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 basic helix-loop-helix transcription factor 2
NCBI Gene ID		117581
neXtProt AC		NX_Q8WVJ9
Human Synonyms		bHLHa39, DERMO1, FFDD3, SETLSS
Human Chr (Location)		2q37.3; chr2:239756673-239795893 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human TWIST2

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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(1)   

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: (21 records)
Data Summary: Results (161)    Tissues (58)    Images (34)
Theiler Stages: 15, 17, 18, 19, 20, 21, 23

Assay Type	Results
RNA in situ	161

cDNA source data(34)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(36) cDNA(34) 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 Knockout Project Status	Twist2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021957	VEGA Gene Model | MGI Sequence Detail	46568	C57BL/6J
transcript	OTTMUST00000052122	VEGA | MGI Sequence Detail	1329	Not Applicable
polypeptide	OTTMUSP00000024651	VEGA | MGI Sequence Detail	160	Not Applicable

All sequences(20) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(327 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR011598	Helix-loop-helix domain
InterPro	IPR015789	Twist
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:193400 Domyan ET, et al., Roundabout receptors are critical for foregut separation from the body wall. Dev Cell. 2013 Jan 14;24(1):52-63
All references(95)

Other accession IDs

MGD-MRK-27048