Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7291
Gene name Gene Name - the full gene name approved by the HGNC.
Twist family bHLH transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TWIST1
Synonyms (NCBI Gene) Gene synonyms aliases
ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT006731 hsa-miR-214-3p Luciferase reporter assay, qRT-PCR, Western blot 22540680
MIRT053174 hsa-miR-543 Luciferase reporter assay, Western blot 24699721
MIRT053509 hsa-miR-300 Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23105110
MIRT053510 hsa-miR-539-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23105110
MIRT053174 hsa-miR-543 Luciferase reporter assay, Microarray, qRT-PCR, Western blot 23105110
Transcription factors
Transcription factor Regulation Reference
EZH2 Repression 23836662
FOXQ1 Activation 23723077
HDAC2 Repression 23836662
HIF1A Activation 23623921
HIF1A Unknown 21931630
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601622 12428 ENSG00000122691
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Saethre-Chotzen Syndrome saethre-chotzen syndrome rs121909186, rs104894057, rs1554441989, rs104894054, rs1585617240, rs121909187, rs1585616948, rs121909188, rs121909189, rs1585617015, rs104894058, rs104894059, rs1554442015 N/A
SWEENEY-COX SYNDROME sweeney-cox syndrome rs1554442016 N/A
robinow-sorauf syndrome Robinow-Sorauf syndrome rs1585616860, rs104894065 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Brachycephaly isolated brachycephaly N/A N/A GenCC
Coronal craniosynostosis coronal craniosynostosis N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Associations from Text Mining Disease 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