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Tbio
TWIST2
Twist-related protein 2

Protein Summary
Description
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 proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors. 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 gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000448943
  • ENSP00000405176
  • ENSG00000233608
  • ENST00000612363
  • ENSP00000482581

Symbol
  • BHLHA39
  • DERMO1
  • AMS
  • FFDD3
  • BBRSAY
  • DERMO1
  • SETLSS
  • bHLHa39
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.84
PubMedID
0.73
histone modification site profile
0.65
cell type or tissue
0.61
molecular function
0.56


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 125.08   (req: < 5)
Gene RIFs: 40   (req: <= 3)
Antibodies: 209   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 125.08   (req: >= 5)
Gene RIFs: 40   (req: > 3)
Antibodies: 209   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Alopecia
1
1
1
42.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Alopecia
1
42.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
twist family bHLH transcription factor 2
697078
Mouse
MGI:104685
13345
Rat
RGD:621286
59327
Dog
twist family bHLH transcription factor 2
VGNC:48002
486185
Cow
twist family bHLH transcription factor 2
VGNC:36526
540060
Species
Name
OMA
EggNOG
Inparanoid
Macaque
twist family bHLH transcription factor 2
Mouse
Rat
Dog
twist family bHLH transcription factor 2
Cow
twist family bHLH transcription factor 2
Pathways (12)
Gene expression (Transcription) (R-HSA-74160)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
RNA Polymerase II Transcription
Reactome
Transcriptional regulation by RUNX2
Name
Explore in Pharos
Explore in Source
Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription
Transcriptional regulation by RUNX2
Gene Ontology Terms (11)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (89)
1 – 10 of 89
TCF4
Tbio
Family: TF
Novelty: 0.0019718
p_int: 0.999998942
p_ni: 9.98e-7
p_wrong: 6e-8
Score: 0.63
Data Source: BioPlex,STRINGDB
TCF3
Tbio
Family: TF
Novelty: 0.00112675
p_int: 0.999997523
p_ni: 0.000002477
Score: 0.645
Data Source: BioPlex,STRINGDB
TCF12
Tbio
Family: TF
Novelty: 0.00381424
p_int: 0.99999437
p_ni: 0.00000563
p_wrong: 1e-9
Score: 0.591
Data Source: BioPlex,STRINGDB
TWIST1
Tbio
Family: TF
Novelty: 0.0013639
Score: 0.891
Data Source: STRINGDB
CD44
Tbio
Novelty: 0.00011321
Score: 0.868
Data Source: STRINGDB
SNAI2
Tbio
Family: TF
Novelty: 0.00096495
Score: 0.839
Data Source: STRINGDB
FERD3L
Tbio
Family: TF
Novelty: 0.06797434
Score: 0.803
Data Source: STRINGDB
CDH1
Tbio
Novelty: 0.00010629
Score: 0.79
Data Source: STRINGDB
ZEB2
Tbio
Family: TF
Novelty: 0.00177023
Score: 0.738
Data Source: STRINGDB
TP53
Tchem
Family: TF
Novelty: 0.00001907
Score: 0.738
Data Source: STRINGDB
Publication Statistics
PubMed Score  125.08

PubMed score by year
PubTator Score  86.85

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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