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.
40
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 Transcription factors information provided by TRRUST V2 database.
2
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.
18
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ablepharon macrostomia syndrome Pathogenic rs1553565140 RCV000190339
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Barber-Say syndrome Pathogenic rs1553565143, rs1553565140, rs869320750 RCV000190338
RCV000190340
RCV000190341
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal facial dermal dysplasia type III Pathogenic rs387906973, rs387906974, rs1574742341 RCV000023655
RCV000023656
RCV000033062
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARBER SAY SYNDROME — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ECTODERMAL DYSPLASIA OF FACE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (150)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon Ablepharon BEFREE 26119818, 28369379
★★★★★
★☆☆☆☆
Found in Text Mining only
Ablepharon Ablepharon HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ablepharon macrostomia syndrome Ablepharon Macrostomia Syndrome Orphanet
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 31462237 Associate
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome GENOMICS_ENGLAND_DG 14069095, 26119818
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 26119818, 27196381, 31462237
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome ORPHANET_DG 26119818
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome UNIPROT_DG 26119818
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only