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Aliases & Descriptions for SIM2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase , and/or 9 Nature :405,311-319 and CroW21)About This Section
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Aliases MGC119447 1 , 2 SIM 2 bHLHe15 1 , 2
Descriptions human transcription factor SIM2, homolog of the Drosophila single-minded gene SIM1 9 single-minded (Drosophila) homolog 2 1 single-minded homolog 2 2 single-minded homolog 2 (Drosophila) 2 single-minded homolog 2, short isoform 2 transcription factor SIM2 2
Search outside databases for aliases for SIM2 genePrevious GC identifers: GC21P034649 GC21P036991 GC21P036992
Summaries for SIM2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SIM2 : SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim geneencodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 mapswithin the so-called Down syndrome chromosomal region. Based on the mapping position, itspotential function as transcriptional repressor and similarity to Drosophila sim, it is proposedthat SIM2 may contribute to some specific Down syndrome phenotypes [provided by RefSeq] UniProtKB/Swiss-Prot: SIM2_HUMAN, Q14190 Function : Transcription factor that may be a master gene of CNS development in cooperation withArnt. It may have pleiotropic effects in the tissues expressed during development
Gene Wiki entry for SIM2
Genomic Location for SIM2
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences , Whole Chromsome Sequence According to
Nature (Cited Here with Permission) :405,311-319 and CroW21)About This Section
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GC21P036993:
GeneLoc
Nature :405,311-319
Start:
36,993,861 bp from pter
23,648,420 bp from centromere
End:
37,044,088 bp from pter
23,698,647 bp from centromere
Size:
50,228 bases
50,228 bases
Orientation:
plus strand
plus strand
RefSeq DNA sequence: NC_000021.7 NT_011512.10 Whole chromosome sequencing:
cDNA sequence:
U80456 genomic clones:
KB594G10
Proteins for SIM2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: SIM2_HUMAN, Q14190 (See
protein sequence )Recommended Name: Single-minded homolog 2 Size : 667 amino acids; 73219 Da
Subunit : Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2and ARNT
Subcellular location : Nucleus
Secondary accessions : O60766 Q15470 Q15471 Q15472 Q15473 Q16532Alternative splicing : 2 isoforms : Q14190-1 Q14190-2
REFSEQ proteins (2 alternative transcripts):
NP_005060.1 NP_033664.2 ENSEMBL proteins: ENSP00000290399 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005634 nucleus
IEA --
About this table Antibodies for SIM2: Assays for SIM2:
Protein
Domains/ Families for SIM2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q14190 ProtoNet protein and cluster: Q14190
5/7 Blocks protein families (see all 7
): IPB000014 PAS domain IPB001067 Nuclear translocator signature IPB001092 Basic helix-loop-helix dimerization domain bHLH IPB001610 PAC motif IPB010578 Single-minded UniProtKB/Swiss-Prot: SIM2_HUMAN, Q14190 Similarity : Contains 1 basic helix-loop-helix (bHLH) domainSimilarity : Contains 1 PAC (PAS-associated C-terminal) domainSimilarity : Contains 2 PAS (PER-ARNT-SIM) domainsSimilarity : Contains 1 Single-minded C-terminal domain
Gene Function for SIM2
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_009586 Applied Biosystems Silencer ® siRNAs for SIM2 Sigma-Aldrich siRNA for SIM2 Sigma-Aldrich shRNA for SIM2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005069                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005069                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_005069  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005069 UniProtKB/Swiss-Prot: SIM2_HUMAN, Q14190 Function : Transcription factor that may be a master gene of CNS development in cooperation withArnt. It may have pleiotropic effects in the tissues expressed during development
Genatlas biochemistry entry for SIM2 :Drosophila master regulator of fruit fly neurogenesis,single-minded 2 homolog,expressed inbrain,kidney,skeletal muscle,prostate,located in the Down syndrome critical region with fouralternatively spliced isoforms,involved in the development of midline cells in the central nervoussystem
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Sim2) :5 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for SIM2
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for SIM2 5/7 Interacting proteins for SIM2 (ENSP00000290399 3 ) via UniProtKB, MINT, and/or STRING (see all 7
)About this table 5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
):
GO ID Qualified GO term Evidence PubMed IDs GO:0000122 negative regulation of transcription from RNA polymerase II promoter
IEA -- GO:0006355 regulation of transcription, DNA-dependent
IEA -- GO:0007165 signal transduction
IEA -- GO:0007275 multicellular organismal development
IEA -- GO:0007399 nervous system development
TAS 9199934
About this table
Drugs & Compounds for SIM2 (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 )
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Browse Tocris compounds for SIM2
Transcripts for SIM2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
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 Invitrogen ,
Millipore , and/or
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shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_009586 Sigma-Aldrich siRNA for SIM2 Sigma-Aldrich shRNA for SIM2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_005069 NM_009586
REFSEQ mRNAs for SIM2 gene (2 alternative transcripts): NM_005069.3 NM_009586.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_005069 NM_009586
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_005069                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_005069                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_005069  
Additional cDNA sequence: AJ001858.1 AJ001859.1 BC052313.1 BC067104.1 BC110444.2 U80456.1 U80457.1 X83515.1 X83516.1
3 DOTS entries : DT.311079 DT.311080 DT.100020010
24/34 AceView cDNA sequences (see all 34
):BE348303 X83514 NM_005069 BM817917 X84790 AI681666 X83515 BU859214 BF000531 AJ001858 AI625864 U80457 BU931875 U80456 BM848475 BM846210 BC067104 NM_009586 AJ001859 BC052313 BU931794 BU859043 BI255303 X83516
highest scoring ESTs for SIM2 :U80456 AA983560 AI208499 AI625864 AI681666 AI913212 BF095326 BG026400 BI255303 F02586
Unigene Cluster for SIM2: Single-minded homolog 2 (Drosophila) Hs.146186 [show with all ESTs ] Unigene Representative Sequence: NM_005069 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for SIM2 ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 SP1 :         -                   -   -     SP2 :         -                         SP3 :         -                         SP4 :                                
About this scheme ECgene alternative splicing isoforms for SIM2 1 Ensembl transcript including schematic representation : ENST00000290399
Expression for SIM2
(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 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SIM2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SIM2 1 / 2 / 3
6 probe-sets matching SIM2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.146186 Expression variation in blood from EXPOLDB for SIM2
Orthologs for SIM2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SIM2 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for SIM2 ENSEMBL Gene Tree for SIM2 Paralogs for SIM2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SIM2 gene SIM1 2 NPAS1 2 NPAS3 2
SNPs/Variants for SIM2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SIM2 (up to first 250kb)
Disorders & Mutations for SIM2
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 600892 7 Novoseek disease relationships for SIM2 gene
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Medical News for SIM2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SIM2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/59 PubMed articles for SIM2 gene (see all 59
): Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. (PubMed id 9199934) 1, 3, 4 Chrast R.... Antonarakis S.E. (1997) A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PubMed id 14697214) 1, 3, 4 Yamaki A.... Shimizu Y. (2004) Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development. (PubMed id 7568099) 1, 3, 4 Dahmane N.... Delabar J.-M. (1995) The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. (PubMed id 8661114) 1, 3, 4 Yamaki A.... Shimizu N. (1996) The DNA sequence of human chromosome 21. (PubMed id 10830953) 3, 4 Hattori M....Yaspo M.L. (2000) Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011) 3, 4 Dahmane N.... Delabar J.-M. (1998) A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region. (PubMed id 8905236) 3, 4 Osoegawa K.... Soeda E. (1996) Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. (PubMed id 7485157) 2, 3 Muenke M....Fan C.M. (1995) Single-minded and Down syndrome? (PubMed id 7647800) 3, 4 Chen H.... Shimizu N. (1995) Transcription factor single-minded 2 (SIM2) is ubiquitinated by the RING-IBR-RING-type E3 ubiquitin ligases. (PubMed id 15963499) 1, 3 Okui M....Shimizu Y. (2005)
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Genome Databases showing SIM2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SIM2
(According to HUGE )
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Specialized Databases showing SIM2 (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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-- Services for SIM2 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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