Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SIX2 (SIX homeobox 2)

Identity

Alias_namessine oculis homeobox (Drosophila) homolog 2
sine oculis homeobox homolog 2 (Drosophila)
Other alias-
HGNC (Hugo) SIX2
LocusID (NCBI) 10736
Atlas_Id 55221
Location 2p21  [Link to chromosome band 2p21]
Location_base_pair Starts at 45232324 and ends at 45236542 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SIX2 (2p21) / EPB41 (1p35.3)

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

 


External links

Nomenclature
HGNC (Hugo)SIX2   10888
Cards
Entrez_Gene (NCBI)SIX2  10736  SIX homeobox 2
Aliases
GeneCards (Weizmann)SIX2
Ensembl hg19 (Hinxton)ENSG00000170577 [Gene_View]  chr2:45232324-45236542 [Contig_View]  SIX2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170577 [Gene_View]  chr2:45232324-45236542 [Contig_View]  SIX2 [Vega]
ICGC DataPortalENSG00000170577
TCGA cBioPortalSIX2
AceView (NCBI)SIX2
Genatlas (Paris)SIX2
WikiGenes10736
SOURCE (Princeton)SIX2
Genetics Home Reference (NIH)SIX2
Genomic and cartography
GoldenPath hg19 (UCSC)SIX2  -     chr2:45232324-45236542 -  2p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SIX2  -     2p21   [Description]    (hg38-Dec_2013)
EnsemblSIX2 - 2p21 [CytoView hg19]  SIX2 - 2p21 [CytoView hg38]
Mapping of homologs : NCBISIX2 [Mapview hg19]  SIX2 [Mapview hg38]
OMIM604994   
Gene and transcription
Genbank (Entrez)AF136940 AF332196 AF332197 AI299144 AI697804
RefSeq transcript (Entrez)NM_016932
RefSeq genomic (Entrez)NC_000002 NC_018913 NG_009360 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)SIX2
Cluster EST : UnigeneHs.101937 [ NCBI ]
CGAP (NCI)Hs.101937
Alternative Splicing GalleryENSG00000170577
Gene ExpressionSIX2 [ NCBI-GEO ]   SIX2 [ EBI - ARRAY_EXPRESS ]   SIX2 [ SEEK ]   SIX2 [ MEM ]
Gene Expression Viewer (FireBrowse)SIX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10736
GTEX Portal (Tissue expression)SIX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NPC8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NPC8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NPC8
Splice isoforms : SwissVarQ9NPC8
PhosPhoSitePlusQ9NPC8
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    SIX1_SD   
Domain families : Pfam (Sanger)Homeobox (PF00046)    SIX1_SD (PF16878)   
Domain families : Pfam (NCBI)pfam00046    pfam16878   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)SIX2
DMDM Disease mutations10736
Blocks (Seattle)SIX2
SuperfamilyQ9NPC8
Human Protein AtlasENSG00000170577
Peptide AtlasQ9NPC8
HPRD05408
IPIIPI00299333   
Protein Interaction databases
DIP (DOE-UCLA)Q9NPC8
IntAct (EBI)Q9NPC8
FunCoupENSG00000170577
BioGRIDSIX2
STRING (EMBL)SIX2
ZODIACSIX2
Ontologies - Pathways
QuickGOQ9NPC8
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  kidney development  kidney development  chondrocyte differentiation  mesenchymal to epithelial transition involved in metanephros morphogenesis  transcription factor activity, sequence-specific DNA binding  nucleus  nucleoplasm  cytoplasm  plasma membrane  transcription from RNA polymerase II promoter  protein import into nucleus  mesodermal cell fate specification  transcription factor binding  cell proliferation  anatomical structure morphogenesis  anterior/posterior axis specification  cell migration  regulation of ossification  nuclear membrane  regulation of chondrocyte differentiation  protein complex binding  middle ear morphogenesis  negative regulation of cell differentiation  positive regulation of transcription from RNA polymerase II promoter  embryonic digestive tract morphogenesis  embryonic cranial skeleton morphogenesis  nephron development  nephron morphogenesis  mesenchymal stem cell maintenance involved in nephron morphogenesis  mesenchymal cell differentiation involved in kidney development  regulation of branching involved in ureteric bud morphogenesis  mesenchymal stem cell proliferation  positive regulation of chondrocyte proliferation  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  kidney development  kidney development  chondrocyte differentiation  mesenchymal to epithelial transition involved in metanephros morphogenesis  transcription factor activity, sequence-specific DNA binding  nucleus  nucleoplasm  cytoplasm  plasma membrane  transcription from RNA polymerase II promoter  protein import into nucleus  mesodermal cell fate specification  transcription factor binding  cell proliferation  anatomical structure morphogenesis  anterior/posterior axis specification  cell migration  regulation of ossification  nuclear membrane  regulation of chondrocyte differentiation  protein complex binding  middle ear morphogenesis  negative regulation of cell differentiation  positive regulation of transcription from RNA polymerase II promoter  embryonic digestive tract morphogenesis  embryonic cranial skeleton morphogenesis  nephron development  nephron morphogenesis  mesenchymal stem cell maintenance involved in nephron morphogenesis  mesenchymal cell differentiation involved in kidney development  regulation of branching involved in ureteric bud morphogenesis  mesenchymal stem cell proliferation  positive regulation of chondrocyte proliferation  
NDEx NetworkSIX2
Atlas of Cancer Signalling NetworkSIX2
Wikipedia pathwaysSIX2
Orthology - Evolution
OrthoDB10736
GeneTree (enSembl)ENSG00000170577
Phylogenetic Trees/Animal Genes : TreeFamSIX2
HOVERGENQ9NPC8
HOGENOMQ9NPC8
Homologs : HomoloGeneSIX2
Homology/Alignments : Family Browser (UCSC)SIX2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSIX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SIX2
dbVarSIX2
ClinVarSIX2
1000_GenomesSIX2 
Exome Variant ServerSIX2
ExAC (Exome Aggregation Consortium)SIX2 (select the gene name)
Genetic variants : HAPMAP10736
Genomic Variants (DGV)SIX2 [DGVbeta]
DECIPHER (Syndromes)2:45232324-45236542  ENSG00000170577
CONAN: Copy Number AnalysisSIX2 
Mutations
ICGC Data PortalSIX2 
TCGA Data PortalSIX2 
Broad Tumor PortalSIX2
OASIS PortalSIX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSIX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSIX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SIX2
DgiDB (Drug Gene Interaction Database)SIX2
DoCM (Curated mutations)SIX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SIX2 (select a term)
intoGenSIX2
Cancer3DSIX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604994   
Orphanet
MedgenSIX2
Genetic Testing Registry SIX2
NextProtQ9NPC8 [Medical]
TSGene10736
GENETestsSIX2
Huge Navigator SIX2 [HugePedia]
snp3D : Map Gene to Disease10736
BioCentury BCIQSIX2
ClinGenSIX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10736
Chemical/Pharm GKB GenePA35788
Clinical trialSIX2
Miscellaneous
canSAR (ICR)SIX2 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSIX2
EVEXSIX2
GoPubMedSIX2
iHOPSIX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:27:22 CET 2017

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