About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:91729183-91775750 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 46.24 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1330 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104685
 protein coding gene Chr1:91729183-91775756 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016313
 protein coding gene Chr1:93358404-93406766 (+)
A/J MGP_AJ_G0016294
 protein coding gene Chr1:89999197-90047473 (+)
AKR/J MGP_AKRJ_G0016255
 protein coding gene Chr1:92669781-92718035 (+)
BALB/cJ MGP_BALBcJ_G0016250
 protein coding gene Chr1:90181956-90228242 (+)
C3H/HeJ MGP_C3HHeJ_G0016079
 protein coding gene Chr1:92890277-92937517 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016709
 protein coding gene Chr1:96921163-96967428 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014427
 protein coding gene Chr1:84246367-84293455 (+)
CAST/EiJ MGP_CASTEiJ_G0015664
 protein coding gene Chr1:92234407-92281126 (+)
CBA/J MGP_CBAJ_G0016055
 protein coding gene Chr1:100033320-100087315 (+)
DBA/2J MGP_DBA2J_G0016158
 protein coding gene Chr1:89217104-89263231 (+)
FVB/NJ MGP_FVBNJ_G0016157
 protein coding gene Chr1:88262832-88308791 (+)
LP/J MGP_LPJ_G0016229
 protein coding gene Chr1:94526325-94576145 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016182
 protein coding gene Chr1:103252466-103301418 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016749
 protein coding gene Chr1:92691560-92738907 (+)
PWK/PhJ MGP_PWKPhJ_G0015448
 protein coding gene Chr1:88637730-88685790 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015231
 protein coding gene Chr1:91620693-91669024 (+)
WSB/EiJ MGP_WSBEiJ_G0015722
 protein coding gene Chr1:92497791-92546989 (+)



Homology
more
  • Human Ortholog
    TWIST2, twist family bHLH transcription factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TWIST2, twist family bHLH transcription factor 2
  • Synonyms
    AMS, BBRSAY, bHLHa39, DERMO1, FFDD3, SETLSS
  • Links
    NCBI Gene ID: 117581
    neXtProt AC: NX_Q8WVJ9
    UniProt: Q8WVJ9

  • Chr Location
    2q37.3; chr2:238848032-238910534 (+)  GRCh38
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
less
  • Phenotype Summary
    49 phenotypes from 3 alleles in 4 genetic backgrounds
    115 phenotypes from multigenic genotypes
    5 images
    198 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.
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
less
  • All GO Annotations
    51
  • GO References
    14
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
    1252
  • Tissues
    333
  • cDNA Data
    36
  • Literature Summary
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000007805 Ensembl Gene Model | MGI Sequence Detail 46568 C57BL/6J ±  kb
    transcript ENSMUST00000186075 Ensembl | MGI Sequence Detail 2525 Not Applicable  
    polypeptide ENSMUSP00000139531 Ensembl | MGI Sequence Detail 160 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000016847 twist-related protein 2
      (term hierarchy)
    • InterPro Domains
      IPR050283 E-box Binding Transcriptional Regulators
      IPR036638 Helix-loop-helix DNA-binding domain superfamily
      IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
      IPR047094 Twist-related protein 2, basic helix-loop-helix domain
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 36
      Primer pair 3
      Other 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-27048
    References
    more
    • Summaries
      All 265
      Developmental Gene Expression 46
      Diseases 1
      Gene Ontology 14
      Phenotypes 198
    • 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:353578 Paramore SV, et al., Mesenchymal Vangl1 and Vangl2 facilitate airway elongation and widening independently of the planar cell polarity complex. Development. 2024 Aug 15;151(16):dev202692
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory