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Sim2
Gene Detail
 Symbol
Name
ID
Sim2
single-minded homolog 2 (Drosophila)
MGI:98307
Synonyms bHLHe15
Feature Type protein coding gene
Genetic Map
Chromosome 16
55.05 cM, cytoband C3.3-C4
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr16:94085260-94127032 bp, + strand
From NCBI annotation of GRCm38

  41773 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3716  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sim2

Human
homologs
Human Homolog SIM2, single-minded family bHLH transcription factor 2
NCBI Gene ID 6493
neXtProt AC  NX_Q14190
Human Synonyms  bHLHe15, HMC13F06, HMC29C01, SIM
Human Chr (Location)  21q22.13; chr21:36699691-36750209 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Genomic Mutations involving Sim2 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.
 
Alleles Annotated to Human Diseases(1)   
Interactions
Sim2 interacts with 195 markers (Mir18, Mir18b, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process cell differentiation, embryonic pattern specification, ...
Component nucleus
Function DNA binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (28 records)
Data Summary: Results (244)    Tissues (213)    Images (27)
Theiler Stages: 10, 13, 15, 16, 17, 18, 19, 20, 21, 22, 23, 25, 26, 27, 28
Assay TypeResults
RNA in situ 221
RT-PCR 23
cDNA source data(19)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) Genomic(6) cDNA(19) Primer pair(3) Other(2)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000062713 (Evidence)
Entrez Gene20465 (Evidence)
UniGene4775
DFCITC1587459, TC1593756
DoTSDT.110712533, DT.60104014, DT.91591489
NIA Mouse Gene IndexU017407
Consensus CDS ProjectCCDS37406.1
International Mouse Knockout Project StatusSim2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20465 NCBI Gene Model | MGI Sequence Detail 41773 C57BL/6J ±  kb
transcript NM_011377 RefSeq | MGI Sequence Detail 3670 C57BL/6 
polypeptide Q61079 UniProt | EBI | MGI Sequence Detail 657 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(8) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(154 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
InterPro IPR001610 PAC motif
InterPro IPR000014 PAS domain
InterPro IPR013767 PAS fold
InterPro IPR013655 PAS fold-3
InterPro IPR010578 Single-minded, C-terminal
Protein Ontology PR:000014876 single-minded homolog 2
Graphical View of Protein Domain Structure
References (Earliest) J:29399 Muenke M, et al., 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. Am J Hum Genet. 1995 Nov;57(5):1074-9
(Latest) J:187966 Jeong J, et al., Cleft palate defect of Dlx1/2-/- mutant mice is caused by lack of vertical outgrowth in the posterior palate. Dev Dyn. 2012 Nov;241(11):1757-69
All references(64)
Other
accession IDs
MGD-MRK-14415

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory