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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
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
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
  • Synonyms
    AMS, BBRSAY, bHLHa39, DERMO1, FFDD3, SETLSS
  • Links
    NCBI Gene ID: 117581
    neXtProt AC: NX_Q8WVJ9

  • Chr Location
    2q37.3; chr2:238847934-238910548 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Twist2 mouse models; 3 with human TWIST2 associations

Human Disease Mouse Models
       Focal Facial Dermal Dysplasia 3, Setleis Type; FFDD3   OMIM: 227260 View 1 model
       Ablepharon-Macrostomia Syndrome; AMS   OMIM: 200110
Barber-Say Syndrome; BBRSAY   OMIM: 209885
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 3 alleles in 4 genetic backgrounds
    102 phenotypes from multigenic genotypes
    5 images
    83 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
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
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  • SNPs within 2kb
    404 from dbSNP Build 137
Protein
Information
less
  • UniProt
    2 Sequences
  • InterPro Domains
    IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Molecular
Reagents
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  • All nucleic 37
    cDNA 35
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-27048
References
more
  • Summaries
    All 124
    Developmental Gene Expression 25
    Diseases 2
    Gene Ontology 12
    Phenotypes 83
  • Earliest
    J:29655 Li L, et al., Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis. Dev Biol. 1995 Nov;172(1):280-92
  • Latest
    J:226649 Hamilton KE, et al., Loss of Stromal IMP1 Promotes a Tumorigenic Microenvironment in the Colon. Mol Cancer Res. 2015 Nov;13(11):1478-86

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
01/26/2016
MGI 6.02
The Jackson Laboratory