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Sim2 Gene Detail
Summary
  • Symbol
    Sim2
  • Name
    single-minded family bHLH transcription factor 2
  • Synonyms
    bHLHe15
  • Feature Type
    protein coding gene
  • IDs
    MGI:98307
    NCBI Gene: 20465
  • Gene Overview
    MyGene.info: SIM2
  • Alliance
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, SIM bHLH transcription factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SIM2, SIM bHLH transcription factor 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    bHLHe15, HMC13F06, HMC29C01, SIM
  • Links
    NCBI Gene ID: 6493
    neXtProt AC: NX_Q14190
    UniProt: Q14190

  • Chr Location
    21q22.13; chr21:36699117-36750219 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3716
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
    33 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 34
      Genomic 7
      cDNA 21
      Primer pair 3
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14415
    References
    more
    • Summaries
      All 94
      Developmental Gene Expression 32
      Diseases 4
      Gene Ontology 8
      Phenotypes 33
    • 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:262380 Watson-Scales S, et al., Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration. PLoS Genet. 2018 May;14(5):e1007383

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory