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Aliases for SIM2 Gene

Aliases for SIM2 Gene

  • Single-Minded Family BHLH Transcription Factor 2 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 15 3 4
  • Transcription Factor SIM2 2 3
  • BHLHe15 3 4
  • Single-Minded (Drosophila) Homolog 2 2
  • Single-Minded Homolog 2 (Drosophila) 2
  • Single-Minded Homolog 2 3
  • HMC13F06 3
  • HMC29C01 3
  • SIM 3

External Ids for SIM2 Gene

Previous HGNC Symbols for SIM2 Gene

  • SIM

Previous GeneCards Identifiers for SIM2 Gene

  • GC21P034649
  • GC21P036991
  • GC21P036992
  • GC21P036993
  • GC21P038071
  • GC21P023547

Summaries for SIM2 Gene

Entrez Gene Summary for SIM2 Gene

  • This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]

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 and Holoprosencephaly 1. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and signal transducer activity. An important paralog of this gene is SIM1.

UniProtKB/Swiss-Prot for SIM2 Gene

  • 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

Additional gene information for SIM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIM2 Gene

Genomics for SIM2 Gene

GeneHancer (GH) Regulatory Elements for SIM2 Gene

Promoters and enhancers for SIM2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I036697 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.1 +2.0 1990 6.9 HDGF SIN3A GLI4 ZNF2 GLIS2 SP3 SP5 YY2 ZNF662 REST SIM2 ENSG00000224269 SETD4 ENSG00000242553 RIMKLBP1 TTC3-AS1 TTC3 DSCR9 MORC3
GH21I036698 Enhancer 0.6 ENCODE dbSUPER 550.8 -1.9 -1897 0.2 SUZ12 EZH2 SIM2 GC21M036690
GH21I036730 Enhancer 1 ENCODE dbSUPER 12.2 +31.8 31802 0.2 FOXA2 MLX DNMT3B THRB RARA CREM HMG20B CEBPB MIER2 PPARG ENSG00000224269 SIM2 GC21P036719 GC21P036720 HLCS-IT1
GH21I036718 Enhancer 0.9 ENCODE dbSUPER 12.5 +20.3 20325 1.7 CTCF KLF1 L3MBTL2 NRF1 MAFG BATF ZFHX2 ZNF316 SMARCA4 GMEB1 GC21P036719 GC21P036720 SIM2 GC21P036712 GC21P036713 GC21P036714
GH21I036695 Enhancer 0.6 ENCODE dbSUPER 18.4 -3.2 -3200 0.1 SUZ12 CTBP2 EZH2 SIM2 GC21M036690
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SIM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIM2 gene promoter:

Genomic Locations for SIM2 Gene

Genomic Locations for SIM2 Gene
chr21:36,699,133-36,750,219
(GRCh38/hg38)
Size:
51,087 bases
Orientation:
Plus strand
chr21:38,071,433-38,122,510
(GRCh37/hg19)

Genomic View for SIM2 Gene

Genes around SIM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIM2 Gene

Proteins for SIM2 Gene

  • Protein details for SIM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14190-SIM2_HUMAN
    Recommended name:
    Single-minded homolog 2
    Protein Accession:
    Q14190
    Secondary Accessions:
    • O60766
    • Q15470
    • Q15471
    • Q15472
    • Q15473
    • Q16532
    • Q2TBD8

    Protein attributes for SIM2 Gene

    Size:
    667 amino acids
    Molecular mass:
    73219 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM2 and ARNT.

    Alternative splice isoforms for SIM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIM2 Gene

Post-translational modifications for SIM2 Gene

No Post-translational modifications

Other Protein References for SIM2 Gene

No data available for DME Specific Peptides for SIM2 Gene

Domains & Families for SIM2 Gene

Gene Families for SIM2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for SIM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SIM2: view

No data available for UniProtKB/Swiss-Prot for SIM2 Gene

Function for SIM2 Gene

Molecular function for SIM2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SIM2 Gene

Gene Ontology (GO) - Molecular Function for SIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,TAS 8661114
GO:0046982 protein heterodimerization activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with SIM2: view
genes like me logo Genes that share phenotypes with SIM2: view

Animal Models for SIM2 Gene

MGI Knock Outs for SIM2:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIM2 Gene

Localization for SIM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIM2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIM2 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with SIM2: view

Pathways & Interactions for SIM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SIM2: view

No data available for Pathways by source and SIGNOR curated interactions for SIM2 Gene

Drugs & Compounds for SIM2 Gene

No Compound Related Data Available

Transcripts for SIM2 Gene

Unigene Clusters for SIM2 Gene

Single-minded homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SIM2 Gene

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

Relevant External Links for SIM2 Gene

GeneLoc Exon Structure for
SIM2
ECgene alternative splicing isoforms for
SIM2

Expression for SIM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIM2 Gene

This gene is overexpressed in Esophagus - Mucosa (x14.0) and Kidney - Cortex (x9.6).

Protein differential expression in normal tissues from HIPED for SIM2 Gene

This gene is overexpressed in Platelet (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIM2 Gene



Protein tissue co-expression partners for SIM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SIM2 Gene:

SIM2

SOURCE GeneReport for Unigene cluster for SIM2 Gene:

Hs.146186

Evidence on tissue expression from TISSUES for SIM2 Gene

  • Nervous system(4.4)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with SIM2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIM2 Gene

Orthologs for SIM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SIM2 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia SIM2 33 34
  • 91.67 (n)
cow
(Bos Taurus)
Mammalia SIM2 33 34
  • 89.19 (n)
mouse
(Mus musculus)
Mammalia Sim2 33 16 34
  • 88.31 (n)
rat
(Rattus norvegicus)
Mammalia Sim2 33
  • 87.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SIM2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIM2 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIM2 33 34
  • 73.91 (n)
lizard
(Anolis carolinensis)
Reptilia SIM2 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sim2 33
  • 70.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia sim2-A 33
zebrafish
(Danio rerio)
Actinopterygii sim2 33
  • 73.35 (n)
SIM2 34
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sim 35 34
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea hlh-34 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToMany
Species where no ortholog for SIM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIM2 Gene

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

Paralogs for SIM2 Gene

Paralogs for SIM2 Gene

(4) SIMAP similar genes for SIM2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SIM2: view

Variants for SIM2 Gene

Sequence variations from dbSNP and Humsavar for SIM2 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000030674 -- 36,706,578(+) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000120358 -- 36,733,228(+) C/A intron_variant
rs1000134758 -- 36,701,851(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000159034 -- 36,737,822(+) G/A intron_variant
rs1000209563 -- 36,722,257(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SIM2 Gene

Variant ID Type Subtype PubMed ID
nsv1073128 CNV deletion 25765185
nsv1133526 CNV deletion 24896259
nsv519597 CNV loss 19592680
nsv828876 CNV loss 20364138
nsv953361 CNV deletion 24416366

Variation tolerance for SIM2 Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.65; 86.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIM2 Gene

Disorders for SIM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SIM2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
holoprosencephaly 1
  • hpe1
chromosomal disease
  • chromosomal disorders
- elite association - COSMIC cancer census association via MalaCards
Search SIM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIM2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SIM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIM2 Gene

Publications for SIM2 Gene

  1. A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. (PMID: 14697214) Yamaki A … Shimizu Y (Biochemical and biophysical research communications 2004) 3 4 22 58
  2. 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. (PMID: 9199934) Chrast R … Antonarakis SE (Genome research 1997) 3 4 22 58
  3. The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome. (PMID: 8661114) Yamaki A … Shimizu N (Genomics 1996) 3 4 22 58
  4. Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development. (PMID: 7568099) Dahmane N … Delabar JM (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58
  5. Single minded 2-s (SIM2-s) gene is expressed in human GBM cells and involved in GBM invasion. (PMID: 20448453) He Q … Zhang J (Cancer biology & therapy 2010) 3 22 58

Products for SIM2 Gene

Sources for SIM2 Gene

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