Twist2 twist basic helix-loop-helix transcription factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Twist2provided by MGI
Official Full Name: twist basic helix-loop-helix transcription factor 2provided by MGI
Primary source: MGI:MGI:104685
See related: Ensembl:ENSMUSG00000007805 AllianceGenome:MGI:104685
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Dermo1; bHLHa39
Summary: Enables DNA-binding transcription factor activity; chromatin binding activity; and protein domain specific binding activity. Involved in negative regulation of transcription, DNA-templated. Acts upstream of or within several processes, including face morphogenesis; negative regulation of cell differentiation; and negative regulation of macromolecule metabolic process. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; branchial arch; embryo mesenchyme; genitourinary system; and integumental system. Human ortholog(s) of this gene implicated in Barber-Say syndrome; ablepharon macrostomia syndrome; and focal dermal hypoplasia. Orthologous to human TWIST2 (twist family bHLH transcription factor 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 83.6), subcutaneous fat pad adult (RPKM 39.3) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 D; 1 46.24 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (91729183..91775756)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (91801461..91848034)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis.
Title: Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis.
Twist2 Reduced NLRP3-Induced Inflammation of Infantile Pneumonia via Regulation of Mitochondrial Permeability Transition by FOXO1.
Title: Twist2 Reduced NLRP3-Induced Inflammation of Infantile Pneumonia via Regulation of Mitochondrial Permeability Transition by FOXO1.
Twist2 promotes CD8(+) T-cell differentiation by repressing ThPOK expression.
Title: Twist2 promotes CD8(+) T-cell differentiation by repressing ThPOK expression.
Location of Twist2 during embryo implantation was detected by immunohistochemistry (IHC), which revealed that it was extensively expressed in endometrial glandular epithelium and luminal epithelium at implantation sites on Day 5. The number of implanted embryos after Twist2-siRNA interference was lower than in normal pregnancy.
Title: Role of epithelial-mesenchymal transition regulated by twist basic helix-loop-helix transcription factor 2 (Twist2) in embryo implantation in mice.
Tw2-tdTO(+) cells participate in lifelong maintenance of cardiac function, at least in part through de novo formation of CMs and fusion with preexisting CMs, as well as in the genesis of other cellular components of the adult heart.
Title: Identification of a multipotent Twist2-expressing cell population in the adult heart.
Twist2 partially retains histone deacetylase 7 (HDAC7) in the nucleus and recruits it to the Nur77 promoter region to repress Nur77 in positively selected thymocytes.
Title: Expression of Twist2 is controlled by T-cell receptor signaling and determines the survival and death of thymocytes.
Tw2 expression maintains progenitor cells in an undifferentiated state that is poised to initiate myogenesis in response to appropriate cues that extinguish Tw2 expression.
Title: A Twist2-dependent progenitor cell contributes to adult skeletal muscle.
The Twist2-Cre, Osterix-Cre and osteocalcin-Cre lines to generate conditional beta1 integrin deletions, were used to investigate the role of beta1 integrins on skeletal phenotype.
Title: The effect of conditional inactivation of beta 1 integrins using twist 2 Cre, Osterix Cre and osteocalcin Cre lines on skeletal phenotype.
Twist-2 was involved in endotoxin tolerance through inhibiting NF-kappaB transactivation and cytokines transcriptional activities.
Title: The effects of Twist-2 on liver endotoxin tolerance induced by a low dose of lipopolysaccharide.
Twist2 functions as a tumor suppressor in osteosarcoma cells.
Title: Twist2 functions as a tumor suppressor in murine osteosarcoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Twist2 (e-PCR), detects polymorphism
- UniSTS:546055

U36384 (e-PCR)
- UniSTS:125733

NoName (e-PCR)
- UniSTS:484852

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cornea development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of macrophage cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of macrophage cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of macrophage cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of macrophage cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of molecular function	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of myeloid cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of tumor necrosis factor production	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: twist-related protein 2

Names: dermis-expressed protein 1; twist homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007855.3 → NP_031881.1 twist-related protein 2

See identical proteins and their annotated locations for NP_031881.1

Status: VALIDATED

Source sequence(s)

AK011861, AV140163, BC090636

Consensus CDS

CCDS15166.1

UniProtKB/Swiss-Prot

Q9D030

UniProtKB/TrEMBL

A5D6P6

Related

ENSMUSP00000007949.4, ENSMUST00000007949.4

Conserved Domains (1) summary

cd19700
Location:51 → 132

bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins