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Twist2 Gene Detail
Summary
  • Symbol
    Twist2
  • Name
    twist basic helix-loop-helix transcription factor 2
  • Synonyms
    bHLHa39, Dermo1
  • Feature Type
    protein coding gene
  • IDs
    MGI:104685
    NCBI Gene: 13345
  • Gene Overview
    MyGene.info: TWIST2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:91801461-91848028 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46568 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 46.24 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    TWIST2, twist family bHLH transcription factor 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TWIST2, twist family bHLH transcription factor 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AMS, BBRSAY, bHLHa39, DERMO1, FFDD3, SETLSS
  • Links
    NCBI Gene ID: 117581
    neXtProt AC: NX_Q8WVJ9
    UniProt: Q8WVJ9

  • Chr Location
    2q37.3; chr2:238848032-238910548 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with human TWIST2 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 3 alleles in 4 genetic backgrounds
    109 phenotypes from multigenic genotypes
    5 images
    104 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
    7
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Twist2
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
Deletion of this gene results in high postnatal lethality. Progressive growth retardation is observed with adipose tissue deficiency, skin, hair and muscle abnormalities, as well as hematopoietic and lymphoid organ defects including the spleen, thymus, and liver.
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021957 VEGA Gene Model | MGI Sequence Detail 46568 C57BL/6J ±  kb
transcript OTTMUST00000052122 VEGA | MGI Sequence Detail 1329 Not Applicable  
polypeptide OTTMUSP00000024651 VEGA | MGI Sequence Detail 160 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    402 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 37
    cDNA 35
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-27048
References
more
  • Summaries
    All 157
    Developmental Gene Expression 32
    Diseases 1
    Gene Ontology 12
    Phenotypes 104
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:246973 Liu N, et al., A Twist2-dependent progenitor cell contributes to adult skeletal muscle. Nat Cell Biol. 2017 Mar;19(3):202-213

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
12/05/2017
MGI 6.11
The Jackson Laboratory