SP3 (Sp3 transcription factor)

1. Identity

Alias_symbol (synonym)
General Information
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 173965702 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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 SP3SP3 2q31.1 / GPR155 2q31.1SP3 2q31.1 / OLA1 2q31.1
SP3 2q31.1 / STK39 2q24.3

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  Soft tissue tumors: an overview
Soft Tissues: Small round cell tumour with t(2;22)(q31;q12) EWSR1/SP3
t(2;2)(q24;q31) SP3/STK39
SP3/GPR155 (2q31)
SP3/OLA1 (2q31)
t(2;8)(q31;q24) SP3/PTK2
t(2;8)(q31;q24) SP3/PTK2

3. 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] &nbspENSG00000172845 [Sequence]  chr2:173906459-173965702 [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  -     chr2:173906459-173965702 -  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] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)6670
GTEX Portal (Tissue expression)SP3
Human Protein AtlasENSG00000172845-SP3 [pathology]   [cell]   [tissue]
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_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)SP3
DMDM Disease mutations6670
Blocks (Seattle)SP3
SuperfamilyQ02447
Human Protein Atlas [tissue]ENSG00000172845-SP3 [tissue]
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 by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  proximal promoter sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  ossification  natural killer cell differentiation  trophectodermal cell differentiation  liver development  embryonic placenta development  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  PML body  transcriptional repressor complex  B cell differentiation  T cell differentiation  megakaryocyte differentiation  monocyte differentiation  lung development  granulocyte differentiation  protein-DNA complex  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 by RNA polymerase II  positive regulation of transcription by RNA polymerase II  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 by RNA polymerase II  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  proximal promoter sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  ossification  natural killer cell differentiation  trophectodermal cell differentiation  liver development  embryonic placenta development  chromatin binding  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  PML body  transcriptional repressor complex  B cell differentiation  T cell differentiation  megakaryocyte differentiation  monocyte differentiation  lung development  granulocyte differentiation  protein-DNA complex  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 by RNA polymerase II  positive regulation of transcription by RNA polymerase II  metal ion binding  embryonic camera-type eye morphogenesis  embryonic skeletal system development  embryonic process involved in female pregnancy  definitive hemopoiesis  
NDEx NetworkSP3
Atlas of Cancer Signalling NetworkSP3
Wikipedia pathwaysSP3
Orthology - Evolution
OrthoDB6670
GeneTree (enSembl)ENSG00000172845
Phylogenetic Trees/Animal Genes : TreeFamSP3
HOGENOMQ02447
Homologs : HomoloGeneSP3
Homology/Alignments : Family Browser (UCSC)SP3
Gene fusions - Rearrangements
Fusion : MitelmanEWSR1/SP3 [22q12.2/2q31.1] &nbsp[t(2;22)(q31;q12)]  
Fusion : MitelmanSP3/GPR155 [2q31.1/2q31.1] &nbsp[t(2;2)(q31;q31)]  
Fusion : MitelmanSP3/OLA1 [2q31.1/2q31.1] &nbsp[t(2;2)(q31;q31)]  
Fusion : MitelmanSP3/PTK2 [2q31.1/8q24.3] &nbsp[t(2;8)(q31;q24)]  
Fusion : MitelmanSP3/STK39 [2q31.1/2q24.3] &nbsp[t(2;2)(q24;q31)]  
Fusion PortalSP3 2q31.1 GPR155 2q31.1 OV
Fusion PortalSP3 2q31.1 OLA1 2q31.1 BRCA
Fusion PortalSP3 2q31.1 STK39 2q24.3 LUSC
Fusion : QuiverSP3
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)ENSG00000172845
GNOMAD BrowserENSG00000172845
Varsome BrowserSP3
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601804   
Orphanet
DisGeNETSP3
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)
DataMed IndexSP3
Probes
Litterature
PubMed200 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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 17 18:39:43 CET 2019

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