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Q8WVJ9

- TWST2_HUMAN

UniProt

Q8WVJ9 - TWST2_HUMAN

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Protein

Twist-related protein 2

Gene

TWIST2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. multicellular organismal development Source: UniProtKB-KW
  3. negative regulation of osteoblast differentiation Source: UniProtKB
  4. negative regulation of transcription, DNA-templated Source: UniProtKB
  5. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:20670. TWIST2.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation. Cytoplasm 1 Publication
Note: Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

MIMi227260. phenotype.
Orphaneti1807. Focal facial dermal dysplasia type III.
PharmGKBiPA134973713.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 160160Twist-related protein 2PRO_0000127489Add
BLAST

Proteomic databases

PaxDbiQ8WVJ9.
PRIDEiQ8WVJ9.

PTM databases

PhosphoSiteiQ8WVJ9.

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

BgeeiQ8WVJ9.
CleanExiHS_TWIST2.
GenevestigatoriQ8WVJ9.

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

WithEntry#Exp.IntActNotes
ETS2P150362EBI-1797313,EBI-1646991

Protein-protein interaction databases

BioGridi125591. 4 interactions.
IntActiQ8WVJ9. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8WVJ9.
SMRiQ8WVJ9. Positions 67-125.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini66 – 11752bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG258515.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000261629.
HOVERGENiHBG019071.
InParanoidiQ8WVJ9.
KOiK09069.
OMAiDNKMSSC.
OrthoDBiEOG7TJ3M9.
PhylomeDBiQ8WVJ9.
TreeFamiTF315153.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311R → L no nucleotide entry (PubMed:11062344)Curated
Sequence conflicti109 – 1091L → V no nucleotide entry (PubMed:11062344)Curated

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.
XP_006712305.1. XM_006712242.1.
UniGeneiHs.422585.
Hs.745035.

Genome annotation databases

GeneIDi117581.
KEGGihsa:117581.
UCSCiuc010znx.2. human.

Polymorphism databases

DMDMi32699724.

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.
XP_006712305.1. XM_006712242.1.
UniGenei Hs.422585.
Hs.745035.

3D structure databases

ProteinModelPortali Q8WVJ9.
SMRi Q8WVJ9. Positions 67-125.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125591. 4 interactions.
IntActi Q8WVJ9. 2 interactions.

PTM databases

PhosphoSitei Q8WVJ9.

Polymorphism databases

DMDMi 32699724.

Proteomic databases

PaxDbi Q8WVJ9.
PRIDEi Q8WVJ9.

Protocols and materials databases

DNASUi 117581.
Structural Biology Knowledgebase Search...

Genome annotation databases

GeneIDi 117581.
KEGGi hsa:117581.
UCSCi uc010znx.2. human.

Organism-specific databases

CTDi 117581.
GeneCardsi GC02P239757.
HGNCi HGNC:20670. TWIST2.
MIMi 227260. phenotype.
607556. gene.
neXtProti NX_Q8WVJ9.
Orphaneti 1807. Focal facial dermal dysplasia type III.
PharmGKBi PA134973713.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG258515.
GeneTreei ENSGT00760000119097.
HOGENOMi HOG000261629.
HOVERGENi HBG019071.
InParanoidi Q8WVJ9.
KOi K09069.
OMAi DNKMSSC.
OrthoDBi EOG7TJ3M9.
PhylomeDBi Q8WVJ9.
TreeFami TF315153.

Miscellaneous databases

GeneWikii TWIST2.
GenomeRNAii 117581.
NextBioi 80218.
PROi Q8WVJ9.
SOURCEi Search...

Gene expression databases

Bgeei Q8WVJ9.
CleanExi HS_TWIST2.
Genevestigatori Q8WVJ9.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human Dermo-1 has attributes similar to twist in early bone development."
    Lee M.S., Lowe G., Flanagan S., Kuchler K., Glackin C.A.
    Bone 27:591-602(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Bone1 Publication.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: BrainImported, LungImported and Pancreas.
  3. Cited for: INVOLVEMENT IN FFDD3.

Entry informationi

Entry nameiTWST2_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 116 of the entry and version 1 of the sequence. [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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3