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 zebrafish

Gene Tree: Sim2

Human homologs

Human Homolog		SIM2, single-minded homolog 2 (Drosophila)
NCBI Gene ID		6493
neXtProt AC		NX_Q14190
Human Synonyms		bHLHe15, HMC13F06, HMC29C01, SIM
Human Chr (Location)		21q22.13; chr21:38071991-38122510 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.

 
Alleles Annotated to Human Diseases(1)   

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 (212)    Images (27)
Theiler Stages: 10, 13, 15, 16, 17, 18, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	221
RT-PCR	23

cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(30) Genomic(6) cDNA(19) Primer pair(3) Other(2)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000062713 (Evidence)
Entrez Gene	20465 (Evidence)
UniGene	4775
DFCI	TC1587459, TC1593756
DoTS	DT.110712533, DT.60104014, DT.91591489
NIA Mouse Gene Index	U017407
Consensus CDS Project	CCDS37406.1
International Mouse Knockout Project Status	Sim2

Sequences

Length	Strain/Species
genomic	20465	NCBI Gene Model | MGI Sequence Detail	41773	C57BL/6J
transcript	NM_011377	RefSeq | MGI Sequence Detail	3670	C57BL/6
polypeptide	Q61079	UniProt | EBI | MGI Sequence Detail	657	Not Applicable

All sequences(23) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(146 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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 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