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Q8WVJ9

- TWST2_HUMAN

UniProt

Q8WVJ9 - TWST2_HUMAN

Protein

Twist-related protein 2

Gene

TWIST2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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. chromatin binding Source: Ensembl
    2. DNA binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. RNA polymerase II transcription factor binding transcription factor activity Source: Ensembl
    5. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. cornea development in camera-type eye Source: Ensembl
    2. embryonic cranial skeleton morphogenesis Source: Ensembl
    3. face morphogenesis Source: Ensembl
    4. negative regulation of apoptotic process Source: Ensembl
    5. negative regulation of cell proliferation Source: Ensembl
    6. negative regulation of DNA binding Source: Ensembl
    7. negative regulation of myeloid cell differentiation Source: Ensembl
    8. negative regulation of osteoblast differentiation Source: UniProtKB
    9. negative regulation of transcription, DNA-templated Source: UniProtKB
    10. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. negative regulation of tumor necrosis factor production Source: Ensembl
    12. osteoblast differentiation Source: Ensembl
    13. positive regulation of keratinocyte proliferation Source: Ensembl

    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: Chromosome 2

    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
    3. transcription factor complex Source: Ensembl

    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.
    Orphaneti79133. Focal facial dermal dysplasia type I.
    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.
    HOGENOMiHOG000261629.
    HOVERGENiHBG019071.
    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

    MEEGSSSPVS PVDSLGTSEE ELERQPKRFG RKRRYSKKSS EDGSPTPGKR    50
    GKKGSPSAQS FEELQSQRIL ANVRERQRTQ SLNEAFAALR KIIPTLPSDK 100
    LSKIQTLKLA ARYIDFLYQV LQSDEMDNKM TSCSYVAHER LSYAFSVWRM 150
    EGAWSMSASH 160
    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:
    EMBL
    GenBank
    DDBJ
    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

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

    Polymorphism databases

    DMDMi32699724.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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

    Ensembli ENST00000448943 ; ENSP00000405176 ; ENSG00000233608 .
    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 79133. Focal facial dermal dysplasia type I.
    PharmGKBi PA134973713.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG258515.
    HOGENOMi HOG000261629.
    HOVERGENi HBG019071.
    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

    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 1, 2014
    This is version 115 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