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Protein

Twist-related protein 2

Gene

TWIST2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 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.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8878166 Transcriptional regulation by RUNX2
SIGNORiQ8WVJ9

Names & Taxonomyi

Protein namesi
Recommended name:
Twist-related protein 2
Alternative 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
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000233608.3
HGNCiHGNC:20670 TWIST2
MIMi607556 gene
neXtProtiNX_Q8WVJ9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Focal facial dermal dysplasia 3, Setleis type (FFDD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.
See also OMIM:227260
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072927109L → P in FFDD3. 1 Publication1
Ablepharon-macrostomia syndrome (AMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.
See also OMIM:200110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467575E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049EnsemblClinVar.1
Barber-Say syndrome (BBRSAY)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.
See also OMIM:209885
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467475E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048EnsemblClinVar.1
Natural variantiVAR_07467675E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049EnsemblClinVar.1
Natural variantiVAR_07467778R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi117581
MalaCardsiTWIST2
MIMi200110 phenotype
209885 phenotype
227260 phenotype
OpenTargetsiENSG00000233608
Orphaneti920 Ablepharon macrostomia syndrome
1231 Barber-Say syndrome
1807 Focal facial dermal dysplasia type III
PharmGKBiPA134973713

Polymorphism and mutation databases

BioMutaiTWIST2
DMDMi32699724

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001274891 – 160Twist-related protein 2Add BLAST160

Proteomic databases

PaxDbiQ8WVJ9
PeptideAtlasiQ8WVJ9
PRIDEiQ8WVJ9
ProteomicsDBi74799

PTM databases

iPTMnetiQ8WVJ9
PhosphoSitePlusiQ8WVJ9

Expressioni

Tissue specificityi

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 lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules.1 Publication

Gene expression databases

BgeeiENSG00000233608 Expressed in 140 organ(s), highest expression level in endocervix
CleanExiHS_TWIST2
ExpressionAtlasiQ8WVJ9 baseline and differential
GenevisibleiQ8WVJ9 HS

Organism-specific databases

HPAiHPA062870

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 similarity

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125591, 10 interactors
IntActiQ8WVJ9, 9 interactors
STRINGi9606.ENSP00000405176

Structurei

3D structure databases

ProteinModelPortaliQ8WVJ9
SMRiQ8WVJ9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini66 – 117bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000261629
HOVERGENiHBG019071
InParanoidiQ8WVJ9
KOiK09069
OMAiDNKMSSC
OrthoDBiEOG091G07PB
PhylomeDBiQ8WVJ9
TreeFamiTF315153

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

Q8WVJ9-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:160
Mass (Da):18,124
Last modified:March 1, 2002 - v1
Checksum:i8F44750916940C0A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31R → L no nucleotide entry (PubMed:11062344).Curated1
Sequence conflicti109L → V no nucleotide entry (PubMed:11062344).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467475E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048EnsemblClinVar.1
Natural variantiVAR_07467575E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049EnsemblClinVar.1
Natural variantiVAR_07467675E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049EnsemblClinVar.1
Natural variantiVAR_07467778R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication1
Natural variantiVAR_072927109L → P in FFDD3. 1 Publication1

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
CCDSiCCDS46558.1
RefSeqiNP_001258822.1, NM_001271893.3
NP_476527.1, NM_057179.2
UniGeneiHs.422585
Hs.745035

Genome annotation databases

EnsembliENST00000448943; ENSP00000405176; ENSG00000233608
ENST00000612363; ENSP00000482581; ENSG00000233608
GeneIDi117581
KEGGihsa:117581
UCSCiuc010znx.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
CCDSiCCDS46558.1
RefSeqiNP_001258822.1, NM_001271893.3
NP_476527.1, NM_057179.2
UniGeneiHs.422585
Hs.745035

3D structure databases

ProteinModelPortaliQ8WVJ9
SMRiQ8WVJ9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125591, 10 interactors
IntActiQ8WVJ9, 9 interactors
STRINGi9606.ENSP00000405176

PTM databases

iPTMnetiQ8WVJ9
PhosphoSitePlusiQ8WVJ9

Polymorphism and mutation databases

BioMutaiTWIST2
DMDMi32699724

Proteomic databases

PaxDbiQ8WVJ9
PeptideAtlasiQ8WVJ9
PRIDEiQ8WVJ9
ProteomicsDBi74799

Protocols and materials databases

DNASUi117581
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000448943; ENSP00000405176; ENSG00000233608
ENST00000612363; ENSP00000482581; ENSG00000233608
GeneIDi117581
KEGGihsa:117581
UCSCiuc010znx.2 human

Organism-specific databases

CTDi117581
DisGeNETi117581
EuPathDBiHostDB:ENSG00000233608.3
GeneCardsiTWIST2
HGNCiHGNC:20670 TWIST2
HPAiHPA062870
MalaCardsiTWIST2
MIMi200110 phenotype
209885 phenotype
227260 phenotype
607556 gene
neXtProtiNX_Q8WVJ9
OpenTargetsiENSG00000233608
Orphaneti920 Ablepharon macrostomia syndrome
1231 Barber-Say syndrome
1807 Focal facial dermal dysplasia type III
PharmGKBiPA134973713
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000261629
HOVERGENiHBG019071
InParanoidiQ8WVJ9
KOiK09069
OMAiDNKMSSC
OrthoDBiEOG091G07PB
PhylomeDBiQ8WVJ9
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-8878166 Transcriptional regulation by RUNX2
SIGNORiQ8WVJ9

Miscellaneous databases

GeneWikiiTWIST2
GenomeRNAii117581
PROiPR:Q8WVJ9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000233608 Expressed in 140 organ(s), highest expression level in endocervix
CleanExiHS_TWIST2
ExpressionAtlasiQ8WVJ9 baseline and differential
GenevisibleiQ8WVJ9 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTWST2_HUMAN
AccessioniPrimary (citable) accession number: Q8WVJ9
Secondary accession number(s): Q3SYL6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2003
Last sequence update: March 1, 2002
Last modified: November 7, 2018
This is version 148 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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