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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TWIST1
twist family bHLH transcription factor 1
Chromosome 7 Β· 7p21.1
NCBI Gene: 7291Ensembl: ENSG00000122691.13HGNC: HGNC:12428UniProt: Q15672
747PubMed Papers
24Diseases
0Drugs
96Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
embryonic camera-type eye formationE-box bindingDNA-binding transcription factor bindingnegative regulation of transcription by RNA polymerase IISaethre-Chotzen syndromeTWIST1-related craniosynostosisRobinow-Sorauf syndromeisolated oxycephaly
✦AI Summary

TWIST1 is a basic helix-loop-helix transcription factor that functions as a critical regulator of developmental and pathological processes. As a transcriptional regulator, TWIST1 inhibits myogenesis through interactions with E proteins and MYOD1, while also repressing pro-inflammatory cytokines 1. TWIST1 regulates gene expression through homodimer and heterodimer formation with differential outcomes: homodimers induce FGFR2 and POSTN expression, while heterodimers repress these genes and induce THBS1 expression. Beyond development, TWIST1 drives pathological fibrosis in multiple organs. In kidney fibrosis, TWIST1 expression increases in myofibroblasts following TGF-Ξ²1 stimulation and promotes fibroblast activation via downstream Prrx1 and TNC signaling; fibroblast-specific TWIST1 deletion reduces fibrosis in injury models 2. Similarly, in Crohn's disease intestinal fibrosis, TWIST1 highly expressed in FAP+ fibroblasts mediates ECM production, and TWIST1 inhibition ameliorates fibrosis 3. In cancer, TWIST1 promotes triple-negative breast cancer aggressiveness through epithelial-mesenchymal transition and cancer stem cell functions; its stability is regulated by the CDK1-USP29 deubiquitination axis 4. TWIST1 also contributes to atherosclerosis through GATA4-mediated transcriptional mechanisms that promote endothelial dysfunction and inflammation at disturbed flow sites 5. Additionally, TWIST1-TSG6 expression ratios predict mesenchymal stem cell potency and immunomodulatory capacity 6.

Sources cited
1
TWIST1 is highly expressed by FAP+ fibroblasts in intestinal fibrosis; TWIST1 inhibition ameliorates fibrosis in Crohn's disease models
PMID: 39024569
2
TWIST1 is increased in kidney myofibroblasts and promotes fibroblast activation via Prrx1/TNC signaling; fibroblast-specific TWIST1 deletion reduces kidney fibrosis
PMID: 39181396
3
TWIST1 stability in triple-negative breast cancer is regulated by CDK1-mediated phosphorylation of USP29 deubiquitinase; TWIST1 promotes EMT and cancer stem cell functions
PMID: 36782089
4
TWIST1 directly represses TSG6 expression; TWIST1/TSG6 ratios predict mesenchymal stem cell potency and anti-inflammatory activity
PMID: 37948519
5
TWIST1 is a bHLH transcription factor involved in normal development and pathogenesis; interacts with multiple miRNAs and lncRNAs in carcinogenesis
PMID: 33433357
6
Trabid deubiquitinase cleaves RNF8-induced K63 ubiquitination of TWIST1 to regulate HCC growth and metastasis
PMID: 29748601
7
GATA4-Twist1 signaling is enhanced at atheroprone disturbed flow sites and promotes endothelial dysfunction, inflammation, and atherosclerosis development
PMID: 30809744
Disease Associationsβ“˜24
Saethre-Chotzen syndromeOpen Targets
0.83Strong
TWIST1-related craniosynostosisOpen Targets
0.79Strong
Robinow-Sorauf syndromeOpen Targets
0.65Moderate
isolated oxycephalyOpen Targets
0.57Moderate
syndromic craniosynostosisOpen Targets
0.56Moderate
Sweeney-Cox syndromeOpen Targets
0.54Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
androgenetic alopeciaOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
isolated scaphocephalyOpen Targets
0.39Weak
coronary artery diseaseOpen Targets
0.37Weak
polydactylyOpen Targets
0.37Weak
isolated brachycephalyOpen Targets
0.37Weak
large artery strokeOpen Targets
0.35Weak
Neurodevelopmental delayOpen Targets
0.34Weak
atherosclerosisOpen Targets
0.34Weak
Myocardial IschemiaOpen Targets
0.34Weak
Ischemic strokeOpen Targets
0.33Weak
coronary atherosclerosisOpen Targets
0.33Weak
Craniosynostosis 1UniProt
Robinow-Sorauf syndromeUniProt
Saethre-Chotzen syndromeUniProt
Sweeney-Cox syndromeUniProt
Pathogenic Variants96
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup)Pathogenic
Saethre-Chotzen syndrome|not provided|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|TWIST1-related craniosynostosis
β˜…β˜…β˜†β˜†2026β†’ Residue 133
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)Pathogenic
Robinow-Sorauf syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|TWIST1-related craniosynostosis
β˜…β˜…β˜†β˜†2026β†’ Residue 71
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu)Likely pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Common craniosynostosis syndromes
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_000474.4(TWIST1):c.476T>A (p.Leu159His)Likely pathogenic
Saethre-Chotzen syndrome|TWIST1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 159
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 133
NM_000474.4(TWIST1):c.358C>G (p.Arg120Gly)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Saethre-Chotzen syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)Pathogenic
Sweeney-Cox syndrome|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|Saethre-Chotzen syndrome|not provided|TWIST1-related disorder|TWIST1-related craniosynostosis
β˜…β˜…β˜†β˜†2025β†’ Residue 129
NM_000474.4(TWIST1):c.431G>A (p.Ser144Asn)Likely pathogenic
not provided|TWIST1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 144
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)Pathogenic
TWIST1-related craniosynostosis|Saethre-Chotzen syndrome|Neurodevelopmental delay|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_000474.4(TWIST1):c.399_423dup (p.Lys142fs)Pathogenic
not provided|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 142
NM_000474.4(TWIST1):c.481C>T (p.Gln161Ter)Pathogenic
Sweeney-Cox syndrome|not provided|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 161
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter)Pathogenic
Saethre-Chotzen syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 103
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter)Pathogenic
Saethre-Chotzen syndrome|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 126
NM_000474.4(TWIST1):c.400_420dup (p.Ser140_Asp141insIleIleProThrLeuProSer)Pathogenic
Saethre-Chotzen syndrome|Saethre-Chotzen syndrome;TWIST1-related craniosynostosis
β˜…β˜…β˜†β˜†2024β†’ Residue 140
NM_000474.4(TWIST1):c.454G>C (p.Ala152Pro)Likely pathogenic
TWIST1-related disorder|TWIST1-related craniosynostosis;Saethre-Chotzen syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 152
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 101
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs)Pathogenic
Saethre-Chotzen syndrome;TWIST1-related craniosynostosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 45
NM_000474.4(TWIST1):c.176del (p.Gly59fs)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 59
NM_000474.4(TWIST1):c.419C>T (p.Ser140Leu)Likely pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 140
NM_000474.4(TWIST1):c.465C>G (p.Tyr155Ter)Pathogenic
TWIST1-related craniosynostosis;Saethre-Chotzen syndrome|Saethre-Chotzen syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 155
View on ClinVar β†—
Related Genes
ESR1Protein interaction100%STAT3Protein interaction98%EP300Protein interaction97%G3BP2Protein interaction96%KAT2BProtein interaction96%CDH2Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Heart
44%
Brain
6%
Liver
5%
Lung
4%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TWIST1ESR1STAT3EP300G3BP2KAT2BCDH2
PROTEIN STRUCTURE
Preparing viewer…
PDB8OSB Β· 2.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.45LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.78 [0.44–1.45]
RankingsWhere TWIST1 stands among ~20K protein-coding genes
  • #276of 20,598
    Most Researched747 Β· top 5%
  • #803of 5,498
    Most Pathogenic Variants96 Β· top quartile
  • #14,860of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedTWIST1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis in Crohn's disease.
PMID: 39024569
J Clin Invest Β· 2024
1.00
2
Transcription factor Twist1 drives fibroblast activation to promote kidney fibrosis via signaling proteins Prrx1/TNC.
PMID: 39181396
Kidney Int Β· 2024
0.90
3
Twist1 in human white adipose tissue and obesity.
PMID: 20943789
J Clin Endocrinol Metab Β· 2011
0.86
4
Exosomes of human adipose stem cells mitigate irradiation injury to salivary glands by inhibiting epithelial-mesenchymal transition through miR-199a-3p targeting Twist1 and regulating TGFΞ²1/Smad3 pathway.
PMID: 39897544
Theranostics Β· 2025
0.84
5
Gene expression of TWIST1 and ZBTB16 is regulated by methylation modifications during the osteoblastic differentiation of mesenchymal stem cells.
PMID: 30246336
J Cell Physiol Β· 2019
0.82