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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TWIST2
twist family bHLH transcription factor 2
Chromosome 2 Β· 2q37.3
NCBI Gene: 117581Ensembl: ENSG00000233608.6HGNC: HGNC:20670UniProt: Q8WVJ9
76PubMed Papers
23Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of osteoblast differentiationprotein bindingnucleusnucleoplasmBarber-Say syndromefocal facial dermal dysplasia type IIIablepharon macrostomia syndromeandrogenetic alopecia
✦AI Summary

TWIST2 is a basic helix-loop-helix (bHLH) transcription factor that functions as a molecular switch regulating gene expression in mesenchymal cell lineages 1. The protein binds to E-box DNA sequences and can either activate or repress target genes through direct DNA binding and recruitment of coactivators or repressors, as well as through protein-protein interactions 2. TWIST2 plays critical roles in multiple developmental processes, including negative regulation of osteoblast differentiation and myogenesis 1. In fusion-negative rhabdomyosarcoma, TWIST2 blocks muscle differentiation by inhibiting MYOD activity and controls H3K27 acetylation at distal enhancers through interactions with chr2 remodelers SMARCA4 and CHD3 3. The protein is also involved in regulating inflammatory responses and energy metabolism 1. Disease-wise, TWIST2 mutations cause Setleis syndrome, with loss-of-function mutations leading to upregulation of genes like CHR2 through disrupted competition with transcription factors such as ADD1/SREBP1c 4. TWIST2-expressing cells have been identified in human skeletal muscle, where they increase with aging and resistance exercise training 5. Additionally, TWIST2 contributes to chemoresistance in lung adenocarcinoma through HDAC4 super-enhancer-mediated regulation 6.

Sources cited
1
TWIST2 is a bHLH transcription factor that functions as a molecular switch in mesenchymal cell lineages and regulates osteogenesis and inflammatory responses
PMID: 25608809
2
TWIST2 binds E-box sequences and regulates genes through direct DNA binding and protein-protein interactions
PMID: 20935057
3
TWIST2 blocks muscle differentiation in rhabdomyosarcoma and controls chromatin remodeling through SMARCA4 and CHD3 interactions
PMID: 37115930
4
TWIST2 mutations cause Setleis syndrome and affect CHRDL1 gene regulation through competition with ADD1/SREBP1c
PMID: 37761873
5
TWIST2-expressing cells are present in human skeletal muscle and responsive to aging and exercise
PMID: 36374263
6
TWIST2 promotes chemoresistance in lung adenocarcinoma through HDAC4 super-enhancer regulation
PMID: 40222483
Disease Associationsβ“˜23
Barber-Say syndromeOpen Targets
0.72Strong
focal facial dermal dysplasia type IIIOpen Targets
0.70Moderate
ablepharon macrostomia syndromeOpen Targets
0.70Moderate
androgenetic alopeciaOpen Targets
0.51Moderate
focal facial dermal dysplasia type IIOpen Targets
0.47Moderate
focal facial dermal dysplasiaOpen Targets
0.45Moderate
hair colorOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
skin agingOpen Targets
0.40Weak
chronic obstructive pulmonary diseaseOpen Targets
0.36Weak
ArthropathyOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.33Weak
alopeciaOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.30Weak
MyelopathyOpen Targets
0.30Weak
ovarian neoplasmOpen Targets
0.29Weak
spondylosisOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
polycystic ovary syndromeOpen Targets
0.27Weak
Ablepharon-macrostomia syndromeUniProt
Barber-Say syndromeUniProt
Focal facial dermal dysplasia 3, Setleis typeUniProt
Pathogenic Variants7
NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys)Pathogenic
Ablepharon macrostomia syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_001271893.4(TWIST2):c.223G>C (p.Glu75Gln)Pathogenic
Barber-Say syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 75
NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)Pathogenic
Focal facial dermal dysplasia type III|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 119
NM_001271893.4(TWIST2):c.224A>C (p.Glu75Ala)Pathogenic
Barber-Say syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 75
NM_001271893.4(TWIST2):c.229_234dup (p.Gln77_Arg78dup)Pathogenic
Barber-Say syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 77
NM_001271893.4(TWIST2):c.168del (p.Ser57fs)Pathogenic
Focal facial dermal dysplasia type III
β˜†β˜†β˜†β˜†2011β†’ Residue 57
NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter)Pathogenic
Focal facial dermal dysplasia type III
β˜†β˜†β˜†β˜†2010β†’ Residue 65
View on ClinVar β†—
Related Genes
CD44Protein interaction96%RUNX2Protein interaction94%TCF4Protein interaction94%TCF3Protein interaction94%ZEB1Protein interaction94%TCF12Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Lung
29%
Heart
4%
Bone Marrow
3%
Liver
2%
Brain
0%
Gene Interaction Network
Click a node to explore
TWIST2CD44RUNX2TCF4TCF3ZEB1TCF12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WVJ9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.79Intermediate
Observed/Expected LoF0.15 [0.05–0.71]
RankingsWhere TWIST2 stands among ~20K protein-coding genes
  • #6,298of 20,598
    Most Researched76
  • #3,196of 5,498
    Most Pathogenic Variants7
  • #5,488of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedTWIST2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteome-Wide Mendelian Randomization Identifies Causal Links Between Blood Proteins and Acute Pancreatitis.
PMID: 36736436
Gastroenterology Β· 2023
1.00
2
TWIST2-mediated chromatin remodeling promotes fusion-negative rhabdomyosarcoma.
PMID: 37115930
Sci Adv Β· 2023
0.90
3
Mechanisms of Regulation of the
PMID: 37761873
Genes (Basel) Β· 2023
0.80
4
Redundant or separate entities?--roles of Twist1 and Twist2 as molecular switches during gene transcription.
PMID: 20935057
Nucleic Acids Res Β· 2011
0.70
5
Biological function and molecular mechanism of Twist2.
PMID: 25608809
Yi Chuan Β· 2015
0.60