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Sim2 Gene Detail
Summary
  • Symbol
    Sim2
  • Name
    single-minded homolog 2 (Drosophila)
  • Synonyms
    bHLHe15
  • Feature Type
    protein coding gene
  • IDs
    MGI:98307
    NCBI Gene: 20465
  • Gene Overview
    MyGene.info: SIM2
Location & Maps
more
  • Sequence Map
    Chr16:94085260-94127032 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41773 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 55.05 cM, cytoband C3.3-C4
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    SIM2, single-minded family bHLH transcription factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SIM2, single-minded family bHLH transcription factor 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bHLHe15, HMC13F06, HMC29C01, SIM
  • Links
    NCBI Gene ID: 6493
    neXtProt AC: NX_Q14190

  • Chr Location
    21q22.13; chr21:36699133-36750219 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3716
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SIM2
  • Gene Tree
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Targeted
    12
  • Genomic Mutations
    8 involving Sim2
  • Incidental Mutations
Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000062713 Ensembl Gene Model | MGI Sequence Detail 41773 C57BL/6J ±  kb
transcript ENSMUST00000072182 Ensembl | MGI Sequence Detail 3670 Not Applicable  
polypeptide ENSMUSP00000072043 Ensembl | MGI Sequence Detail 657 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    156 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 31
    Genomic 6
    cDNA 19
    Primer pair 3
    Other 3

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-14415
References
more
  • Summaries
    All 63
    Developmental Gene Expression 29
    Diseases 4
    Gene Ontology 8
    Phenotypes 26
  • 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:227825 Chen KJ, et al., SIM2 maintains innate host defense of the small intestine. Am J Physiol Gastrointest Liver Physiol. 2014 Dec 1;307(11):G1044-56

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory