Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SIX3 (SIX homeobox 3)

Identity

Other namesHPE2
HGNC (Hugo) SIX3
LocusID (NCBI) 6496
Atlas_Id 45571
Location 2p21
Location_base_pair Starts at 45169037 and ends at 45173216 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SIX3 (2p21) / SIX3 (2p21)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;13)(p12;q21) PAX5/DACH1

External links

Nomenclature
HGNC (Hugo)SIX3   10889
Cards
Entrez_Gene (NCBI)SIX3  6496  SIX homeobox 3
GeneCards (Weizmann)SIX3
Ensembl hg19 (Hinxton)ENSG00000138083 [Gene_View]  chr2:45169037-45173216 [Contig_View]  SIX3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000138083 [Gene_View]  chr2:45169037-45173216 [Contig_View]  SIX3 [Vega]
ICGC DataPortalENSG00000138083
TCGA cBioPortalSIX3
AceView (NCBI)SIX3
Genatlas (Paris)SIX3
WikiGenes6496
SOURCE (Princeton)SIX3
Genomic and cartography
GoldenPath hg19 (UCSC)SIX3  -     chr2:45169037-45173216 +  2p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SIX3  -     2p21   [Description]    (hg38-Dec_2013)
EnsemblSIX3 - 2p21 [CytoView hg19]  SIX3 - 2p21 [CytoView hg38]
Mapping of homologs : NCBISIX3 [Mapview hg19]  SIX3 [Mapview hg38]
OMIM157170   269160   603714   
Gene and transcription
Genbank (Entrez)AJ012611 AL162671 BC030289 BC153026 BF569811
RefSeq transcript (Entrez)NM_005413
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_016222 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)SIX3
Cluster EST : UnigeneHs.567336 [ NCBI ]
CGAP (NCI)Hs.567336
Alternative Splicing GalleryENSG00000138083
Gene ExpressionSIX3 [ NCBI-GEO ]   SIX3 [ EBI - ARRAY_EXPRESS ]   SIX3 [ SEEK ]   SIX3 [ MEM ]
Gene Expression Viewer (FireBrowse)SIX3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6496
GTEX Portal (Tissue expression)SIX3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95343 (Uniprot)
NextProtO95343  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95343
Splice isoforms : SwissVarO95343 (Swissvar)
PhosPhoSitePlusO95343
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_dom    Homeodomain-like    SIX1_SD    SIX3   
Domain families : Pfam (Sanger)Homeobox (PF00046)    SIX1_SD (PF16878)   
Domain families : Pfam (NCBI)pfam00046    pfam16878   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM Disease mutations6496
Blocks (Seattle)SIX3
SuperfamilyO95343
Human Protein AtlasENSG00000138083
Peptide AtlasO95343
HPRD04756
IPIIPI00030013   
Protein Interaction databases
DIP (DOE-UCLA)O95343
IntAct (EBI)O95343
FunCoupENSG00000138083
BioGRIDSIX3
STRING (EMBL)SIX3
ZODIACSIX3
Ontologies - Pathways
QuickGOO95343
Ontology : AmiGOprotein import into nucleus, translocation  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor binding  eye development  epithelial cell maturation  lens development in camera-type eye  optic vesicle morphogenesis  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  brain development  visual perception  proximal/distal axis specification  neuroblast differentiation  telencephalon development  forebrain anterior/posterior pattern specification  forebrain dorsal/ventral pattern formation  cell proliferation in forebrain  telencephalon regionalization  pituitary gland development  negative regulation of Wnt signaling pathway  regulation of cell proliferation  histone deacetylase binding  negative regulation of neuron differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  circadian behavior  lens induction in camera-type eye  regulation of neural retina development  lens fiber cell differentiation  neuroblast migration  regulation of cell cycle phase transition  regulation of neuroblast proliferation  apoptotic process involved in development  lens fiber cell apoptotic process  regulation of neural precursor cell proliferation  
Ontology : EGO-EBIprotein import into nucleus, translocation  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  transcription corepressor binding  eye development  epithelial cell maturation  lens development in camera-type eye  optic vesicle morphogenesis  transcription factor activity, sequence-specific DNA binding  transcription coactivator activity  protein binding  nucleus  transcription from RNA polymerase II promoter  brain development  visual perception  proximal/distal axis specification  neuroblast differentiation  telencephalon development  forebrain anterior/posterior pattern specification  forebrain dorsal/ventral pattern formation  cell proliferation in forebrain  telencephalon regionalization  pituitary gland development  negative regulation of Wnt signaling pathway  regulation of cell proliferation  histone deacetylase binding  negative regulation of neuron differentiation  negative regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  circadian behavior  lens induction in camera-type eye  regulation of neural retina development  lens fiber cell differentiation  neuroblast migration  regulation of cell cycle phase transition  regulation of neuroblast proliferation  apoptotic process involved in development  lens fiber cell apoptotic process  regulation of neural precursor cell proliferation  
NDEx Network
Atlas of Cancer Signalling NetworkSIX3
Wikipedia pathwaysSIX3
Orthology - Evolution
OrthoDB6496
GeneTree (enSembl)ENSG00000138083
Phylogenetic Trees/Animal Genes : TreeFamSIX3
Homologs : HomoloGeneSIX3
Homology/Alignments : Family Browser (UCSC)SIX3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSIX3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIX3
dbVarSIX3
ClinVarSIX3
1000_GenomesSIX3 
Exome Variant ServerSIX3
ExAC (Exome Aggregation Consortium)SIX3 (select the gene name)
Genetic variants : HAPMAP6496
Genomic Variants (DGV)SIX3 [DGVbeta]
Mutations
ICGC Data PortalSIX3 
TCGA Data PortalSIX3 
Broad Tumor PortalSIX3
OASIS PortalSIX3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIX3 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SIX3
DgiDB (Drug Gene Interaction Database)SIX3
DoCM (Curated mutations)SIX3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIX3 (select a term)
intoGenSIX3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:45169037-45173216  ENSG00000138083
CONAN: Copy Number AnalysisSIX3 
Mutations and Diseases : HGMDSIX3
OMIM157170    269160    603714   
MedgenSIX3
Genetic Testing Registry SIX3
NextProtO95343 [Medical]
TSGene6496
GENETestsSIX3
Huge Navigator SIX3 [HugePedia]
snp3D : Map Gene to Disease6496
BioCentury BCIQSIX3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6496
Chemical/Pharm GKB GenePA35789
Clinical trialSIX3
Miscellaneous
canSAR (ICR)SIX3 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIX3
EVEXSIX3
GoPubMedSIX3
iHOPSIX3
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 : Sun May 8 19:05:46 CEST 2016

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