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Protein

Zinc finger protein GLIS2

Gene

GLIS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri168 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri202 – 229C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri235 – 257C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri263 – 287C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri293 – 317C2H2-type 5PROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processDifferentiation, Neurogenesis, Transcription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SignaLinkiQ9BZE0
SIGNORiQ9BZE0

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000126603.8
HGNCiHGNC:29450 GLIS2
MIMi608539 gene
neXtProtiNX_Q9BZE0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 7 (NPHP7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:611498

Keywords - Diseasei

Ciliopathy, Nephronophthisis

Organism-specific databases

DisGeNETi84662
MalaCardsiGLIS2
MIMi611498 phenotype
OpenTargetsiENSG00000126603
Orphaneti329469 Acute megakaryoblastic leukemia without Down syndrome
93592 Juvenile nephronophthisis
PharmGKBiPA134919876

Polymorphism and mutation databases

BioMutaiGLIS2
DMDMi296434515

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002869831 – 524Zinc finger protein GLIS2Add BLAST524

Post-translational modificationi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei287 – 288CleavageBy similarity2

Proteomic databases

MaxQBiQ9BZE0
PaxDbiQ9BZE0
PeptideAtlasiQ9BZE0
PRIDEiQ9BZE0

PTM databases

iPTMnetiQ9BZE0
PhosphoSitePlusiQ9BZE0

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

BgeeiENSG00000126603
CleanExiHS_GLIS2
GenevisibleiQ9BZE0 HS

Organism-specific databases

HPAiHPA056976

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

Show more details

Protein-protein interaction databases

BioGridi124182, 13 interactors
CORUMiQ9BZE0
IntActiQ9BZE0, 40 interactors
MINTiQ9BZE0
STRINGi9606.ENSP00000262366

Structurei

3D structure databases

ProteinModelPortaliQ9BZE0
SMRiQ9BZE0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni35 – 174Interaction with CTNND1By similarityAdd BLAST140
Regioni71 – 137Transcription activationBy similarityAdd BLAST67
Regioni148 – 171Transcription repressionBy similarityAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi363 – 460Gly-richAdd BLAST98

Domaini

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

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri168 – 193C2H2-type 1PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri202 – 229C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST28
Zinc fingeri235 – 257C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri263 – 287C2H2-type 4PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri293 – 317C2H2-type 5PROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00900000140802
HOGENOMiHOG000065778
HOVERGENiHBG101807
InParanoidiQ9BZE0
KOiK09233
OMAiDKCLSPE
OrthoDBiEOG091G0IZP
PhylomeDBiQ9BZE0
TreeFamiTF351425

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 5 hits
SUPFAMiSSF57667 SSF57667, 3 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

Sequencei

Sequence statusi: Complete.

Q9BZE0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MHSLDEPLDL KLSITKLRAA REKRERTLGV VRPRALHREL GLVDDSPTPG
60 70 80 90 100
SPGSPPSGFL LNSKFPEKVE GRFSAAPLVD LSLSPPSGLD SPNGSSSLSP
110 120 130 140 150
ERQGNGDLPP VPSASDFQPL RYLDGVPSSF QFFLPLGSGG ALHLPASSFL
160 170 180 190 200
TPPKDKCLSP DLPLPKQLVC RWAKCNQLFE LLQDLVDHVN DYHVKPEKDA
210 220 230 240 250
GYCCHWEGCA RHGRGFNARY KMLIHIRTHT NEKPHRCPTC SKSFSRLENL
260 270 280 290 300
KIHNRSHTGE KPYVCPYEGC NKRYSNSSDR FKHTRTHYVD KPYYCKMPGC
310 320 330 340 350
HKRYTDPSSL RKHIKAHGHF VSHEQQELLQ LRPPPKPPLP APDGGPYVSG
360 370 380 390 400
AQIIIPNPAA LFGGPGLPGL PLPLAPGPLD LSALACGNGG GSGGGGGMGP
410 420 430 440 450
GLPGPVLPLN LAKNPLLPSP FGAGGLGLPV VSLLAGAAGG KAEGEKGRGS
460 470 480 490 500
VPTRALGMEG HKTPLERTES SCSRPSPDGL PLLPGTVLDL STGVNSAASS
510 520
PEALAPGWVV IPPGSVLLKP AVVN
Length:524
Mass (Da):55,689
Last modified:May 18, 2010 - v2
Checksum:iF38BA80C477FDC24
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49P → L in AAK00954 (PubMed:11738817).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032256492T → A. Corresponds to variant dbSNP:rs8057701EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001305847.1, NM_001318918.1
NP_115964.2, NM_032575.2
XP_005255698.1, XM_005255641.4
UniGeneiHs.592087

Genome annotation databases

EnsembliENST00000262366; ENSP00000262366; ENSG00000126603
ENST00000433375; ENSP00000395547; ENSG00000126603
ENST00000612491; ENSP00000484027; ENSG00000274636
ENST00000633051; ENSP00000488242; ENSG00000274636
GeneIDi84662
KEGGihsa:84662
UCSCiuc002cwc.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGLIS2_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE0
Secondary accession number(s): B3KX84
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: May 23, 2018
This is version 141 of the entry and version 2 of the sequence. See 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

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