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SIM2 Gene

protein-coding   GIFtS: 57

GC21P036993
single-minded homolog 2 (Drosophila)
(Previous name: single-minded (Drosophila) homolog 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SIM)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase, and/or 9Nature:405,311-319 and CroW21)
About This Section

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
External Ids
HGNC: 108831
Entrez Gene: 64932
UniProtKB: Q141903
Ensembl: ENSG000001592637
Search outside databases for aliases for SIM2 gene

Previous GC identifers: GC21P034649 GC21P036991 GC21P036992

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SIM2:
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene
encodes a transcription factor that is a master regulator of fruit fly neurogenesis. SIM2 maps
within the so-called Down syndrome chromosomal region. Based on the mapping position, its
potential function as transcriptional repressor and similarity to Drosophila sim, it is proposed
that 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 with
Arnt. It may have pleiotropic effects in the tissues expressed during development

Gene Wiki entry 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

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.2|21q22.13   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.2
Nature(405: 311-319) cytogenetic band:   21q22.13
SIM2 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 21         GeneLoc Exon Structure

(about GC identifiers)
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

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
About This Section

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 SIM2
and ARNT
Subcellular location: Nucleus
Secondary accessions: O60766 Q15470 Q15471 Q15472 Q15473 Q16532
Alternative 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 Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Browse Abnova for 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 IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
About this table

Antibodies for SIM2: 
Browse Antibodies Central at Invitrogen
Millipore Mono- and Polyclonal Antibodies for the study of SIM2
Sigma-Aldrich Antibodies for SIM2
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Monoclonal and Polyclonal Antibodies from Abnova (SIM2)
Novus Biologicals Antibodies for SIM2

Assays for SIM2: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/6 InterPro domains/families (see all 6 ):
 IPR001610 PAC
 IPR001092 HLH_basic
 IPR013767 PAS_fold
 IPR000014 PAS
 IPR010578 SIM_C


   GeneDecks  SIM2 for the domains selected above  
About GeneDecksing

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) domain
Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
Similarity: Contains 2 PAS (PER-ARNT-SIM) domains
Similarity: Contains 1 Single-minded C-terminal domain

(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 from Invitrogen, 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.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SIM2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SIM2)
               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  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               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 with
Arnt. 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 in
brain,kidney,skeletal muscle,prostate,located in the Down syndrome critical region with four
alternatively spliced isoforms,involved in the development of midline cells in the central nervous
system

7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sim2):

craniofacialdigestive/alimentarygrowth/sizelethality-postnatalnervous system
respiratory systemskeleton

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 transcription factor activity TAS8661114 9199934
GO:0004871 signal transducer activity IEA--
GO:0005515 protein binding IEA--
GO:0016564 transcription repressor activity IEA--
GO:0046982 protein heterodimerization activity IEA--
About this table

(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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Millipore Pathway for SIM2
 Transcription factors in neurogenesis

   GeneDecks  SIM2 for the pathways selected above  
About GeneDecksing

 Gene Network CentralTM Interacting Genes and Proteins Network for  SIM2 


5/7 Interacting proteins for SIM2 (ENSP000002903993) via UniProtKB, MINT, and/or STRING (see all 7 )
InteractantInteraction Details
GeneCardExternal ID(s)
ARNTENSP000003156373STRING (score=.987)
PARK2ENSP000003558653STRING (score=.95)
MYOM2ENSP000002621133STRING (score=.914)
TWIST1ENSP000002422613STRING (score=.867)
EGFRENSP000002754933STRING (score=.866)
About this table

5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO IDQualified GO termEvidencePubMed 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 TAS9199934
About this table
(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 drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds 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 Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (SIM2)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (SIM2)
               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  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
About This Section

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


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

39608_at2, 3 U95-A 1 1.00 1.00 0.98 0.70 U80456 1.00 1.00 1.00 1

39609_at2, 3 U95-A 1 1.00 1.00 0.38 1.47 U80457 0.80 1.00 0.91 1

206558_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005069 0.60 1.00 0.82 1

208157_at2, 3 U133-A 1 1.00 1.00 -- -- NM_009586 0.60 1.00 0.82 1

206558_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

208157_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
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 according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for SIM2 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
SIM21   -- single-minded homolog 2 (Drosophila) 91.89(n)
95.5(a)
607987  XM_844426.1  XP_849519.1 
chimpanzee
(Pan troglodytes)
SIM21   -- single-minded homolog 2 (Drosophila) 99.4(n)
99.55(a)
474107  XM_001169453.1  XP_001169453.1 
rat
(Rattus norvegicus)
Sim21   -- single-minded homolog 2 (Drosophila) 87.6(n)
90.7(a)
304071  XM_221633.3  XP_221633.2 
mouse
(Mus musculus)
Sim21, 5 16 (67.57 cM)5
single-minded homolog 2 (Drosophila)1, 5 88.31(n)1
91.62(a)1
204651  NM_011377.21  NP_035507.21 
 AF0238645  AF0238655  (see all 22)
chicken
(Gallus gallus)
SIM21   -- single-minded homolog 2 (Drosophila) 73.95(n)
81.67(a)
418515  XM_416724.2  XP_416724.2 
About this table        Species with no ortholog for SIM2

ENSEMBL Gene Tree for SIM2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for SIM2 gene
SIM12  NPAS12  NPAS32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/294 NCBI SNPs in SIM2 are shown (see all 294 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 136)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 21 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs20736011,2
A,C,F,H37039178(+) GCACAC/ATGCCA 2 M/L mis1 ese313Minor allele frequency- A:0.13EU EA WA NA 1248
rs20513971,2
A,C,F,H37043407(+) TCCTGT/CCATGG 1 -- ut319Minor allele frequency- C:0.41EU EA WA 2336
rs8776861,2
A,C,F,H37040810(-) AGGGGG/TCCTGG 2 -- ng31 int19Minor allele frequency- T:0.43EA NA WA 624
rs20736031,2
C,F,H37039612(+) GTGATT/GTTCAA 2 -- int1 ut318Minor allele frequency- G:0.08EA NA EU WA 2050
rs20734171,2
C,F,H37042588(+) CCGCTG/AGGGGA 1 -- ut31 ese38Minor allele frequency- A:0.30EU EA WA 836
rs99825191,2
A,C,H37039959(+) TCCTGG/CTGGCA 2 -- ut31 int14Minor allele frequency- C:0.00EU EA WA 404
--
rs119091491,2
A,C37043464(+) ACACTA/GTCAAC 1 -- ut31 ese30--------
rs20027991,2
A,F37040577(-) GAGGCA/GTGGAG 2 -- int1 ng315Minor allele frequency- G:0.31NA PA 434
rs28457971,2
C36993069(+) GCCGTA/GTGCAC 2 -- ng510--------
--
rs99835711,2
A37042419(+) AGGCCC/GCGCGC 1 -- ut31 ese30--------
About this table

HapMap Linkage Disequilibrium images for SIM2 (up to first 250kb)

(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.)
About This Section

OMIM: 600892

7 Novoseek disease relationships for SIM2 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome 72.39 36 9199934 (3), 8812055 (3), 15946822 (3), 10400987 (2) (see all 13)
colon tumor 37.92 1 12530058 (1)
mental retardation 36.63 3 10400987 (1), 15946822 (1)
trisomy 25.91 1 10915774 (1)
solid tumor 24.39 5 12676991 (3), 17289882 (1)
cancer 0.00 3 17289882 (2), 12530058 (1)
tumors 0.00 1 14550949 (1)
About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/59 PubMed articles for SIM2 gene (see all 59 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 6493 HGNC: 10883 AceView: SIM2 Ensembl:ENSG00000159263 euGenes: HUgn6493
ECgene: SIM2 H-InvDB: SIM2
(According to HUGE)
About This Section

  --
(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

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(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



Products for SIM2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for SIM2 Antibodies for SIM2
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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