TWIST2 (twist family bHLH transcription factor 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 117581
Gene name Twist family bHLH transcription factor 2
Gene symbol TWIST2
Synonyms (NCBI Gene)
AMSBBRSAYDERMO1FFDD3SETLSSbHLHa39
Chromosome 2
Chromosome location 2q37.3
Summary The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gen
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT002714 hsa-miR-124-3p Microarray 15685193
MIRT002714 hsa-miR-124-3p Microarray;Other 15685193
MIRT438201 hsa-miR-138-5p Luciferase reporter assay 24171926
MIRT438201 hsa-miR-138-5p Luciferase reporter assay 24171926
MIRT438201 hsa-miR-138-5p Luciferase reporter assay 24171926
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
HIF1A Unknown 21931630
STAT3 Unknown 17909010
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 18598946, 25416956, 25814554, 28514442, 32296183, 32814053, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607556 20670 ENSG00000233608
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVJ9
Protein name Twist-related protein 2 (Class A basic helix-loop-helix protein 39) (bHLHa39) (Dermis-expressed protein 1) (Dermo-1)
Protein function Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Involved in postnatal gly
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 67 → 118 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymph
Sequence 
MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGSPTPGKRGKKGSPSAQS
FEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQV
LQSDEMDNKMTSCSYVAHERLSYAFSVWRMEGAWSMSASH
Sequence length 160
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Proteoglycans in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ablepharon macrostomia syndrome Pathogenic rs1553565140 RCV000190339
Barber-Say syndrome Pathogenic rs1553565143, rs1553565140, rs869320750 RCV000190338
RCV000190340
RCV000190341
Focal facial dermal dysplasia type III Pathogenic rs387906973, rs387906974, rs1574742341 RCV000023655
RCV000023656
RCV000033062
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
TWIST2-related disorder Likely benign rs1177711455, rs779250622 RCV003926687
RCV003962012
Show/Hide Text Mining Associations (44)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 31462237
Breast Neoplasms Stimulate 23133563
Breast Neoplasms Associate 30423315
Carcinoma Ductal Associate 30760857
Carcinoma Ductal Breast Associate 23133563
Carcinoma Hepatocellular Associate 36262967
Carcinoma Non Small Cell Lung Associate 36111260
Carcinoma Renal Cell Associate 29138866
Carcinoma Squamous Cell Associate 35340228, 35763651
Cholangiocarcinoma Associate 32020235