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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:93885963-93927891 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 55.05 cM, cytoband C3.3-C4
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    772 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98307
 protein coding gene Chr16:93885790-93927891 (+)
129S1/SvImJ ENSMUSG00200037118
 protein coding gene Chr16:90817178-90859311 (+)
A/J ENSMUSG00195026167
 protein coding gene Chr16:90574912-90617118 (+)
AKR/J ENSMUSG00220015871
 protein coding gene Chr16:90820226-90862430 (+)
BALB/cJ ENSMUSG00180014391
 protein coding gene Chr16:90648901-90691103 (+)
C3H/HeJ ENSMUSG00175014082
 protein coding gene Chr16:90986011-91028229 (+)
C57BL/6NJ ENSMUSG00215016975
 protein coding gene Chr16:90777532-90819739 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020986
 protein coding gene Chr16:88683773-88726008 (+)
CAST/EiJ ENSTCUG00005017934
 protein coding gene Chr16:90373707-90415943 (+)
CBA/J ENSMUSG00210040135
 protein coding gene Chr16:90893538-90935750 (+)
DBA/2J ENSMUSG00185029404
 protein coding gene Chr16:90832955-90875151 (+)
FVB/NJ ENSMUSG00205019190
 protein coding gene Chr16:90612483-90654703 (+)
JF1/MsJ ENSUMUG00000024839
 protein coding gene Chr16:90979516-91021775 (+)
LP/J ENSMUSG00230024855
 protein coding gene Chr16:93363780-93405912 (+)
NOD/ShiLtJ ENSMUSG00190019689
 protein coding gene Chr16:90801461-90843670 (+)
NZO/HlLtJ ENSMUSG00225029598
 protein coding gene Chr16:96479287-96521482 (+)
PWK/PhJ ENSLUMG00010013475
 protein coding gene Chr16:90618212-90660587 (+)
SPRET/EiJ ENSMSPG00010020749
 protein coding gene Chr16:91742352-91784388 (+)
WSB/EiJ ENSIUOG00005017599
 protein coding gene Chr16:90728557-90770723 (+)



Homology
more
  • Human Ortholog
    SIM2, SIM bHLH transcription factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SIM2, SIM bHLH transcription factor 2
  • Synonyms
    bHLHe15, HMC13F06, HMC29C01, SIM
  • Links
    NCBI Gene ID: 6493
    UniProt: Q14190

  • Chr Location
    21q22.13; chr21:36699115-36749917 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    101 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.
Homozygous mutation of this gene results in postnatal lethality, cleft palate, malformed pterygoid processes, and aerophagia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1081
  • Tissues
    331
  • cDNA Data
    29
  • Literature Summary
    36
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20465 NCBI Gene Model | MGI Sequence Detail 41929 C57BL/6J ±  kb
    transcript NM_011377 RefSeq | MGI Sequence Detail 3670 ZRU/MplStud  
    polypeptide Q61079 UniProt | EBI | MGI Sequence Detail 657 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      Genomic 9
      cDNA 29
      Primer pair 8
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14415
    References
    more
    • Summaries
      All 169
      Developmental Gene Expression 36
      Diseases 7
      Gene Ontology 10
      Phenotypes 101
    • 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:385727 Harada K, et al., Preventing Differentiation Towards Primitive Macrophages in Stem Cells With Down Syndrome. Immunology. 2026 Mar;177(3):596-612
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory