UniProtKB - Q8WVJ9 (TWST2_HUMAN)
Twist-related protein 2
TWIST2
Functioni
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 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.
By similarity1 PublicationGO - Molecular functioni
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: GO_Central
- protein dimerization activity Source: InterPro
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
GO - Biological processi
- cell differentiation Source: UniProtKB-KW
- developmental process Source: GO_Central
- negative regulation of apoptotic process Source: Ensembl
- negative regulation of osteoblast differentiation Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of cell migration Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8WVJ9 |
Reactomei | R-HSA-8878166, Transcriptional regulation by RUNX2 |
SignaLinki | Q8WVJ9 |
SIGNORi | Q8WVJ9 |
Names & Taxonomyi
Protein namesi | Recommended name: Twist-related protein 2Alternative name(s): Class A basic helix-loop-helix protein 39 Short name: bHLHa39 Dermis-expressed protein 1 Short name: Dermo-1 |
Gene namesi | Name:TWIST2 Synonyms:BHLHA39, DERMO1 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20670, TWIST2 |
MIMi | 607556, gene |
neXtProti | NX_Q8WVJ9 |
VEuPathDBi | HostDB:ENSG00000233608 |
Subcellular locationi
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Focal facial dermal dysplasia 3, Setleis type (FFDD3)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072927 | 109 | L → P in FFDD3. 1 Publication | 1 |
Ablepharon-macrostomia syndrome (AMS)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074675 | 75 | E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl. | 1 |
Barber-Say syndrome (BBRSAY)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074674 | 75 | E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048Ensembl. | 1 | |
Natural variantiVAR_074676 | 75 | E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl. | 1 | |
Natural variantiVAR_074677 | 78 | R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Ectodermal dysplasiaOrganism-specific databases
DisGeNETi | 117581 |
MalaCardsi | TWIST2 |
MIMi | 200110, phenotype 209885, phenotype 227260, phenotype |
OpenTargetsi | ENSG00000233608 |
Orphaneti | 920, Ablepharon macrostomia syndrome 1231, Barber-Say syndrome 1807, Focal facial dermal dysplasia type III |
PharmGKBi | PA134973713 |
Miscellaneous databases
Pharosi | Q8WVJ9, Tbio |
Genetic variation databases
BioMutai | TWIST2 |
DMDMi | 32699724 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127489 | 1 – 160 | Twist-related protein 2Add BLAST | 160 |
Proteomic databases
jPOSTi | Q8WVJ9 |
MassIVEi | Q8WVJ9 |
PaxDbi | Q8WVJ9 |
PeptideAtlasi | Q8WVJ9 |
PRIDEi | Q8WVJ9 |
ProteomicsDBi | 74799 |
PTM databases
iPTMneti | Q8WVJ9 |
PhosphoSitePlusi | Q8WVJ9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000233608, Expressed in endocervix and 155 other tissues |
ExpressionAtlasi | Q8WVJ9, baseline and differential |
Genevisiblei | Q8WVJ9, HS |
Organism-specific databases
HPAi | ENSG00000233608, Tissue enhanced (cervix) |
Interactioni
Subunit structurei
Efficient DNA binding requires dimerization with another bHLH protein.
Forms a heterodimer with TCF3/E12.
Also interacts with MEF2C (By similarity).
By similarityBinary interactionsi
Q8WVJ9
GO - Molecular functioni
- protein dimerization activity Source: InterPro
Protein-protein interaction databases
BioGRIDi | 125591, 16 interactors |
IntActi | Q8WVJ9, 16 interactors |
STRINGi | 9606.ENSP00000482581 |
Miscellaneous databases
RNActi | Q8WVJ9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 66 – 117 | bHLHPROSITE-ProRule annotationAdd BLAST | 52 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 63 | DisorderedSequence analysisAdd BLAST | 63 |
Phylogenomic databases
eggNOGi | KOG4447, Eukaryota |
GeneTreei | ENSGT00940000161996 |
HOGENOMi | CLU_112073_0_1_1 |
InParanoidi | Q8WVJ9 |
OMAi | SNQSYEE |
OrthoDBi | 1595261at2759 |
PhylomeDBi | Q8WVJ9 |
TreeFami | TF315153 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR015789, Twist-related |
PANTHERi | PTHR23349:SF70, PTHR23349:SF70, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
i Sequence
Sequence statusi: Complete.
10 20 30 40 50
MEEGSSSPVS PVDSLGTSEE ELERQPKRFG RKRRYSKKSS EDGSPTPGKR
60 70 80 90 100
GKKGSPSAQS FEELQSQRIL ANVRERQRTQ SLNEAFAALR KIIPTLPSDK
110 120 130 140 150
LSKIQTLKLA ARYIDFLYQV LQSDEMDNKM TSCSYVAHER LSYAFSVWRM
160
EGAWSMSASH
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 31 | R → L no nucleotide entry (PubMed:11062344).Curated | 1 | |
Sequence conflicti | 109 | L → V no nucleotide entry (PubMed:11062344).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074674 | 75 | E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048Ensembl. | 1 | |
Natural variantiVAR_074675 | 75 | E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl. | 1 | |
Natural variantiVAR_074676 | 75 | E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl. | 1 | |
Natural variantiVAR_074677 | 78 | R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication | 1 | |
Natural variantiVAR_072927 | 109 | L → P in FFDD3. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC017907 mRNA Translation: AAH17907.1 BC033168 mRNA Translation: AAH33168.1 BC103755 mRNA Translation: AAI03756.1 |
CCDSi | CCDS46558.1 |
RefSeqi | NP_001258822.1, NM_001271893.3 NP_476527.1, NM_057179.2 |
Genome annotation databases
Ensembli | ENST00000448943.2; ENSP00000405176.2; ENSG00000233608.4 ENST00000612363.2; ENSP00000482581.1; ENSG00000233608.4 ENST00000671947.1; ENSP00000500609.1; ENSG00000288335.1 ENST00000673387.1; ENSP00000500440.1; ENSG00000288335.1 |
GeneIDi | 117581 |
KEGGi | hsa:117581 |
MANE-Selecti | ENST00000612363.2; ENSP00000482581.1; NM_001271893.4; NP_001258822.1 |
UCSCi | uc010znx.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC017907 mRNA Translation: AAH17907.1 BC033168 mRNA Translation: AAH33168.1 BC103755 mRNA Translation: AAI03756.1 |
CCDSi | CCDS46558.1 |
RefSeqi | NP_001258822.1, NM_001271893.3 NP_476527.1, NM_057179.2 |
3D structure databases
AlphaFoldDBi | Q8WVJ9 |
SMRi | Q8WVJ9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125591, 16 interactors |
IntActi | Q8WVJ9, 16 interactors |
STRINGi | 9606.ENSP00000482581 |
PTM databases
iPTMneti | Q8WVJ9 |
PhosphoSitePlusi | Q8WVJ9 |
Genetic variation databases
BioMutai | TWIST2 |
DMDMi | 32699724 |
Proteomic databases
jPOSTi | Q8WVJ9 |
MassIVEi | Q8WVJ9 |
PaxDbi | Q8WVJ9 |
PeptideAtlasi | Q8WVJ9 |
PRIDEi | Q8WVJ9 |
ProteomicsDBi | 74799 |
Protocols and materials databases
Antibodypediai | 34502, 250 antibodies from 30 providers |
DNASUi | 117581 |
Genome annotation databases
Ensembli | ENST00000448943.2; ENSP00000405176.2; ENSG00000233608.4 ENST00000612363.2; ENSP00000482581.1; ENSG00000233608.4 ENST00000671947.1; ENSP00000500609.1; ENSG00000288335.1 ENST00000673387.1; ENSP00000500440.1; ENSG00000288335.1 |
GeneIDi | 117581 |
KEGGi | hsa:117581 |
MANE-Selecti | ENST00000612363.2; ENSP00000482581.1; NM_001271893.4; NP_001258822.1 |
UCSCi | uc010znx.2, human |
Organism-specific databases
CTDi | 117581 |
DisGeNETi | 117581 |
GeneCardsi | TWIST2 |
HGNCi | HGNC:20670, TWIST2 |
HPAi | ENSG00000233608, Tissue enhanced (cervix) |
MalaCardsi | TWIST2 |
MIMi | 200110, phenotype 209885, phenotype 227260, phenotype 607556, gene |
neXtProti | NX_Q8WVJ9 |
OpenTargetsi | ENSG00000233608 |
Orphaneti | 920, Ablepharon macrostomia syndrome 1231, Barber-Say syndrome 1807, Focal facial dermal dysplasia type III |
PharmGKBi | PA134973713 |
VEuPathDBi | HostDB:ENSG00000233608 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4447, Eukaryota |
GeneTreei | ENSGT00940000161996 |
HOGENOMi | CLU_112073_0_1_1 |
InParanoidi | Q8WVJ9 |
OMAi | SNQSYEE |
OrthoDBi | 1595261at2759 |
PhylomeDBi | Q8WVJ9 |
TreeFami | TF315153 |
Enzyme and pathway databases
PathwayCommonsi | Q8WVJ9 |
Reactomei | R-HSA-8878166, Transcriptional regulation by RUNX2 |
SignaLinki | Q8WVJ9 |
SIGNORi | Q8WVJ9 |
Miscellaneous databases
BioGRID-ORCSi | 117581, 12 hits in 1037 CRISPR screens |
GeneWikii | TWIST2 |
GenomeRNAii | 117581 |
Pharosi | Q8WVJ9, Tbio |
PROi | PR:Q8WVJ9 |
RNActi | Q8WVJ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000233608, Expressed in endocervix and 155 other tissues |
ExpressionAtlasi | Q8WVJ9, baseline and differential |
Genevisiblei | Q8WVJ9, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR015789, Twist-related |
PANTHERi | PTHR23349:SF70, PTHR23349:SF70, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TWST2_HUMAN | |
Accessioni | Q8WVJ9Primary (citable) accession number: Q8WVJ9 Secondary accession number(s): Q3SYL6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2003 |
Last sequence update: | March 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 171 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot