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P10070

- GLI2_HUMAN

UniProt

P10070 - GLI2_HUMAN

Protein

Zinc finger protein GLI2

Gene

GLI2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 4 (25 Nov 2008)
      Previous versions | rss
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    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 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri475 – 49723C2H2-type 2; degeneratePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri503 – 52725C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri533 – 55826C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri564 – 58926C2H2-type 5PROSITE-ProRule annotationAdd
    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

    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. Cytoplasm By similarity
    Note: In keratinocytes, it is sequestered in the cytoplasm by SUFU. In the absence of SUFU, it translocates to the nucleus By similarity.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

    Keywords - Cellular componenti

    Cytoplasm, 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 1491Phosphoserine2 Publications
    Modified residuei234 – 2341Phosphoserine3 Publications
    Modified residuei236 – 2361Phosphoserine3 Publications
    Modified residuei242 – 2421Phosphoserine2 Publications
    Modified residuei388 – 3881Phosphoserine; by DYRK22 Publications
    Modified residuei725 – 7251PhosphothreonineBy similarity
    Modified residuei757 – 7571N6-acetyllysine; by EP3001 Publication
    Modified residuei1011 – 10111Phosphoserine; by DYRK22 Publications

    Post-translational modificationi

    Phosphorylated in vitro by ULK3. Phosphorylated by DYRK2; this inhibits GLI2 transcription factor activity and promotes proteasomal degradation of GLI2.4 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. Interacts with SUFU.By similarity

    Protein-protein interaction databases

    BioGridi108998. 7 interactions.
    STRINGi9606.ENSP00000354586.

    Structurei

    3D structure databases

    ProteinModelPortaliP10070.
    SMRiP10070. Positions 436-590.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

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

    Sequence similaritiesi

    Contains 5 C2H2-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

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

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti456 – 4561H → Q in M20672. (PubMed:2850480)Curated
    Sequence conflicti718 – 7192QL → HV in BAA03568. (PubMed:8350401)Curated
    Sequence conflicti718 – 7192QL → HV in BAA03569. (PubMed:8350401)Curated
    Sequence conflicti923 – 9253PER → AEG in BAA25665. (PubMed:9557682)Curated
    Sequence conflicti923 – 9253PER → AEG in BAA25667. (PubMed:9557682)Curated
    Sequence conflicti923 – 9253PER → AEG in BAA25666. (PubMed:9557682)Curated
    Sequence conflicti923 – 9253PER → AEG in BAA25668. (PubMed:9557682)Curated
    Sequence conflicti966 – 9661A → T in BAA25665. (PubMed:9557682)Curated
    Sequence conflicti966 – 9661A → T in BAA25667. (PubMed:9557682)Curated
    Sequence conflicti966 – 9661A → T in BAA25666. (PubMed:9557682)Curated
    Sequence conflicti966 – 9661A → T in BAA25668. (PubMed:9557682)Curated

    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. 2 PublicationsVSP_035708Add
    BLAST
    Alternative sequencei394 – 41017Missing in isoform Beta and isoform Delta. 2 PublicationsVSP_006877Add
    BLAST
    Alternative sequencei1149 – 11579VSSGTVDAL → ASATWLSGT in isoform Gamma and isoform Delta. 2 PublicationsVSP_006878
    Alternative sequencei1158 – 1586429Missing in isoform Gamma and isoform Delta. 2 PublicationsVSP_006879Add
    BLAST

    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 ]
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    Publicationsi

    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: October 1, 2014
    This is version 154 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

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