Gene Gene information from NCBI Gene database.
Entrez ID 7291
Gene name Twist family bHLH transcription factor 1
Gene symbol TWIST1
Synonyms (NCBI Gene)
ACS3BPES2BPES3CRSCRS1CSOSCSSWCOSTWISTbHLHa38
Chromosome 7
Chromosome location 7p21.1
Summary This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of gen
SNPs SNP information provided by dbSNP.
35
SNP ID Visualize variation Clinical significance Consequence
rs104894054 G>C,T Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs104894055 G>A Pathogenic Non coding transcript variant, coding sequence variant, stop gained
rs104894057 T>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs104894058 C>A,G,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs104894059 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
263
miRTarBase ID miRNA Experiments Reference
MIRT006731 hsa-miR-214-3p Luciferase reporter assayqRT-PCRWestern blot 22540680
MIRT053174 hsa-miR-543 Luciferase reporter assayWestern blot 24699721
MIRT053509 hsa-miR-300 Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23105110
MIRT053510 hsa-miR-539-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23105110
MIRT053174 hsa-miR-543 Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23105110
Transcription factors Transcription factors information provided by TRRUST V2 database.
16
Transcription factor Regulation Reference
EZH2 Repression 23836662
FOXQ1 Activation 23723077
HDAC2 Repression 23836662
HIF1A Activation 23623921
HIF1A Unknown 21931630
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
104
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17690110
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601622 12428 ENSG00000122691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15672
Protein name Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)
Protein function Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of
PDB 2MJV , 8OSB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 109 160 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Subset of mesodermal cells.
Sequence
MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGV
GGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQR
TQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLY
QVLQSDELDSKMASCSYVAH
ERLSYAFSVWRMEGAWSMSASH
Sequence length 202
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Proteoglycans in cancer   Interleukin-4 and Interleukin-13 signaling
Regulation of RUNX2 expression and activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
340
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Common craniosynostosis syndromes Likely pathogenic rs1788580776 RCV006255191
Neurodevelopmental delay Likely pathogenic; Pathogenic rs104894054 RCV002274112
Robinow-Sorauf syndrome Pathogenic rs1788578357, rs1585616860, rs104894065, rs2486049961 RCV001333467
RCV000008445
RCV000008448
RCV003745304
Saethre-Chotzen syndrome Likely pathogenic; Pathogenic rs1585616825, rs2115396414, rs2115397248, rs2115396610, rs2115396574, rs1233220987, rs2115396651, rs2115396782, rs2115396578, rs757253926, rs1554441992, rs2115396671, rs2115396763, rs2115396985, rs1554441987
View all (52 more)
RCV001720281
RCV001388848
RCV001388570
RCV001788547
RCV001991195
RCV001971103
RCV002001290
RCV002035398
RCV001946626
RCV001974999
RCV001947045
RCV002047158
RCV001930899
RCV001952826
RCV001943496
RCV001973545
RCV002249196
RCV003225766
RCV003060092
RCV002899093
RCV002958978
RCV003021088
RCV000008437
RCV000008438
RCV000008439
RCV000008440
RCV000008441
RCV000008442
RCV000008444
RCV000008446
RCV001390391
RCV001059805
RCV003152984
RCV005227949
RCV003315104
RCV005228026
RCV003745304
RCV003781046
RCV003781049
RCV003782689
RCV003804220
RCV003795226
RCV005220948
RCV000625526
RCV003766897
RCV000533193
RCV000653734
RCV000653736
RCV000653735
RCV000653733
RCV001472415
RCV000698045
RCV000687499
RCV000695036
RCV000803541
RCV000799522
RCV000796206
RCV000984623
RCV000985276
RCV002550586
RCV001263196
RCV001027722
RCV001035938
RCV001312832
RCV001212895
RCV001204316
RCV001246515
RCV001250541
RCV001263197
RCV001263199
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coronal craniosynostosis Uncertain significance rs1585617012, rs1585617064 RCV000788996
RCV000788995
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 11342579, 17003487, 18219546, 20125191, 22839202, 25271085, 28814329, 30040876, 30651579, 39794020, 9792856
Adenocarcinoma Associate 17967182, 18286686, 28102292, 31876727
Adenocarcinoma Mucinous Associate 32840168, 34103667
Adenocarcinoma of Lung Associate 17967182, 21731750, 22272264, 28791412, 31970942, 38508329
Adenoma Associate 23029563, 32467409
Adenoma Pleomorphic Stimulate 26832177
Airway Obstruction Associate 28883453
Allan Herndon Dudley syndrome Associate 22515221
Alopecia Associate 27060448
Angina Unstable Associate 27494404