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Aliases & Descriptionsfor SIX2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions SIX homeobox 21 2 Sine oculis homeobox homolog 22 3 sine oculis homeobox homolog 2 (Drosophila)1 sine oculis homeobox (Drosophila) homolog 21 homeobox protein SIX22
Export aliases for SIX2 gene to outside databases Previous GC identifers: GC02M045231 GC02M045401 GC02M045206 GC02M045143 GC02M045232
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Summariesfor SIX2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SIX2 : This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. (provided by RefSeq) UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8 Function : May be involved in limb tendon and ligament development (By similarity)Gene Wiki entry for SIX2
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Genomic Viewsfor SIX2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SIX2 gene promoter: FAC1 SRF CUTL1 POU2F1 USF1 GCNF-1 GCNF-2 PPAR-gamma1 PPAR-gamma2 GATA-1 Other transcription factors Search SABiosciences Chromatin IP Primers for SIX2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for SIX2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 2p21 Ensembl cytogenetic band: 2p21 HGNC cytogenetic band: 2p21 SIX2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02M044969: view genomic region
(about GC identifiers )
Start:
44,969,941 bp from pter
End:
44,974,159 bp from pter
Size:
4,219 bases
Orientation:
minus strand
1 alternative location : Chr 2- 45,232,343-45,236,543
RefSeq DNA sequence: NC_000002.11 NT_022184.15
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Proteinsfor SIX2 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8 (See
protein sequence )Recommended Name: Homeobox protein SIX2 Size : 291 amino acids; 32286 Da
Subcellular location : Nucleus
Secondary accessions : Q9BXH7Explore the universe of human proteins at neXtProt for SIX2: NX_Q9NPC8 Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_058628.3 ENSEMBL proteins: ENSP00000304502 Human Recombinant Proteins 1 Gene Ontology (GO) cellular component term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table
SIX2 for ontologies About GeneDecksing Antibodies for SIX2: Assays for SIX2:
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Protein
Domains/ Familiesfor SIX2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SIX2 for domains About GeneDecksing 4 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9NPC8 ProtoNet protein and cluster: Q9NPC8
1 Blocks protein family : IPB000047 Lambda and other repressor helix-turn-helix signature UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8 Similarity : Belongs to the SIX/Sine oculis homeobox familySimilarity : Contains 1 homeobox DNA-binding domain
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Gene Functionfor SIX2 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8 Function : May be involved in limb tendon and ligament development (By similarity)
Genatlas biochemistry entry for SIX2 :Drosophila sine oculis homolog SIX2 homeo box encoding gene,expressed in mesenchyme in mouse 4 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003700 sequence-specific DNA binding transcription factor activity
IEA -- GO:0005515 protein binding
IEA -- GO:0030528 transcription regulator activity
IEA -- GO:0043565 sequence-specific DNA binding
IEA --
About this table
SIX2 for ontologies About GeneDecksing Animal Models: 3 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Six2) :
SIX2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor SIX2 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section SABiosciences Pathway-Focused PCR Array including SIX2 : PAHS-083A SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIX2 5/11 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 11 ):
GO ID Qualified GO term Evidence PubMed IDs GO:0001656 metanephros development
IEA -- GO:0001822 kidney development
IMP 18305125 GO:0003337 mesenchymal to epithelial transition involved in metanephros morphogenesis
IEA -- GO:0006355 regulation of transcription, DNA-dependent
IEA -- GO:0006606 protein import into nucleus
IEA --
About this table
SIX2 for ontologies About GeneDecksing
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Drugs & Compoundsfor SIX2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for SIX2
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Transcriptsfor SIX2 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for SIX2 gene: NM_016932.4
Additional cDNA sequence: AF136940.1 AF332196.1 AF332197.1 BC024033.2 BT020100.1 CR595397.1
2 DOTS entries : DT.92417765 DT.92417764
24/35 AceView cDNA sequences (see all 35 ):
BQ071675 BX280822 NM_016932 BC024033 AF332196 AI630789 AF332197 AI697859 AF136940 AA808542 AI697804 CR595397 BG829041 BX347429 BM999458 BM017907 CA413774 AI811914 BX400894 BX341976 BQ944758 AW078611 BU543706 CF619326
highest scoring ESTs for SIX2 :AF136940 AF332196 AF332197 BC024033 BE298099 BE547717 BG829041 BQ071675 BX280822 AI697804 Unigene Cluster for SIX2:
SIX homeobox 2 Hs.101937 [show with all ESTs ] Unigene Representative Sequence: NM_016932 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000303077 (uc002ruo.2 uc002rup.2 )
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Expression for SIX2 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section SIX2 expression in normal and diseased human tissues 1 / 2 / 3
5 probe-sets matching SIX2 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
89148_at2 , 3
U95-E
1
0.75
1.00
1.00
1.00
AI697804
0.60
1.00
0.82
1
206511_s_at2 , 3
U133-A
1
0.73
1.00
--
--
NM_016932
0.60
1.00
0.82
1
206510_at2 , 3
U133-A
1
0.64
1.00
--
--
AF332197
0.80
1.00
0.91
1
206511_s_at2
U133Plus2
1
0.73
1.00
--
--
--
--
--
--
--
206510_at2
U133Plus2
1
0.64
1.00
--
--
--
--
--
--
--
About this table
SIX2 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGAATGTTCT SOURCE GeneReport for Unigene cluster: Hs.101937 UniProtKB/Swiss-Prot: SIX2_HUMAN, Q9NPC8 Tissue specificity : Strongly expressed in skeletal muscle
SABiosciences Expression via Pathway-Focused PCR Array including SIX2 : PAHS-083A
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Orthologsfor SIX2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for SIX2 gene from 5/9 species (see all 9 )
About this table Species with no ortholog for SIX2 ENSEMBL Gene Tree for SIX2 (if available)
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Paralogsfor SIX2 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for SIX2 gene SIX4 2 SIX5 2 SIX6 2 SIX3 2 SIX1 2
SIX2 for paralogs About GeneDecksing
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Genomic Variantsfor SIX2 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 2 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for SIX2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SIX2: --
QIAGEN SeqTarget long-range PCR primers for resequencing SIX2
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Disorders & Mutationsfor SIX2 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SIX2 for disorders About GeneDecksing
OMIM: 604994 Human Gene Mutation Database (HGMD) : SIX2 Export disorders and mutations for SIX2 gene to outside databases
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Medical Newsfor SIX2 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor SIX2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/19 PubMed articles for SIX2 gene, integrated from 7 sources (see all 19 ): (articles sorted by number of sources associating them with SIX2) Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. (PubMed id 10773454) 1 , 2 , 7 Boucher C.A.... Bailey M.E.S. (2000) Familial syndromic esophageal atresia maps to 2p23-p24. (PubMed id 10677303) 1 , 2 Celli J....Brunner H.G. (2000) The six family of homeobox genes in development and cancer. (PubMed id 19055944) 1 Christensen K.L....Ford H.L. (2008) The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease. (PubMed id 18989625) 1 Kumar J.P. (2008) SIX2 and BMP4 mutations associate with anomalous kidney development. (PubMed id 18305125) 1 Weber S.... Burdine R.D. (2008) Six3 and Six6 activity is modulated by members of the groucho family. (PubMed id 12441302) 1 Lopez-Rios J....Bovolenta P. (2003) Molecular interaction and synergistic activation of a promoter by Six, Eya, and Dach proteins mediated through CREB binding protein. (PubMed id 12215533) 1 Ikeda K....Kawakami K. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002) Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome. (PubMed id 11734542) 1 Buller C....Xu P.X. (2001) Identification and expression of six family genes in mouse retina. (PubMed id 8814301) 1 Kawakami K....Saito T. (1996)
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External Searches for SIX2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SIX2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SIX2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SIX2 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for SIX2 gene: Search GeneIP for patents involving SIX2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SIX2 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for SIX2
ELISAs and CLIAs for SIX2
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