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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0023067
 protein coding gene Chr16:95301134-95346894 (+)
A/J MGP_AJ_G0023035
 protein coding gene Chr16:90828955-90870340 (+)
AKR/J MGP_AKRJ_G0023005
 protein coding gene Chr16:93614221-93656096 (+)
BALB/cJ MGP_BALBcJ_G0023037
 protein coding gene Chr16:91359151-91400910 (+)
C3H/HeJ MGP_C3HHeJ_G0022798
 protein coding gene Chr16:94123642-94165876 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023484
 protein coding gene Chr16:98325951-98376681 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020986
 protein coding gene Chr16:88683773-88726008 (+)
CAST/EiJ MGP_CASTEiJ_G0022317
 protein coding gene Chr16:94868689-94958154 (+)
CBA/J MGP_CBAJ_G0022767
 protein coding gene Chr16:102592822-102643997 (+)
DBA/2J MGP_DBA2J_G0022901
 protein coding gene Chr16:90719630-90761426 (+)
FVB/NJ MGP_FVBNJ_G0022875
 protein coding gene Chr16:89880027-89922433 (+)
LP/J MGP_LPJ_G0022971
 protein coding gene Chr16:94972725-95015439 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022896
 protein coding gene Chr16:106957498-107001447 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023502
 protein coding gene Chr16:94123824-94168949 (+)
PWK/PhJ MGP_PWKPhJ_G0022062
 protein coding gene Chr16:90980337-91024447 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021892
 protein coding gene Chr16:93666870-93711457 (+)
WSB/EiJ MGP_WSBEiJ_G0022368
 protein coding gene Chr16:94378897-94422532 (+)



Homology
more
  • Human Ortholog
    SIM2, SIM bHLH transcription factor 2
  • Vertebrate Orthologs
    2
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
    neXtProt AC: NX_Q14190
    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
    97 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
    17
  • GO References
    9
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
    1190
  • 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 163
      Developmental Gene Expression 36
      Diseases 7
      Gene Ontology 9
      Phenotypes 97
    • 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:345472 Lana-Elola E, et al., Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome. Sci Transl Med. 2024 Jan 24;16(731):eadd6883
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory