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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

HCOP human homology predictions: TWIST2
Protein SuperFamily: basic helix-loop-helix transcription factor, Twist/Epicardin/Musculin types
Gene Tree: Twist2

Human
homologs
TWIST2, twist family bHLH transcription factor 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 117581
neXtProt AC: NX_Q8WVJ9

Human Synonyms: AMS, BBRSAY, bHLHa39, DERMO1, FFDD3, SETLSS

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

Disease Associations: (3) 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.
 
Human Diseases Modeled in Mice Using Twist2 (1)    Mutations 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: (35 annotations)
Process cell differentiation, cornea development in camera-type eye, ...
Component cytoplasm, nucleus, ...
Function chromatin binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (24 records)
Data Summary: Results (347)    Tissues (252)    Images (39)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 347
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA TWIST2 ; Xenbase twist2 ; ZFIN twist2    NEW 
Molecular
reagents
All nucleic(37) cDNA(35) Primer pair(1) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000021957 (Evidence)
Ensembl Gene Model ENSMUSG00000007805 (Evidence)
Entrez Gene 13345 (Evidence)
UniGene 9474
DFCI TC1581909
DoTS DT.490678
NIA Mouse Gene Index U000613
Consensus CDS Project CCDS15166.1
International Mouse Phenotyping Consortium Status Twist2
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(24) RefSeq(2) UniProt(2)
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:221356 Snowball J, et al., Mesenchymal Wnt signaling promotes formation of sternum and thoracic body wall. Dev Biol. 2015 May 15;401(2):264-75
All references(122)
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
08/25/2015
MGI 6.0
The Jackson Laboratory