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Aliases for SIM2 Gene

Aliases for SIM2 Gene

  • Single-Minded Family BHLH Transcription Factor 2 2 3
  • 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. 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 AHRR.

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

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

Genomics for SIM2 Gene

Regulatory Elements for SIM2 Gene

Genomic Location for SIM2 Gene

Start:
36,699,133 bp from pter
End:
36,750,209 bp from pter
Size:
51,077 bases
Orientation:
Plus strand

Genomic View for SIM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SIM2 Gene at MOPED

Post-translational modifications for SIM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIM2 Gene

No data available for DME Specific Peptides for SIM2 Gene

Domains for SIM2 Gene

Gene Families for SIM2 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Suggested Antigen Peptide Sequences for SIM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14190

UniProtKB/Swiss-Prot:

SIM2_HUMAN :
  • Q14190
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 2 PAS (PER-ARNT-SIM) domains.
  • Contains 1 Single-minded C-terminal domain.
genes like me logo Genes that share domains with SIM2: view

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

Gene Ontology (GO) - Molecular Function for SIM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0004871 signal transducer activity IEA --
GO:0005515 protein binding --
GO:0046982 protein heterodimerization 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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SIM2 Gene

Localization for SIM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIM2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIM2 Gene COMPARTMENTS Subcellular localization image for SIM2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SIM2 Gene

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

Pathways for SIM2 Gene

SuperPathways 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 from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0007165 signal transduction IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with SIM2: view

No data available for Pathways by source for SIM2 Gene

Transcripts for SIM2 Gene

Unigene Clusters for SIM2 Gene

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

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 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 (14.0) and Kidney - Cortex (9.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SIM2 Gene

SOURCE GeneReport for Unigene cluster for SIM2 Gene Hs.146186

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

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.45 (n)
  • 99.55 (a)
SIM2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SIM2 35
  • 89.19 (n)
  • 90.49 (a)
SIM2 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIM2 35
  • 91.67 (n)
  • 93.8 (a)
SIM2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sim2 35
  • 88.31 (n)
  • 91.62 (a)
Sim2 16
Sim2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SIM2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SIM2 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sim2 35
  • 87.6 (n)
  • 90.7 (a)
chicken
(Gallus gallus)
Aves SIM2 35
  • 73.91 (n)
  • 81.15 (a)
SIM2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SIM2 36
  • 66 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia sim2-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sim2 35
  • 70.89 (n)
  • 75.61 (a)
zebrafish
(Danio rerio)
Actinopterygii sim2 35
  • 73.35 (n)
  • 78.93 (a)
SIM2 36
  • 32 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta sim 36
  • 41 (a)
OneToMany
sim 37
  • 66 (a)
worm
(Caenorhabditis elegans)
Secernentea hlh-34 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
OneToMany
Species with no ortholog for SIM2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs732638 -- 36,719,230(-) ACATT(A/G)CCAGC intron-variant
rs737380 -- 36,705,168(+) GGGTC(A/G)TAAAC intron-variant
rs737489 -- 36,705,464(+) GCCGC(A/C)GGCAG intron-variant
rs743427 -- 36,732,542(-) AGAGA(C/T)TTGGG intron-variant
rs743428 -- 36,718,707(+) GGGGT(A/T)CACCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv913735 CNV Loss 21882294
nsv913736 CNV Loss 21882294
nsv828876 CNV Loss 20364138
nsv913737 CNV Loss 21882294
nsv519597 CNV Loss 19592680

Relevant External Links for SIM2 Gene

HapMap Linkage Disequilibrium report
SIM2

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

Disorders for SIM2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SIM2 Gene including...

Search for SIM2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SIM2 Gene

(7) Novoseek inferred disease relationships for SIM2 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 72.8 24
colon tumor 36.8 1
mental retardation 35.5 2
trisomy 24.9 1
solid tumor 22.8 4

Relevant External Links for SIM2

Genetic Association Database (GAD)
SIM2
Human Genome Epidemiology (HuGE) Navigator
SIM2
genes like me logo Genes that share disorders with SIM2: view

No data available for UniProtKB/Swiss-Prot 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. (Biochem. Biophys. Res. Commun. 2004) 3 4 23
  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 S.E. (Genome Res. 1997) 3 4 23
  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 23
  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 J.-M. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  5. Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. (PMID: 8812055) Fan C.M. … Tessier-Lavigne M. (Mol. Cell. Neurosci. 1996) 3 23

Products for SIM2 Gene

Sources for SIM2 Gene

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