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SIM2 Gene

protein-coding   GIFtS: 59
GCID: GC21P038071

Single-Minded Family BHLH Transcription Factor 2

(Previous names: single-minded (Drosophila) homolog 2, single-minded homolog...)
(Previous symbol: SIM)
  See SIM2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Single-Minded Family BHLH Transcription Factor 21 2     Human Transcription Factor SIM2, Homolog Of The Drosophila Single-Minded
Gene SIM111
SIM1 2     HMC13F062
Transcription Factor SIM21 2     HMC29C012
Class E Basic Helix-Loop-Helix Protein 152 3     Single-Minded Homolog 22
bHLHe152 3     Single-Minded Homolog 2, Short Isoform2
Single-Minded (Drosophila) Homolog 21     BHLHE153
Single-Minded Homolog 2 (Drosophila)1     

External Ids:    HGNC: 108831   Entrez Gene: 64932   Ensembl: ENSG000001592637   OMIM: 6008925   UniProtKB: Q141903   

Export aliases for SIM2 gene to outside databases

Previous GC identifers: GC21P034649 GC21P036991 GC21P036992 GC21P036993 GC21P023547


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SIM2 Gene:
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, Jul 2008)

GeneCards Summary for SIM2 Gene:
SIM2 (single-minded family bHLH transcription factor 2) is a protein-coding gene. Diseases associated with SIM2 include down syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and signal transducer activity. An important paralog of this gene is ARNT2.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SIM2 gene promoter:
         Nkx2-5   IRF-1   NF-kappaB   Tal-1beta   NF-kappaB1   E47   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SIM2 promoter sequence

   Search Chromatin IP Primers for SIM2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SIM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 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)
SIM2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P038071:   GeneLoc Nature:405,311-319
Start:
38,071,433 bp from pter       23,648,420 bp from centromere
End:
38,122,510 bp from pter 23,698,647 bp from centromere
Size:
51,078 bases 50,228 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: U80456
genomic clones: KB594G10


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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 SIM2 and ARNT
Secondary accessions: O60766 Q15470 Q15471 Q15472 Q15473 Q16532 Q2TBD8
Alternative splicing: 2 isoforms:  Q14190-1   Q14190-2   

Explore the universe of human proteins at neXtProt for SIM2: NX_Q14190

Explore proteomics data for SIM2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SIM2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005060.1  NP_033664.2  

    ENSEMBL proteins: 
     ENSP00000290399   ENSP00000392003   ENSP00000476273   ENSP00000404176  

    SIM2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SIM2
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    Novus Biologicals SIM2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SIM2

     
    Search eBioscience for Proteins for SIM2 

    SIM2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SIM2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SIM2
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    Novus Biologicals SIM2 Antibodies
    Abcam antibodies for SIM2
    Cloud-Clone Corp. Antibodies for SIM2
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    LSBio Antibodies in human, mouse, rat for SIM2

    SIM2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SIM2
    Cloud-Clone Corp. CLIAs for SIM2
    Search eBioscience for ELISAs for SIM2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    Selected InterPro protein domains (see all 6):
     IPR010578 SIM_C
     IPR013655 PAS_fold_3
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS

    Graphical View of Domain Structure for InterPro Entry Q14190

    ProtoNet protein and cluster: Q14190

    Selected Blocks protein domains (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 bHLH (basic helix-loop-helix) 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


    Find genes that share domains with SIM2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with SIM2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sim2):
     craniofacial  digestive/alimentary  growth/size/body  mortality/aging  nervous system 
     respiratory system  skeleton 

    Find genes that share phenotypes with SIM2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SIM2: Sim2tm1Shmb Sim2tm1Fan

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SIM2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SIM2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIM2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIM2

    miRNA
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    Block miRNA regulation of human, mouse, rat SIM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIM2 (see all 47):
    hsa-let-7d hsa-miR-200a hsa-miR-25 hsa-miR-624 hsa-miR-570 hsa-miR-877* hsa-let-7g hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidSIM2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SIM2
    Predesigned siRNA for gene silencing in human, mouse, rat SIM2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SIM2

    Clone
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    OriGene clones in human, mouse for SIM2 (see all 12)
    OriGene ORF clones in mouse, rat for SIM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SIM2 (NM_005069)
    Sino Biological Human cDNA Clone for SIM2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIM2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SIM2
    Browse ESI BIO Cell Lines and PureStem Progenitors for SIM2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SIM2_HUMAN, Q14190: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with SIM2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SIM2 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SIM2
    Interactions:

        GeneGlobe Interaction Network for SIM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SIM2 (Q141902, 3 ENSP000002903994) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARNT2Q9HBZ23, ENSP000003074794I2D: score=2 STRING: ENSP00000307479
    PARK2O602603, ENSP000003558654I2D: score=2 STRING: ENSP00000355865
    ARNTP275403, ENSP000003514074I2D: score=6 STRING: ENSP00000351407
    ARIH1Q9Y4X53, ENSP000003692174I2D: score=1 STRING: ENSP00000369217
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007165signal transduction ----
    GO:0007399nervous system development IEA--

    Find genes that share ontologies with SIM2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SIM2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SIM2 gene (2 alternative transcripts): 
    NM_005069.3  NM_009586.2  

    Unigene Cluster for SIM2:

    Single-minded homolog 2 (Drosophila)
    Hs.146186  [show with all ESTs]
    Unigene Representative Sequence: NM_005069
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460783(uc002yvp.3) ENST00000481185 ENST00000290399(uc002yvr.2)
    ENST00000431229 ENST00000483178 ENST00000430056(uc002yvq.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SIM2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIM2 (see all 47):
    hsa-let-7d hsa-miR-200a hsa-miR-25 hsa-miR-624 hsa-miR-570 hsa-miR-877* hsa-let-7g hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidSIM2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SIM2
    Predesigned siRNA for gene silencing in human, mouse, rat SIM2
    Clone
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    OriGene clones in human, mouse for SIM2 (see all 12)
    OriGene ORF clones in mouse, rat for SIM2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SIM2 (NM_005069)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIM2
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SIM2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SIM2
      QuantiTect SYBR Green Assays in human, mouse, rat SIM2
      QuantiFast Probe-based Assays in human, mouse, rat SIM2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 34):

    BE348303 X84790 AI681666 NM_005069 BM817917 X83514 X83515 U80457 
    BF000531 NM_009586 BU931794 BM848475 BU859214 BU931875 BC067104 U80456 
    AI625864 BU859043 BM846210 AJ001859 AJ001858 BC052313 X83516 BI255303 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SIM2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
    SP1:                          -                                                     -     -         
    SP2:                          -                                                                     
    SP3:                          -                                                                     
    SP4:                                                                                                


    ECgene alternative splicing isoforms for SIM2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SIM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SIM2 Expression
    About this image


    SIM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Thalamus
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    SIM2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIM2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146186
        Custom PCR Arrays for SIM2
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIM2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SIM2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sim21 , 5 single-minded homolog 2 (Drosophila)1, 5 88.31(n)1
    91.62(a)1
      16 (55.05 cM)5
    204651  NM_011377.21  NP_035507.21 
     940852605 
    chicken
    (Gallus gallus)
    Aves SIM21 single-minded homolog 2 (Drosophila) 73.91(n)
    81.15(a)
      418515  XM_004934541.1  XP_004934598.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIM26
    single-minded family bHLH transcription factor 2
    66(a)
    1 ↔ 1
    3(141145317-141206848)
    African clawed frog
    (Xenopus laevis)
    Amphibia sim2-A2 single-minded homolog 2 76.74(n)    AF283298.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sim22 single-minded homolog 2 (Drosophila) 80.28(n)   114450  AF363019.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sim3 adult walking behavior transcription
    factor
    66(a)   3 87D11   --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-346
    Protein HLH-34 (hlh-34) mRNA, complete cds
    28(a)
    1 → many
    V(13705975-13707360) WBGene00011327


    ENSEMBL Gene Tree for SIM2 (if available)
    TreeFam Gene Tree for SIM2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SIM2 gene
    ARNT22  CLOCK2  NPAS22  AHR2  ARNT2  EPAS12  NPAS32  HIF1A2  
    SIM12  HIF3A2  ARNTL2  NPAS12  ARNTL22  AHRR2  
    4 SIMAP similar genes for SIM2 using alignment to 3 protein entries:     SIM2_HUMAN (see all proteins):
    SIM1    NPAS3    HIF1A    NPAS1

    Find genes that share paralogs with SIM2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SIM2 (see all 1266)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs750493051,2
    C,F--28617289(+) GCACGG/ATTGCC 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1495634321,2
    --28617650(+) TGTGA-/CCCCGCC 2 -- us2k10--------
    rs1904166711,2
    --28617802(+) CGCGTC/TTGCAA 2 -- us2k10--------
    rs1123002131,2
    C,F--28617858(+) CCCACC/GTGCGC 2 -- us2k12Minor allele frequency- G:0.08WA 120
    rs1139045401,2
    C--28618067(+) GCGCCC/TCTGCG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1817252191,2
    --28618186(+) TGTGTA/CATGGG 2 -- us2k10--------
    rs1434791731,2
    C--28618196(+) GGGGA-/GGGGGG 2 -- us2k10--------
    rs28540391,2
    C,F--28618366(+) GAGCCA/TCAGGG 2 -- us2k14Minor allele frequency- T:0.27NA WA EA 360
    rs28457971,2
    C,F--28618472(+) GCCGTG/ATGCAC 2 -- us2k12Minor allele frequency- A:0.25WA NA 238
    rs28458001,2
    C,F,H--28618938(+) TTCGAA/GCACTC 2 -- us2k119Minor allele frequency- G:0.11NS EA NA WA CSA 2051

    HapMap Linkage Disequilibrium report for SIM2 (38071433 - 38122510 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SIM2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv828876CNV Loss20364138
    nsv913737CNV Loss21882294
    nsv913735CNV Loss21882294
    nsv913736CNV Loss21882294
    nsv519597CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIM2
    DNA2.0 Custom Variant and Variant Library Synthesis for SIM2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600892    OMIM disorders: --

    1 disease for SIM2:    
    About MalaCards
    down syndrome

    1 disease from the University of Copenhagen DISEASES database for SIM2:
    Down syndrome

    Find genes that share disorders with SIM2           About GenesLikeMe

    7 Novoseek inferred disease relationships for SIM2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 72.8 37 9199934 (3), 8812055 (3), 15946822 (3), 10400987 (2) (see all 14)
    colon tumor 36.8 1 12530058 (1)
    mental retardation 35.5 3 10400987 (1), 15946822 (1)
    trisomy 24.9 1 10915774 (1)
    solid tumor 22.8 5 12676991 (3), 17289882 (1)
    tumors 0 1 14550949 (1)
    cancer 0 4 17289882 (2), 20448453 (1), 12530058 (1)

    Genetic Association Database (GAD): SIM2
    Human Genome Epidemiology (HuGE) Navigator: SIM2 (1 document)

    Export disorders for SIM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SIM2 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with SIM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 2, 9 Chrast R.... Antonarakis S.E. (Genome Res. 1997)
    2. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PubMed id 14697214)1, 2, 9 Yamaki A.... Shimizu Y. (Biochem. Biophys. Res. Commun. 2004)
    3. Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development. (PubMed id 7568099)1, 2, 9 Dahmane N.... Delabar J.-M. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    4. The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. (PubMed id 8661114)1, 2, 9 Yamaki A.... Shimizu N. (Genomics 1996)
    5. [Association study of SIM2 gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population]. (PubMed id 20137643)1, 4 Fei Q....Qiu G.X. (Zhonghua Yi Xue Za Zhi 2009)
    6. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    7. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011)1, 2 Dahmane N.... Delabar J.-M. (Genomics 1998)
    8. A 19-kb CpG island associated with single-minded gene 2 in Down syndrome chromosomal region. (PubMed id 8905236)1, 2 Osoegawa K.... Soeda E. (DNA Res. 1996)
    9. Single-minded and Down syndrome? (PubMed id 7647800)1, 2 Chen H.... Shimizu N. (Nat. Genet. 1995)
    10. 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)1, 3 Muenke M....Fan C.M. (Am. J. Hum. Genet. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
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    Entrez Gene: 6493 HGNC: 10883 AceView: SIM2 Ensembl:ENSG00000159263 euGenes: HUgn6493
    ECgene: SIM2 H-InvDB: SIM2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SIM2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SIM2 gene:
    Search GeneIP for patents involving SIM2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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