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Protein

Zinc finger protein GLI2

Gene

GLI2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Functions as transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as transcriptional activator (PubMed:9557682, PubMed:19878745, PubMed:24311597). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856).By similarity1 Publication6 Publications
Isoform 1, isoform 2, isoform 3 and isoform 4: Act as transcriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNA sequence 5'-GAACCACCCA-3' which is part of the Tax-responsive element (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in the smoothened (SHH) signaling pathway (PubMed:18455992).3 Publications
Isoform 5: Acts as a transcriptional repressor.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri437 – 464C2H2-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri475 – 497C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri503 – 527C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri533 – 558C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri564 – 589C2H2-type 5PROSITE-ProRule annotationAdd BLAST26

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcription
R-HSA-8941284 RUNX2 regulates chondrocyte maturation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P10070

SIGNOR Signaling Network Open Resource

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SIGNORi
P10070

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Zinc finger protein GLI2Curated
Alternative name(s):
GLI family zinc finger protein 2Imported
Tax helper protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GLI2Imported
Synonyms:THP1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000074047.20

Human Gene Nomenclature Database

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HGNCi
HGNC:4318 GLI2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
165230 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P10070

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

Cell projection, Cilium, Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Holoprosencephaly 9 (HPE9)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610829
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_032975479R → G in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121917708EnsemblClinVar.1
Natural variantiVAR_032976932P → S in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1272759660Ensembl.1
Natural variantiVAR_0329781554P → L in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767802807Ensembl.1
Culler-Jones syndrome (CJS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.
See also OMIM:615849
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075214516R → P in CJS; loss of DNA-binding; loss of transcription factor activity. 1 Publication1
Natural variantiVAR_071700608P → L in CJS. 1 PublicationCorresponds to variant dbSNP:rs149800897Ensembl.1
Natural variantiVAR_0752151352M → V in CJS; associated with N-1520; unknown pathological significance; decreased transcription factor activity when associated with N-1520. 1 PublicationCorresponds to variant dbSNP:rs149140724EnsemblClinVar.1
Natural variantiVAR_0752161444 – 1445ML → IF in CJS; unknown pathological significance; decreased transcription factor activity. 1 Publication2
Natural variantiVAR_0752171520D → N in CJS; associated with V-1352; unknown pathological significance; decreased transcription factor activity when associated with V-1352. 1 PublicationCorresponds to variant dbSNP:rs114814747EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

DisGeNET

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DisGeNETi
2736

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
GLI2

MalaCards human disease database

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MalaCardsi
GLI2
MIMi610829 phenotype
615849 phenotype

Open Targets

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OpenTargetsi
ENSG00000074047

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
93925 Alobar holoprosencephaly
95494 Combined pituitary hormone deficiencies, genetic forms
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28721

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5119

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GLI2

Domain mapping of disease mutations (DMDM)

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DMDMi
215274258

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003540501 – 1586Zinc finger protein GLI2Add BLAST1586

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei149PhosphoserineCombined sources1
Modified residuei234PhosphoserineCombined sources1
Modified residuei236PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei388Phosphoserine; by DYRK21 Publication1
Modified residuei725PhosphothreonineBy similarity1
Modified residuei757N6-acetyllysine; by EP3001 Publication1
Modified residuei1011Phosphoserine; by DYRK21 Publication1
Isoform 2 (identifier: P10070-2)
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki50Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 4 (identifier: P10070-4)
Cross-linki50Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P10070

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P10070

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P10070

PeptideAtlas

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PeptideAtlasi
P10070

PRoteomics IDEntifications database

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PRIDEi
P10070

ProteomicsDB human proteome resource

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ProteomicsDBi
52552
52553 [P10070-1]
52554 [P10070-2]
52555 [P10070-3]
52556 [P10070-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P10070

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P10070

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in breast cancers (at protein level) (PubMed:26565916). Isoform 1 and isoform 4 are expressed in HTLV-1-infected T-cell lines (at protein level) (PubMed:9557682). Isoform 1 and isoform 2 are strongly expressed in HTLV-1-infected T-cell lines (PubMed:9557682). Isoform 3 and isoform 4 are weakly expressed in HTLV-1-infected T-cell lines (PubMed:9557682).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000074047 Expressed in 185 organ(s), highest expression level in female gonad

CleanEx database of gene expression profiles

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CleanExi
HS_GLI2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P10070 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P10070 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB008558
HPA074275

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interaction with ZIC1 and ZIC2 (By similarity). Interacts with STK36 (PubMed:10806483). Interacts with SUFU; this inhibits transcriptional activation mediated by GLI2 (PubMed:24311597). Interacts (via C-terminal internal region) with FOXC1 (via N-terminus); this interaction is direct and increases GLI2 DNA-binding and transcriptional activity through a smoothened (SMO)-independent Hedgehog (Hh) signaling pathway (PubMed:26565916).By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108998, 14 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-148 GLI2-SUFU complex

Protein interaction database and analysis system

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IntActi
P10070, 6 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354586

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P10070

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P10070

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P10070

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi789 – 876Ser-richAdd BLAST88

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal domain confers transcriptional repressor activity, while the C-terminal domain mediates transcriptional activation.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri437 – 464C2H2-type 1PROSITE-ProRule annotationAdd BLAST28
Zinc fingeri475 – 497C2H2-type 2; degeneratePROSITE-ProRule annotationAdd BLAST23
Zinc fingeri503 – 527C2H2-type 3PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri533 – 558C2H2-type 4PROSITE-ProRule annotationAdd BLAST26
Zinc fingeri564 – 589C2H2-type 5PROSITE-ProRule annotationAdd BLAST26

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1721 Eukaryota
COG5048 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159213

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005844

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P10070

KEGG Orthology (KO)

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KOi
K16798

Identification of Orthologs from Complete Genome Data

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OMAi
VVQYIKS

Database of Orthologous Groups

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OrthoDBi
56870at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P10070

TreeFam database of animal gene trees

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TreeFami
TF350216

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

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Pfami
View protein in Pfam
PF00096 zf-C2H2, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 5 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 3 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 4 hits
PS50157 ZINC_FINGER_C2H2_2, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 5 (identifier: P10070-5) [UniParc]FASTAAdd to basket
Also known as: GLI21 Publication

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.

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        10         20         30         40         50
METSASATAS EKQEAKSGIL EAAGFPDPGK KASPLVVAAA AAAAVAAQGV
60 70 80 90 100
PQHLLPPFHA PLPIDMRHQE GRYHYEPHSV HGVHGPPALS GSPVISDISL
110 120 130 140 150
IRLSPHPAGP GESPFNAPHP YVNPHMEHYL RSVHSSPTLS MISAARGLSP
160 170 180 190 200
ADVAQEHLKE RGLFGLPAPG TTPSDYYHQM TLVAGHPAPY GDLLMQSGGA
210 220 230 240 250
ASAPHLHDYL NPVDVSRFSS PRVTPRLSRK RALSISPLSD ASLDLQRMIR
260 270 280 290 300
TSPNSLVAYI NNSRSSSAAS GSYGHLSAGA LSPAFTFPHP INPVAYQQIL
310 320 330 340 350
SQQRGLGSAF GHTPPLIQPS PTFLAQQPMA LTSINATPTQ LSSSSNCLSD
360 370 380 390 400
TNQNKQSSES AVSSTVNPVA IHKRSKVKTE PEGLRPASPL ALTQGQVSGH
410 420 430 440 450
GSCGCALPLS QEQLADLKED LDRDDCKQEA EVVIYETNCH WEDCTKEYDT
460 470 480 490 500
QEQLVHHINN EHIHGEKKEF VCRWQACTRE QKPFKAQYML VVHMRRHTGE
510 520 530 540 550
KPHKCTFEGC SKAYSRLENL KTHLRSHTGE KPYVCEHEGC NKAFSNASDR
560 570 580 590 600
AKHQNRTHSN EKPYICKIPG CTKRYTDPSS LRKHVKTVHG PDAHVTKKQR
610 620 630 640 650
NDVHLRTPLL KENGDSEAGT EPGGPESTEA SSTSQAVEDC LHVRAIKTES
660 670 680 690 700
SGLCQSSPGA QSSCSSEPSP LGSAPNNDSG VEMPGTGPGS LGDLTALDDT
710 720 730 740 750
PPGADTSALA APSAGGLQLR KHMTTMHRFE QLKKEKLKSL KDSCSWAGPT
760 770 780 790 800
PHTRNTKLPP LPGSGSILEN FSGSGGGGPA GLLPNPRLSE LSASEVTMLS
810 820 830 840 850
QLQERRDSST STVSSAYTVS RRSSGISPYF SSRRSSEASP LGAGRPHNAS
860 870 880 890 900
SADSYDPIST DASRRSSEAS QCSGGSGLLN LTPAQQYSLR AKYAAATGGP
910 920 930 940 950
PPTPLPGLER MSLRTRLALL DAPERTLPAG CPRPLGPRRG SDGPTYGHGH
960 970 980 990 1000
AGAAPAFPHE APGGGARRAS DPVRRPDALS LPRVQRFHST HNVNPGPLPP
1010 1020 1030 1040 1050
CADRRGLRLQ SHPSTDGGLA RGAYSPRPPS ISENVAMEAV AAGVDGAGPE
1060 1070 1080 1090 1100
ADLGLPEDDL VLPDDVVQYI KAHASGALDE GTGQVYPTES TGFSDNPRLP
1110 1120 1130 1140 1150
SPGLHGQRRM VAADSNVGPS APMLGGCQLG FGAPSSLNKN NMPVQWNEVS
1160 1170 1180 1190 1200
SGTVDALASQ VKPPPFPQGN LAVVQQKPAF GQYPGYSPQG LQASPGGLDS
1210 1220 1230 1240 1250
TQPHLQPRSG APSQGIPRVN YMQQLRQPVA GSQCPGMTTT MSPHACYGQV
1260 1270 1280 1290 1300
HPQLSPSTIS GALNQFPQSC SNMPAKPGHL GHPQQTEVAP DPTTMGNRHR
1310 1320 1330 1340 1350
ELGVPDSALA GVPPPHPVQS YPQQSHHLAA SMSQEGYHQV PSLLPARQPG
1360 1370 1380 1390 1400
FMEPQTGPMG VATAGFGLVQ PRPPLEPSPT GRHRGVRAVQ QQLAYARATG
1410 1420 1430 1440 1450
HAMAAMPSSQ ETAEAVPKGA MGNMGSVPPQ PPPQDAGGAP DHSMLYYYGQ
1460 1470 1480 1490 1500
IHMYEQDGGL ENLGSCQVMR SQPPQPQACQ DSIQPQPLPS PGVNQVSSTV
1510 1520 1530 1540 1550
DSQLLEAPQI DFDAIMDDGD HSSLFSGALS PSLLHSLSQN SSRLTTPRNS
1560 1570 1580
LTLPSIPAGI SNMAVGDMSS MLTSLAEESK FLNMMT
Length:1,586
Mass (Da):167,783
Last modified:November 25, 2008 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i86556112E13DE106
GO
Isoform 1 (identifier: P10070-1) [UniParc]FASTAAdd to basket
Also known as: Alpha, GLI2star, GLI2deltaN2 Publications

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 2 (identifier: P10070-2) [UniParc]FASTAAdd to basket
Also known as: Beta1 Publication

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 3 (identifier: P10070-3) [UniParc]FASTAAdd to basket
Also known as: Gamma1 Publication

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 4 (identifier: P10070-4) [UniParc]FASTAAdd to basket
Also known as: Delta1 Publication

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q1PSW9Q1PSW9_HUMAN
GLI2 transcription factor
GLI2
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YG23H0YG23_HUMAN
Zinc finger protein GLI2
GLI2
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1U2H7C1U2_HUMAN
Zinc finger protein GLI2
GLI2
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z2B4F2Z2B4_HUMAN
Zinc finger protein GLI2
GLI2
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti456H → Q in M20672 (PubMed:2850480).Curated1
Sequence conflicti718 – 719QL → HV in BAA03568 (PubMed:8350401).Curated2
Sequence conflicti718 – 719QL → HV in BAA03569 (PubMed:8350401).Curated2
Sequence conflicti923 – 925PER → AEG in BAA25665 (PubMed:9557682).Curated3
Sequence conflicti923 – 925PER → AEG in BAA25667 (PubMed:9557682).Curated3
Sequence conflicti923 – 925PER → AEG in BAA25666 (PubMed:9557682).Curated3
Sequence conflicti923 – 925PER → AEG in BAA25668 (PubMed:9557682).Curated3
Sequence conflicti966A → T in BAA25665 (PubMed:9557682).Curated1
Sequence conflicti966A → T in BAA25667 (PubMed:9557682).Curated1
Sequence conflicti966A → T in BAA25666 (PubMed:9557682).Curated1
Sequence conflicti966A → T in BAA25668 (PubMed:9557682).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047303449D → H. Corresponds to variant dbSNP:rs13427953Ensembl.1
Natural variantiVAR_032975479R → G in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121917708EnsemblClinVar.1
Natural variantiVAR_075214516R → P in CJS; loss of DNA-binding; loss of transcription factor activity. 1 Publication1
Natural variantiVAR_047304579S → I. Corresponds to variant dbSNP:rs12618388Ensembl.1
Natural variantiVAR_071700608P → L in CJS. 1 PublicationCorresponds to variant dbSNP:rs149800897Ensembl.1
Natural variantiVAR_047305625P → S. Corresponds to variant dbSNP:rs3099537Ensembl.1
Natural variantiVAR_032976932P → S in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1272759660Ensembl.1
Natural variantiVAR_0473061156A → S1 PublicationCorresponds to variant dbSNP:rs3738880EnsemblClinVar.1
Natural variantiVAR_0473071306D → N1 PublicationCorresponds to variant dbSNP:rs12711538EnsemblClinVar.1
Natural variantiVAR_0752151352M → V in CJS; associated with N-1520; unknown pathological significance; decreased transcription factor activity when associated with N-1520. 1 PublicationCorresponds to variant dbSNP:rs149140724EnsemblClinVar.1
Natural variantiVAR_0752161444 – 1445ML → IF in CJS; unknown pathological significance; decreased transcription factor activity. 1 Publication2
Natural variantiVAR_0329771444M → I2 PublicationsCorresponds to variant dbSNP:rs146467786EnsemblClinVar.1
Natural variantiVAR_0752171520D → N in CJS; associated with V-1352; unknown pathological significance; decreased transcription factor activity when associated with V-1352. 1 PublicationCorresponds to variant dbSNP:rs114814747EnsemblClinVar.1
Natural variantiVAR_0752181543R → H Polymorphism; no effect on transcription factor activity. 1 PublicationCorresponds to variant dbSNP:rs138987487EnsemblClinVar.1
Natural variantiVAR_0329781554P → L in HPE9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767802807Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0357081 – 328Missing in isoform 1, isoform 2, isoform 3 and isoform 4. 2 PublicationsAdd BLAST328
Alternative sequenceiVSP_006877394 – 410Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST17
Alternative sequenceiVSP_0068781149 – 1157VSSGTVDAL → ASATWLSGT in isoform 3 and isoform 4. 2 Publications9
Alternative sequenceiVSP_0068791158 – 1586Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST429

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33283.1 [P10070-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
A31201
A40679
B40679

NCBI Reference Sequences

More...
RefSeqi
NP_005261.2, NM_005270.4 [P10070-5]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.111867

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361492; ENSP00000354586; ENSG00000074047 [P10070-5]
ENST00000452319; ENSP00000390436; ENSG00000074047 [P10070-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2736

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2736

UCSC genome browser

More...
UCSCi
uc010flp.4 human [P10070-5]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliP10070
SMRiP10070
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108998, 14 interactors
ComplexPortaliCPX-148 GLI2-SUFU complex
IntActiP10070, 6 interactors
STRINGi9606.ENSP00000354586

Chemistry databases

BindingDBiP10070
ChEMBLiCHEMBL5119

PTM databases

iPTMnetiP10070
PhosphoSitePlusiP10070

Polymorphism and mutation databases

BioMutaiGLI2
DMDMi215274258

Proteomic databases

EPDiP10070
jPOSTiP10070
PaxDbiP10070
PeptideAtlasiP10070
PRIDEiP10070
ProteomicsDBi52552
52553 [P10070-1]
52554 [P10070-2]
52555 [P10070-3]
52556 [P10070-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2736
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361492; ENSP00000354586; ENSG00000074047 [P10070-5]
ENST00000452319; ENSP00000390436; ENSG00000074047 [P10070-5]
GeneIDi2736
KEGGihsa:2736
UCSCiuc010flp.4 human [P10070-5]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2736
DisGeNETi2736
EuPathDBiHostDB:ENSG00000074047.20

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GLI2
GeneReviewsiGLI2
HGNCiHGNC:4318 GLI2
HPAiCAB008558
HPA074275
MalaCardsiGLI2
MIMi165230 gene
610829 phenotype
615849 phenotype
neXtProtiNX_P10070
OpenTargetsiENSG00000074047
Orphaneti93925 Alobar holoprosencephaly
95494 Combined pituitary hormone deficiencies, genetic forms
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA28721

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00940000159213
HOVERGENiHBG005844
InParanoidiP10070
KOiK16798
OMAiVVQYIKS
OrthoDBi56870at2759
PhylomeDBiP10070
TreeFamiTF350216

Enzyme and pathway databases

ReactomeiR-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635851 GLI proteins bind promoters of Hh responsive genes to promote transcription
R-HSA-8941284 RUNX2 regulates chondrocyte maturation
SignaLinkiP10070
SIGNORiP10070

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GLI2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GLI2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2736

Protein Ontology

More...
PROi
PR:P10070

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000074047 Expressed in 185 organ(s), highest expression level in female gonad
CleanExiHS_GLI2
ExpressionAtlasiP10070 baseline and differential
GenevisibleiP10070 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 4 hits
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGLI2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P10070
Secondary accession number(s): O60252
, O60253, O60254, O60255, Q15590, Q15591, Q4JHT4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: November 25, 2008
Last modified: January 16, 2019
This is version 199 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
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