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Q9BZE0

- GLIS2_HUMAN

UniProt

Q9BZE0 - GLIS2_HUMAN

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Protein
Zinc finger protein GLIS2
Gene
GLIS2, NKL
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

Sites

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

Regions

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

GO - Molecular functioni

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

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 from RNA polymerase II promoter Source: BHF-UCL
  5. negative regulation of transcription, DNA-templated Source: UniProtKB
  6. nervous system development Source: UniProtKB-KW
  7. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  8. positive regulation of transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 GLIS2
PRO_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 CTNND1.1 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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni35 – 174140Interaction with CTNND1 By similarity
Add
BLAST
Regioni71 – 13767Transcription activation By similarity
Add
BLAST
Regioni148 – 17124Transcription repression By similarity
Add
BLAST

Compositional bias

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

Domaini

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

Sequence similaritiesi

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

« Hide

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

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti49 – 491P → L in AAK00954. 1 Publication

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 107 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

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