TWIST2 (twist family bHLH transcription factor 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
117581
Gene name Gene Name - the full gene name approved by the HGNC.
Twist family bHLH transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TWIST2
Synonyms (NCBI Gene) Gene synonyms aliases
AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AMS, BBRSAY, FFDD3
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(40)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
HIF1A Unknown 21931630
STAT3 Unknown 17909010
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0005515 Function Protein binding IPI 18598946, 25416956, 25814554, 28514442, 32296183, 32814053
GO:0005634 Component Nucleus IDA 11062344
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607556 20670 ENSG00000233608
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Barber say syndrome Barber Say syndrome, Barber-Say syndrome rs1553565143, rs1553565140, rs869320750 26119818
Cafe-au-lait spot Cafe au lait spots, multiple rs1057518792, rs1555613206, rs1555608663
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Ectodermal dysplasia Ectodermal Dysplasia rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Barber Say Syndrome Barber-Say syndrome GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Alzheimer disease Alzheimer disease GWAS
Show/Hide Text Mining Associations (44)
Associations from Text Mining
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