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SP3 (Sp3 transcription factor)

Identity

Alias_symbol (synonym)SPR-2
Other aliasSPR2
HGNC (Hugo) SP3
LocusID (NCBI) 6670
Atlas_Id 44016
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 173906459 and ends at 173964219 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CDKL4 (2p22.1) / SP3 (2q31.1)EFHD2 (1p36.21) / SP3 (2q31.1)EWSR1 (22q12.2) / SP3 (2q31.1)
SP3 (2q31.1) / AFTPH (2p14)SP3 (2q31.1) / GPR155 (2q31.1)SP3 (2q31.1) / OLA1 (2q31.1)
SP3 (2q31.1) / PTK2 (8q24.3)SP3 (2q31.1) / STK39 (2q24.3)SP3 (2q31.1) / TRPM3 (9q21.12)
EWSR1 22q12.2 / SP3 2q31.1SP3 2q31.1 / GPR155 2q31.1SP3 2q31.1 / OLA1 2q31.1
SP3 2q31.1 / STK39 2q24.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Soft tissue tumors: an overview
Soft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3


External links

Nomenclature
HGNC (Hugo)SP3   11208
Cards
Entrez_Gene (NCBI)SP3  6670  Sp3 transcription factor
AliasesSPR2
GeneCards (Weizmann)SP3
Ensembl hg19 (Hinxton)ENSG00000172845 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172845 [Gene_View]  chr2:173906459-173964219 [Contig_View]  SP3 [Vega]
ICGC DataPortalENSG00000172845
TCGA cBioPortalSP3
AceView (NCBI)SP3
Genatlas (Paris)SP3
WikiGenes6670
SOURCE (Princeton)SP3
Genetics Home Reference (NIH)SP3
Genomic and cartography
GoldenPath hg38 (UCSC)SP3  -     chr2:173906459-173964219 -  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SP3  -     2q31.1   [Description]    (hg19-Feb_2009)
EnsemblSP3 - 2q31.1 [CytoView hg19]  SP3 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBISP3 [Mapview hg19]  SP3 [Mapview hg38]
OMIM601804   
Gene and transcription
Genbank (Entrez)AA706229 AB209334 AJ310752 AJ430844 AK304199
RefSeq transcript (Entrez)NM_001017371 NM_001172712 NM_003111
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SP3
Cluster EST : UnigeneHs.531587 [ NCBI ]
CGAP (NCI)Hs.531587
Alternative Splicing GalleryENSG00000172845
Gene ExpressionSP3 [ NCBI-GEO ]   SP3 [ EBI - ARRAY_EXPRESS ]   SP3 [ SEEK ]   SP3 [ MEM ]
Gene Expression Viewer (FireBrowse)SP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6670
GTEX Portal (Tissue expression)SP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ02447   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ02447  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ02447
Splice isoforms : SwissVarQ02447
PhosPhoSitePlusQ02447
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)SP3    Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)zf-C2H2 (PF00096)   
Domain families : Pfam (NCBI)pfam00096   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)SP3
DMDM Disease mutations6670
Blocks (Seattle)SP3
SuperfamilyQ02447
Human Protein AtlasENSG00000172845
Peptide AtlasQ02447
HPRD03483
IPIIPI00025807   IPI00852622   IPI01014738   IPI00852778   IPI00555936   IPI00853503   
Protein Interaction databases
DIP (DOE-UCLA)Q02447
IntAct (EBI)Q02447
FunCoupENSG00000172845
BioGRIDSP3
STRING (EMBL)SP3
ZODIACSP3
Ontologies - Pathways
QuickGOQ02447
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  ossification  natural killer cell differentiation  trophectodermal cell differentiation  liver development  embryonic placenta development  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  PML body  protein sumoylation  transcriptional repressor complex  B cell differentiation  T cell differentiation  megakaryocyte differentiation  monocyte differentiation  lung development  granulocyte differentiation  enucleate erythrocyte differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  embryonic camera-type eye morphogenesis  embryonic skeletal system development  embryonic process involved in female pregnancy  definitive hemopoiesis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  ossification  natural killer cell differentiation  trophectodermal cell differentiation  liver development  embryonic placenta development  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  PML body  protein sumoylation  transcriptional repressor complex  B cell differentiation  T cell differentiation  megakaryocyte differentiation  monocyte differentiation  lung development  granulocyte differentiation  enucleate erythrocyte differentiation  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  embryonic camera-type eye morphogenesis  embryonic skeletal system development  embryonic process involved in female pregnancy  definitive hemopoiesis  
Pathways : BIOCARTAEffects of calcineurin in Keratinocyte Differentiation [Genes]    Overview of telomerase RNA component gene hTerc Transcriptional Regulation [Genes]    Overview of telomerase protein component gene hTert Transcriptional Regulation [Genes]   
NDEx NetworkSP3
Atlas of Cancer Signalling NetworkSP3
Wikipedia pathwaysSP3
Orthology - Evolution
OrthoDB6670
GeneTree (enSembl)ENSG00000172845
Phylogenetic Trees/Animal Genes : TreeFamSP3
HOVERGENQ02447
HOGENOMQ02447
Homologs : HomoloGeneSP3
Homology/Alignments : Family Browser (UCSC)SP3
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/SP3 [22q12.2/2q31.1]  [t(2;22)(q31;q12)]  
Fusion : MitelmanSP3/GPR155 [2q31.1/2q31.1]  [t(2;2)(q31;q31)]  
Fusion : MitelmanSP3/OLA1 [2q31.1/2q31.1]  [t(2;2)(q31;q31)]  
Fusion : MitelmanSP3/PTK2 [2q31.1/8q24.3]  [t(2;8)(q31;q24)]  
Fusion : MitelmanSP3/STK39 [2q31.1/2q24.3]  [t(2;2)(q24;q31)]  
Fusion: TCGASP3 2q31.1 GPR155 2q31.1 OV
Fusion: TCGASP3 2q31.1 OLA1 2q31.1 BRCA
Fusion: TCGASP3 2q31.1 STK39 2q24.3 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SP3
dbVarSP3
ClinVarSP3
1000_GenomesSP3 
Exome Variant ServerSP3
ExAC (Exome Aggregation Consortium)SP3 (select the gene name)
Genetic variants : HAPMAP6670
Genomic Variants (DGV)SP3 [DGVbeta]
DECIPHERSP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSP3 
Mutations
ICGC Data PortalSP3 
TCGA Data PortalSP3 
Broad Tumor PortalSP3
OASIS PortalSP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SP3
DgiDB (Drug Gene Interaction Database)SP3
DoCM (Curated mutations)SP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SP3 (select a term)
intoGenSP3
Cancer3DSP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601804   
Orphanet
MedgenSP3
Genetic Testing Registry SP3
NextProtQ02447 [Medical]
TSGene6670
GENETestsSP3
Target ValidationSP3
Huge Navigator SP3 [HugePedia]
snp3D : Map Gene to Disease6670
BioCentury BCIQSP3
ClinGenSP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6670
Chemical/Pharm GKB GenePA36045
Clinical trialSP3
Miscellaneous
canSAR (ICR)SP3 (select the gene name)
Probes
Litterature
PubMed191 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSP3
EVEXSP3
GoPubMedSP3
iHOPSP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:08:13 CEST 2017

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