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Q9BZE0

- GLIS2_HUMAN

UniProt

Q9BZE0 - GLIS2_HUMAN

Protein

Zinc finger protein GLIS2

Gene

GLIS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway By similarity. Represses the Hedgehog-dependent expression of Wnt4 By similarity. Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition By similarity. Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation By similarity.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei287 – 2882CleavageBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri168 – 19326C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri202 – 22928C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri235 – 25723C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri263 – 28725C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri293 – 31725C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW
    2. protein binding Source: IntAct
    3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: BHF-UCL
    4. transcription regulatory region DNA binding Source: BHF-UCL

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. negative regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    3. negative regulation of smoothened signaling pathway Source: UniProtKB
    4. negative regulation of transcription, DNA-templated Source: UniProtKB
    5. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    6. nervous system development Source: UniProtKB-KW
    7. positive regulation of transcription, DNA-templated Source: UniProtKB
    8. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    SignaLinkiQ9BZE0.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein GLIS2
    Alternative name(s):
    GLI-similar 2
    Neuronal Krueppel-like protein
    Gene namesi
    Name:GLIS2
    Synonyms:NKL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:29450. GLIS2.

    Subcellular locationi

    Nucleus speckle By similarity. Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nuclear speck Source: UniProtKB
    3. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Nephronophthisis 7 (NPHP7) [MIM:611498]: An autosomal recessive disorder resulting in end-stage renal disease during childhood or adolescence. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Nephronophthisis

    Organism-specific databases

    MIMi611498. phenotype.
    Orphaneti329469. Acute megakaryoblastic leukemia without Down syndrome.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBiPA134919876.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 524524Zinc finger protein GLIS2PRO_0000286983Add
    BLAST

    Post-translational modificationi

    C-terminus cleavage is induced by interaction with CTNND1 and enhanced by Src tyrosine kinase.By similarity

    Proteomic databases

    MaxQBiQ9BZE0.
    PaxDbiQ9BZE0.
    PRIDEiQ9BZE0.

    PTM databases

    PhosphoSiteiQ9BZE0.

    Expressioni

    Tissue specificityi

    Expressed at high levels in kidney and at low levels in heart, lung and placenta. Expressed in colon.2 Publications

    Gene expression databases

    ArrayExpressiQ9BZE0.
    BgeeiQ9BZE0.
    CleanExiHS_GLIS2.
    GenevestigatoriQ9BZE0.

    Interactioni

    Subunit structurei

    Interacts with CTBP1 and HDAC3 By similarity. Interacts with CTNNB1 By similarity. Interacts with SUFU By similarity. Interacts with CTNND1.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CTNNB1P352226EBI-7251368,EBI-491549

    Protein-protein interaction databases

    BioGridi124182. 13 interactions.
    IntActiQ9BZE0. 8 interactions.
    MINTiMINT-2816833.
    STRINGi9606.ENSP00000262366.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZE0.
    SMRiQ9BZE0. Positions 170-318.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni35 – 174140Interaction with CTNND1By similarityAdd
    BLAST
    Regioni71 – 13767Transcription activationBy similarityAdd
    BLAST
    Regioni148 – 17124Transcription repressionBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi363 – 46098Gly-richAdd
    BLAST

    Domaini

    The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding.By similarity

    Sequence similaritiesi

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

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri168 – 19326C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri202 – 22928C2H2-type 2; atypicalPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri235 – 25723C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri263 – 28725C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri293 – 31725C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000065778.
    HOVERGENiHBG101807.
    InParanoidiQ9BZE0.
    KOiK09233.
    OMAiDKCLSPE.
    OrthoDBiEOG70CR6P.
    PhylomeDBiQ9BZE0.
    TreeFamiTF351425.

    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. 1 hit.
    [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]

    Sequencei

    Sequence statusi: Complete.

    Q9BZE0-1 [UniParc]FASTAAdd to Basket

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    MHSLDEPLDL KLSITKLRAA REKRERTLGV VRPRALHREL GLVDDSPTPG    50
    SPGSPPSGFL LNSKFPEKVE GRFSAAPLVD LSLSPPSGLD SPNGSSSLSP 100
    ERQGNGDLPP VPSASDFQPL RYLDGVPSSF QFFLPLGSGG ALHLPASSFL 150
    TPPKDKCLSP DLPLPKQLVC RWAKCNQLFE LLQDLVDHVN DYHVKPEKDA 200
    GYCCHWEGCA RHGRGFNARY KMLIHIRTHT NEKPHRCPTC SKSFSRLENL 250
    KIHNRSHTGE KPYVCPYEGC NKRYSNSSDR FKHTRTHYVD KPYYCKMPGC 300
    HKRYTDPSSL RKHIKAHGHF VSHEQQELLQ LRPPPKPPLP APDGGPYVSG 350
    AQIIIPNPAA LFGGPGLPGL PLPLAPGPLD LSALACGNGG GSGGGGGMGP 400
    GLPGPVLPLN LAKNPLLPSP FGAGGLGLPV VSLLAGAAGG KAEGEKGRGS 450
    VPTRALGMEG HKTPLERTES SCSRPSPDGL PLLPGTVLDL STGVNSAASS 500
    PEALAPGWVV IPPGSVLLKP AVVN 524
    Length:524
    Mass (Da):55,689
    Last modified:May 18, 2010 - v2
    Checksum:iF38BA80C477FDC24
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti49 – 491P → L in AAK00954. (PubMed:11738817)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti492 – 4921T → A.
    Corresponds to variant rs8057701 [ dbSNP | Ensembl ].
    VAR_032256

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF325914 mRNA. Translation: AAK00954.1.
    AK126918 mRNA. Translation: BAG54396.1.
    AC005356 Genomic DNA. No translation available.
    AC012676 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85317.1.
    CH471112 Genomic DNA. Translation: EAW85318.1.
    CCDSiCCDS10511.1.
    RefSeqiNP_115964.2. NM_032575.2.
    XP_005255698.1. XM_005255641.2.
    XP_005255699.1. XM_005255642.1.
    XP_006725303.1. XM_006725240.1.
    XP_006725304.1. XM_006725241.1.
    UniGeneiHs.592087.

    Genome annotation databases

    EnsembliENST00000262366; ENSP00000262366; ENSG00000126603.
    ENST00000433375; ENSP00000395547; ENSG00000126603.
    GeneIDi84662.
    KEGGihsa:84662.
    UCSCiuc002cwc.1. human.

    Polymorphism databases

    DMDMi296434515.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF325914 mRNA. Translation: AAK00954.1 .
    AK126918 mRNA. Translation: BAG54396.1 .
    AC005356 Genomic DNA. No translation available.
    AC012676 Genomic DNA. No translation available.
    CH471112 Genomic DNA. Translation: EAW85317.1 .
    CH471112 Genomic DNA. Translation: EAW85318.1 .
    CCDSi CCDS10511.1.
    RefSeqi NP_115964.2. NM_032575.2.
    XP_005255698.1. XM_005255641.2.
    XP_005255699.1. XM_005255642.1.
    XP_006725303.1. XM_006725240.1.
    XP_006725304.1. XM_006725241.1.
    UniGenei Hs.592087.

    3D structure databases

    ProteinModelPortali Q9BZE0.
    SMRi Q9BZE0. Positions 170-318.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124182. 13 interactions.
    IntActi Q9BZE0. 8 interactions.
    MINTi MINT-2816833.
    STRINGi 9606.ENSP00000262366.

    PTM databases

    PhosphoSitei Q9BZE0.

    Polymorphism databases

    DMDMi 296434515.

    Proteomic databases

    MaxQBi Q9BZE0.
    PaxDbi Q9BZE0.
    PRIDEi Q9BZE0.

    Protocols and materials databases

    DNASUi 84662.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262366 ; ENSP00000262366 ; ENSG00000126603 .
    ENST00000433375 ; ENSP00000395547 ; ENSG00000126603 .
    GeneIDi 84662.
    KEGGi hsa:84662.
    UCSCi uc002cwc.1. human.

    Organism-specific databases

    CTDi 84662.
    GeneCardsi GC16P004365.
    HGNCi HGNC:29450. GLIS2.
    MIMi 608539. gene.
    611498. phenotype.
    neXtProti NX_Q9BZE0.
    Orphaneti 329469. Acute megakaryoblastic leukemia without Down syndrome.
    93592. Juvenile autosomal recessive medullary cystic kidney disease.
    PharmGKBi PA134919876.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000065778.
    HOVERGENi HBG101807.
    InParanoidi Q9BZE0.
    KOi K09233.
    OMAi DKCLSPE.
    OrthoDBi EOG70CR6P.
    PhylomeDBi Q9BZE0.
    TreeFami TF351425.

    Enzyme and pathway databases

    SignaLinki Q9BZE0.

    Miscellaneous databases

    ChiTaRSi GLIS2. human.
    GenomeRNAii 84662.
    NextBioi 74642.
    PROi Q9BZE0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZE0.
    Bgeei Q9BZE0.
    CleanExi HS_GLIS2.
    Genevestigatori Q9BZE0.

    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. 1 hit.
    [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

    1. "Genomic structure of the gene encoding the human GLI-related, Kruppel-like zinc finger protein GLIS2."
      Zhang F., Jetten A.M.
      Gene 280:49-57(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Kidney.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Identification of NKL, a novel Gli-Kruppel zinc-finger protein that promotes neuronal differentiation."
      Lamar E., Kintner C., Goulding M.
      Development 128:1335-1346(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.
    6. "The Kruppel-like zinc finger protein Glis2 functions as a negative modulator of the Wnt/beta-catenin signaling pathway."
      Kim Y.-S., Kang H.S., Jetten A.M.
      FEBS Lett. 581:858-864(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    7. "The transcriptional repressor Glis2 is a novel binding partner for p120 catenin."
      Hosking C.R., Ulloa F., Hogan C., Ferber E.C., Figueroa A., Gevaert K., Birchmeier W., Briscoe J., Fujita Y.
      Mol. Biol. Cell 18:1918-1927(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CTNND1.
    8. Cited for: INVOLVEMENT IN NPHP7.

    Entry informationi

    Entry nameiGLIS2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZE0
    Secondary accession number(s): B3KX84
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 108 of the entry and version 2 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 16
      Human chromosome 16: 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