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Twist2
Gene Detail
Symbol

Name
ID
Twist2
twist basic helix-loop-helix transcription factor 2
MGI:104685
Synonyms
bHLHa39, Dermo1
Feature Type
protein coding gene
Genetic Map
Chromosome 1
46.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr1:91801461-91848028 bp, + strand
From VEGA annotation of GRCm38

  46568 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:40594  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: basic helix-loop-helix transcription factor, Twist/Epicardin/Musculin types
Gene Tree: Twist2

Human
homologs
Human Homolog TWIST2, twist family bHLH transcription factor 2
NCBI Gene ID 117581
neXtProt AC  NX_Q8WVJ9
Human Synonyms  bHLHa39, DERMO1, FFDD3, SETLSS
Human Chr (Location)  2q37.3; chr2:238848032-238910541 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human TWIST2
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from 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.
 
Alleles Annotated to Human Diseases(2)    Phenotype Images(5)
Interactions
Twist2 interacts with 120 markers (Mir7-1, Mir15a, Mir16-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (36 annotations)
Process cell differentiation, cornea development in camera-type eye, ...
Component cytoplasm, nucleus, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (22 records)
Data Summary: Results (347)    Tissues (252)    Images (39)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 347
cDNA source data(35)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(37) cDNA(35) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000021957 (Evidence)
Ensembl Gene ModelENSMUSG00000007805 (Evidence)
Entrez Gene13345 (Evidence)
UniGene9474
DFCITC1581909
DoTSDT.490678
NIA Mouse Gene IndexU000613
Consensus CDS ProjectCCDS15166.1
International Mouse Knockout Project StatusTwist2
Sequences
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 sequences
All sequences(23) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(404 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Protein Ontology PR:000016847 twist-related protein 2
References
(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:213868 Nadeau V, et al., Essential role of the ERK/MAPK pathway in blood-placental barrier formation. Development. 2014 Jul;141(14):2825-37
All references(110)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-27048

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
12/09/2014
MGI 5.20
The Jackson Laboratory