation: BAA03569.1 . Frameshift.
M20672 Genomic DNA. No translation available.
M20673 Genomic DNA. Translation: AAA35898.1 .
CCDSi CCDS33283.1. [P10070-5 ]
PIRi A31201.
A40679.
B40679.
RefSeqi NP_005261.2. NM_005270.4. [P10070-5 ]
UniGenei Hs.111867.

3D structure databases

ProteinModelPortali P10070.
SMRi P10070. Positions 436-590.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108998. 7 interactions.
STRINGi 9606.ENSP00000354586.

Chemistry

BindingDBi P10070.
ChEMBLi CHEMBL5119.

PTM databases

PhosphoSitei P10070.

Polymorphism databases

DMDMi 215274258.

Proteomic databases

MaxQBi P10070.
PaxDbi P10070.
PRIDEi P10070.

Protocols and materials databases

DNASUi 2736.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314490 ; ENSP00000312694 ; ENSG00000074047 . [P10070-3 ]
ENST00000361492 ; ENSP00000354586 ; ENSG00000074047 . [P10070-5 ]
ENST00000452319 ; ENSP00000390436 ; ENSG00000074047 . [P10070-5 ]
GeneIDi 2736.
KEGGi hsa:2736.
UCSCi uc002tmq.1. human. [P10070-3 ]
uc002tmr.1. human. [P10070-4 ]
uc002tmt.4. human. [P10070-5 ]
uc002tmu.4. human. [P10070-2 ]

Organism-specific databases

CTDi 2736.
GeneCardsi GC02P121495.
GeneReviewsi GLI2.
HGNCi HGNC:4318. GLI2.
HPAi CAB008558.
MIMi 165230. gene.
610829. phenotype.
neXtProti NX_P10070.
Orphaneti 93925. Alobar holoprosencephaly.
95494. Combined pituitary hormone deficiencies, genetic forms.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA28721.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOVERGENi HBG005844.
KOi K16798.
OMAi SYPQQSH.
OrthoDBi EOG7X6KZ8.
PhylomeDBi P10070.
TreeFami TF350216.

Enzyme and pathway databases

SignaLinki P10070.

Miscellaneous databases

GeneWikii GLI2.
GenomeRNAii 2736.
NextBioi 10784.
PROi P10070.
SOURCEi Search...

Gene expression databases

ArrayExpressi P10070.
Bgeei P10070.
CleanExi HS_GLI2.
Genevestigatori P10070.

Family and domain databases

Gene3Di 3.30.160.60. 5 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF00096. zf-C2H2. 2 hits.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 5 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 4 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of novel isoforms of the human Gli2 oncogene and their activities to enhance tax-dependent transcription of the human T-cell leukemia virus type 1 genome."
    Tanimura A., Dan S., Yoshida M.
    J. Virol. 72:3958-3964(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA; BETA; GAMMA AND DELTA), VARIANTS SER-1156 AND ASN-1306.
  2. "A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2."
    Roessler E., Ermilov A.N., Grange D.K., Wang A., Grachtchouk M., Dlugosz A.A., Muenke M.
    Hum. Mol. Genet. 14:2181-2188(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "A new regulatory element that augments the Tax-dependent enhancer of human T-cell leukemia virus type 1 and cloning of cDNAs encoding its binding proteins."
    Tanimura A., Teshima H., Fujisawa J., Yoshida M.
    J. Virol. 67:5375-5382(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-857 (ISOFORMS ALPHA; BETA; GAMMA AND DELTA).
  5. "The GLI-Kruppel family of human genes."
    Ruppert J.M., Kinzler K.W., Wong A.J., Bigner S.H., Kao F.T., Law M.L., Seuanez H.N., O'Brien S.J., Vogelstein B.
    Mol. Cell. Biol. 8:3104-3113(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 456-560 (ISOFORMS ALPHA; BETA; GAMMA AND DELTA).
  6. "Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features."
    Roessler E., Du Y.-Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., Roeder E.R., Ming J.E., Ruiz i Altaba A., Muenke M.
    Proc. Natl. Acad. Sci. U.S.A. 100:13424-13429(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HPE9.
  7. "Application of active and kinase-deficient kinome collection for identification of kinases regulating hedgehog signaling."
    Varjosalo M., Bjorklund M., Cheng F., Syvanen H., Kivioja T., Kilpinen S., Sun Z., Kallioniemi O., Stunnenberg H.G., He W.W., Ojala P., Taipale J.
    Cell 133:537-548(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PHOSPHORYLATION AT SER-388 AND SER-1011.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-234 AND SER-236, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Identification of a novel serine/threonine kinase ULK3 as a positive regulator of Hedgehog pathway."
    Maloverjan A., Piirsoo M., Michelson P., Kogerman P., Osterlund T.
    Exp. Cell Res. 316:627-637(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-149; SER-234; SER-236 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Gli2 acetylation at lysine 757 regulates hedgehog-dependent transcriptional output by preventing its promoter occupancy."
    Coni S., Antonucci L., D'Amico D., Di Magno L., Infante P., De Smaele E., Giannini G., Di Marcotullio L., Screpanti I., Gulino A., Canettieri G.
    PLoS ONE 8:E65718-E65718(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION AT LYS-757.
  12. "GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?"
    Rahimov F., Ribeiro L.A., de Miranda E., Richieri-Costa A., Murray J.C.
    Am. J. Med. Genet. A 140:2571-2576(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPE9 GLY-479; SER-932; ILE-1444 AND LEU-1554.

Entry informationi

Entry nameiGLI2_HUMAN
AccessioniPrimary (citable) accession number: P10070
Secondary accession number(s): O60252
, O60253, O60254, O60255, Q15590, Q15591, Q4JHT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 153 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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