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Twist1 Gene Detail
Summary
  • Symbol
    Twist1
  • Name
    twist basic helix-loop-helix transcription factor 1
  • Synonyms
    bHLHa38, charlie chaplin, M-Twist, pdt, Pluridigite, Ska10, Skam10Jus
  • Feature Type
    protein coding gene
  • IDs
    MGI:98872
    NCBI Gene: 22160
  • Gene Overview
    MyGene.info: TWIST1
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:33957671-33959829 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 14.81 cM, cytoband B-C1
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98872
protein coding gene Chr12:33957671-33959831 (.)
129S1/SvImJ MGP_129S1SvImJ_G0019678
protein coding gene Chr12:32067212-32069359 (+)
A/J MGP_AJ_G0019644
protein coding gene Chr12:31105915-31108061 (+)
AKR/J MGP_AKRJ_G0019616
protein coding gene Chr12:32091316-32093462 (+)
BALB/cJ MGP_BALBcJ_G0019622
protein coding gene Chr12:31300315-31302461 (+)
C3H/HeJ MGP_C3HHeJ_G0019426
protein coding gene Chr12:31942624-31944770 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020069
protein coding gene Chr12:33002075-33004221 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017694
protein coding gene Chr12:30308582-30310730 (+)
CAST/EiJ MGP_CASTEiJ_G0018981
protein coding gene Chr12:27012818-27014964 (+)
CBA/J MGP_CBAJ_G0019398
protein coding gene Chr12:34055438-34057584 (+)
DBA/2J MGP_DBA2J_G0019511
protein coding gene Chr12:30905013-30907159 (+)
FVB/NJ MGP_FVBNJ_G0019501
protein coding gene Chr12:30676617-30680457 (+)
LP/J MGP_LPJ_G0019581
protein coding gene Chr12:32128544-32130690 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019537
protein coding gene Chr12:33739143-33741289 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020109
protein coding gene Chr12:31584588-31586734 (+)
PWK/PhJ MGP_PWKPhJ_G0018748
protein coding gene Chr12:25662691-25664921 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018536
protein coding gene Chr12:26259080-26261231 (+)
WSB/EiJ MGP_WSBEiJ_G0019030
protein coding gene Chr12:31839682-31841828 (+)



Homology
more
  • Human Ortholog
    TWIST1, twist family bHLH transcription factor 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TWIST1, twist family bHLH transcription factor 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST
  • Links
    NCBI Gene ID: 7291
    neXtProt AC: NX_Q15672
    UniProt: Q15672

  • Chr Location
    7p21.1; chr7:19113047-19117672 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Twist1 mouse models; 2 with human TWIST1 associations

Human Disease Mouse Models
      
IDs
View 8 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 7 alleles in 10 genetic backgrounds
    9 phenotypes from multigenic genotypes
    1 images
    64 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 embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size.
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 population 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
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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 ENSMUSG00000035799 Ensembl Gene Model | MGI Sequence Detail 2159 C57BL/6J ±  kb
    transcript ENSMUST00000049089 Ensembl | MGI Sequence Detail 1628 Not Applicable  
    polypeptide ENSMUSP00000040089 Ensembl | MGI Sequence Detail 206 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 67
      Genomic 4
      cDNA 44
      Primer pair 7
      Other 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-15305, MGI:1890569, MGI:2144752, MGI:3038444
    References
    more
    • Summaries
      All 293
      Developmental Gene Expression 183
      Diseases 5
      Gene Ontology 30
      Phenotypes 64
    • Earliest
      J:8293 Shedlovsky A, et al., Induction of recessive lethal mutations in the T/t-H-2 region of the mouse genome by a point mutagen. Genet Res. 1986 Apr;47(2):135-42
    • Latest
      J:266477 Wang Y, et al., Myocardial beta-Catenin-BMP2 signaling promotes mesenchymal cell proliferation during endocardial cushion formation. J Mol Cell Cardiol. 2018 Sep 8;123:150-158

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory