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TWIST1 Gene

protein-coding   GIFtS: 63
GCID: GC07M019121

Twist Family BHLH Transcription Factor 1

(Previous names: blepharophimosis, epicanthus inversus and ptosis 3, acrocephalosyndactyly...)
(Previous symbols: ACS3, BPES3, TWIST, CRS)
  See TWIST1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Twist Family BHLH Transcription Factor 11 2     SCS2 5
TWIST1 2 3     Acrocephalosyndactyly 31
ACS31 2 5     Blepharophimosis, Epicanthus Inversus And Ptosis 31
BPES31 2     Saethre-Chotzen Syndrome1
CRS1 2     Twist Homolog 1 (Drosophila)1
craniosynostosis1 2     BPES22
Twist Basic Helix-Loop-Helix Transcription Factor 11 2     B-HLH DNA Binding Protein2
Class A Basic Helix-Loop-Helix Protein 382 3     Twist Homolog 12
H-twist2 3     TWIST Homolog Of Drosophila2
bHLHa382 3     Twist-Related Protein 12
CRS12 5     BHLHA383

External Ids:    HGNC: 124281   Entrez Gene: 72912   Ensembl: ENSG000001226917   OMIM: 6016225   UniProtKB: Q156723   

Export aliases for TWIST1 gene to outside databases

Previous GC identifers: GC07M018800 GC07M018900 GC07M018901 GC07M018930


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TWIST1 Gene:
Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and
differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with
another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in
adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in
patients with Saethre-Chotzen syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for TWIST1 Gene:
TWIST1 (twist family bHLH transcription factor 1) is a protein-coding gene. Diseases associated with TWIST1 include saethre-chotzen syndrome, and robinow sorauf syndrome. GO annotations related to this gene include protein homodimerization activity and transcription factor binding. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672
Function: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting
trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction
probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such
as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E
proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression
of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression.
Heterodimerization is also required for osteoblast differentiation

Gene Wiki entry for TWIST1 (Twist transcription factor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TWIST1 gene promoter:
         AREB6   Pax-3   p53   AP-1   ATF-2   MyoD   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTWIST1 promoter sequence
   Search Chromatin IP Primers for TWIST1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TWIST1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p21.2   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p21

TWIST1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TWIST1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M019121:  view genomic region     (about GC identifiers)

Start:
19,060,614 bp from pter      End:
19,157,295 bp from pter
Size:
96,682 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 19,206,542-19,208,746     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672 (See protein sequence)
Recommended Name: Twist-related protein 1  
Size: 202 amino acids; 20954 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Homodimer or heterodimer with E
proteins such as TCF3. ID1 binds preferentially to TCF3 but does not interact efficiently with TWIST1 so ID1
levels control the amount of TCF3 available to dimerize with TWIST1 and thus determine the type of dimer formed
(By similarity)
Secondary accessions: A4D128 Q92487 Q99804

Explore the universe of human proteins at neXtProt for TWIST1: NX_Q15672

Explore proteomics data for TWIST1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TWIST1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000465.1  
    ENSEMBL proteins: 
     ENSP00000416986   ENSP00000346582   ENSP00000242261  

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    antibodies-online proteins for TWIST1 (14 products) 

     
    antibodies-online peptides for TWIST1

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    antibodies-online antibodies for TWIST1 (82 products) 

    TWIST1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q15672

    ProtoNet protein and cluster: Q15672

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Find genes that share domains with TWIST1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TWST1_HUMAN, Q15672
    Function: Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting
    trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction
    probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such
    as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E
    proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression
    of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression.
    Heterodimerization is also required for osteoblast differentiation

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA17332325
    GO:0003700sequence-specific DNA binding transcription factor activity ----
    GO:0005515protein binding IPI18504427
    GO:0008134transcription factor binding IPI15545268
    GO:0019904protein domain specific binding IEA--
         
    Find genes that share ontologies with TWIST1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TWIST1:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Twist1):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size/body  limbs/digits/tail  mortality/aging  muscle 
     nervous system  skeleton 

    Find genes that share phenotypes with TWIST1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TWIST1: Twist1tm2.1Bhr Twist1tm1Bhr

       genOway: Develop your customized and physiologically relevant rodent model for TWIST1

    miRNA
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    miRTarBase miRNAs that target TWIST1:
    hsa-mir-214-3p (MIRT006731)

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    Selected qRT-PCR Assays for microRNAs that regulate TWIST1 (see all 32):
    hsa-miR-3678-3p hsa-miR-300 hsa-miR-25 hsa-miR-4315 hsa-miR-138-2* hsa-miR-3916 hsa-miR-4267 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidTWIST1 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    PureStem SK11, NCr-fac & Meso-prx Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12617) for TWIST1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TWST1_HUMAN, Q15672: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    chloroplast2
    cytoskeleton2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10749989

    Find genes that share ontologies with TWIST1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TWIST1 About    
    See pathways by source

    SuperPathContained pathways About
    1Proteoglycans in cancer
    Proteoglycans in cancer
    2Notch-mediated HES/HEY network
    Notch-mediated HES/HEY network
    3Neural Crest Differentiation
    Neural Crest Differentiation
    4HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    5Adipogenesis
    Adipogenesis


    Find genes that share SuperPaths with TWIST1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TWIST1
        Inhibition of Ribosome Biogenesis by p14(ARF)

    4 BioSystems Pathways for TWIST1
        Adipogenesis
    Neural Crest Differentiation
    HIF-2-alpha transcription factor network
    Notch-mediated HES/HEY network


    1 Kegg Pathway  (Kegg details for TWIST1):
        Proteoglycans in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TWIST1 (see all 6): 
              Osteogenesis in human mouse rat
              WNT Signaling Targets in human mouse rat
              Breast Cancer in human mouse rat
              Cellular Senescence in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TWIST1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TWIST1 (Q156721, 2, 3 ENSP000002422614) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS2P150361, 3, ENSP000003533444EBI-1797287,EBI-1646991 I2D: score=1 STRING: ENSP00000353344
    SETD8Q9NQR11, 2, ENSP000003329954EBI-1797287,EBI-1268946 MINT-8313326 MINT-8313292 MINT-8309424 MINT-8313257 MINT-8313339 MINT-8313305 STRING: ENSP00000332995
    KAT2BQ928311, 3, ENSP000002637544EBI-1797287,EBI-477430 I2D: score=2 STRING: ENSP00000263754
    RELAQ042062, 3, ENSP000003842734MINT-8313257 I2D: score=2 STRING: ENSP00000384273
    HDAC1Q135472, ENSP000003626494MINT-8313182 MINT-8309424 STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 61):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17690110
    GO:0001503ossification TAS11001584
    GO:0001649osteoblast differentiation IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0001764neuron migration IEA--

    Find genes that share ontologies with TWIST1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TWIST1 (TWST1)

    3 Novoseek inferred chemical compound relationships for TWIST1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paclitaxel 15.3 21 20017221 (5), 14724576 (4), 17230521 (3), 20079104 (3)
    tyrosine 0 1 16831897 (1)
    estrogen 0 2 15041725 (1), 19540555 (1)



    Find genes that share compounds with TWIST1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TWIST1 gene: 
    NM_000474.3  

    Unigene Clusters for TWIST1:

    Twist basic helix-loop-helix transcription factor 1
    Hs.66744  [show with all ESTs], Hs.644998  [show with all ESTs]
    Unigene Representative Sequences: NM_000474, Y11177
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000443687 ENST00000354571 ENST00000242261(uc003sum.3)
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    hsa-miR-3678-3p hsa-miR-300 hsa-miR-25 hsa-miR-4315 hsa-miR-138-2* hsa-miR-3916 hsa-miR-4267 hsa-miR-298
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    Additional mRNA sequence: 

    Y11177.1 Y11179.1 

    5 DOTS entries:

    DT.100695317  DT.100675319  DT.100766060  DT.100836033  DT.121052207 

    Selected AceView cDNA sequences (see all 52):

    NM_000474 CR619156 AI927089 BC036704 BX117494 BQ959402 AI220198 CR595340 
    AI559894 CA436759 AW274606 AI678806 Y11178 BU624480 BX459175 BX403883 
    BU632186 AI953466 AI561183 BU619355 BX438346 CD678812 BX423119 BX336087 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TWIST1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAAATGCA
    TWIST1 Expression
    About this image


    TWIST1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 16 entries
             Presumptive Suture Cells Rostral Sutures
             Mesenchymal Precursor Cells (STRO-3 selected)
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Pre-endocardial Cells Cardiogenic Mesoderm
             Cardiac progenitor cells (Sca1+)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
     
     Somite (Muscoskeletal System)    fully expand to see all 4 entries
             Sacral Sclerotome Cells Sacral Mesenchymal Sclerotome
    TWIST1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TWIST1 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.66744 Hs.644998

    UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672
    Tissue specificity: Subset of mesodermal cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TWIST1 (see all 6): 
              Osteogenesis in human mouse rat
              WNT Signaling Targets in human mouse rat
              Breast Cancer in human mouse rat
              Cellular Senescence in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for TWIST1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Twist11 , 5 twist homolog 1 (Drosophila)5
    twist basic helix-loop-helix transcription factor 11
    92.08(n)1
    94.06(a)1
      12 (14.81 cM)5
    221601  NM_011658.21  NP_035788.11 
     339576715 
    chicken
    (Gallus gallus)
    Aves TWIST11 twist homolog 1 (Drosophila) 87.83(n)
    87.83(a)
      395491  NM_204739.1  NP_990070.1 
    lizard
    (Anolis carolinensis)
    Reptilia TWIST16
    Twist1; Uncharacterized protein
    81(a)
    1 ↔ 1
    6(28648520-28649164)
    African clawed frog
    (Xenopus laevis)
    Amphibia twist1-A2 twist homolog 1 84.95(n)    M27730.1 
    zebrafish
    (Danio rerio)
    Actinopterygii twist12 twist1 78.71(n)   30175  AF205259.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta twi6
    twist
    17(a)
    1 → many
    2R(18933631-18935849)


    ENSEMBL Gene Tree for TWIST1 (if available)
    TreeFam Gene Tree for TWIST1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TWIST1 gene
    NHLH12  TWIST22  HAND22  TAL12  NHLH22  LYL12  TAL22  TCF152  
    SCXB2  HAND12  SCXA2  
    5 SIMAP similar genes for TWIST1 using alignment to 3 protein entries:     TWST1_HUMAN (see all proteins):
    TWIST2    TAL2    NHLH2    TCF24    BHLHE22

    Find genes that share paralogs with TWIST1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TWIST1 (see all 137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0152194
    Saethre-Chotzen syndrome (SCS)4--see VAR_0152192 I V mis40--------
    VAR_0044954
    Saethre-Chotzen syndrome (SCS)4--see VAR_0044952 Q P mis40--------
    VAR_0349854
    Craniosynostosis 1 (CRS1)4--see VAR_0349852 A T mis40--------
    VAR_0044964
    Saethre-Chotzen syndrome (SCS)4--see VAR_0044962 L P mis40--------
    VAR_0349864
    Craniosynostosis 1 (CRS1)4--see VAR_0349862 S L mis40--------
    rs1048940581,2
    Cpathogenic119130640(-) CTCACG/TAGCGG 2 E * stg10--------
    rs1048940591,2
    Cpathogenic119130715(-) GGTACA/GTCGAC 2 I V mis10--------
    rs1048940571,2
    Cpathogenic119130825(-) GCGCCA/CGCGCA 2 Q P mis10--------
    rs1048940541,2
    Cpathogenic119130872(-) TCTTAA/C/GGAGGA 3 * Y stg10--------
    rs1048940651,2
    Cpathogenic119130970(-) CGGCCC/TAGGGC 2 Q * stg10--------

    HapMap Linkage Disequilibrium report for TWIST1 (19060614 - 19157295 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TWIST1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv483166CNV Complex15286789

    Human Gene Mutation Database (HGMD): TWIST1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing TWIST1
    DNA2.0 Custom Variant and Variant Library Synthesis for TWIST1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601622   
    OMIM disorders: 101400  123100  180750  
    UniProtKB/Swiss-Prot: TWST1_HUMAN, Q15672
  • Saethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal
    synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and
    clinodactyly. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Robinow-Sorauf syndrome (RSS) [MIM:180750]: An autosomal dominant syndrome characterized by
    craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits,
    strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to
    Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a
    bifid or partially duplicated hallux. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Craniosynostosis 1 (CRS1) [MIM:123100]: A primary abnormality of skull growth involving premature fusion
    of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain
    resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated
    promptly to avoid permanent neurodevelopmental disability. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for TWIST1 (see all 23):    
    About MalaCards
    saethre-chotzen syndrome    robinow sorauf syndrome    saethre-chotzen syndrome with eyelid anomalies    twist1-related craniosynostosis
    craniosynostosis, type 1    plagiocephaly    craniosynostosis    baller-gerold syndrome
    blepharophimosis    muenke syndrome    acrocephalosyndactylia    radioulnar synostosis
    tongue squamous cell carcinoma    intracranial hypertension    pediatric osteosarcoma    synostosis
    hyper ige syndrome    crouzon syndrome    nephroblastoma    osteosarcoma

    2 diseases from the University of Copenhagen DISEASES database for TWIST1:
    Acrocephalosyndactylia     Craniosynostosis

    Find genes that share disorders with TWIST1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TWIST1 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    saethre-chotzen syndrome 97.9 75 10094188 (5), 10649491 (3), 9585583 (3), 14513358 (3) (see all 36)
    craniosynostosis 91.3 53 11748846 (3), 15099347 (3), 17414280 (3), 12407713 (2) (see all 34)
    synostosis 77.6 6 15253176 (1), 17552943 (1), 9585583 (1), 19483581 (1)
    muenke syndrome 74.3 1 17070479 (1)
    pfeiffer syndrome 73 1 11173845 (1)
    baller-gerold syndrome 68.6 3 11754069 (2), 9934984 (1)
    brachycephaly 67.1 1 9585583 (1)
    metastasis 60.8 88 17987801 (4), 16822877 (4), 18297062 (3), 18635960 (3) (see all 32)
    clinodactyly 57.5 1 9585583 (1)
    breast cancer 50 26 15864483 (3), 17437280 (2), 18062917 (2), 16322226 (2) (see all 17)

    GeneTests: TWIST1
    GeneReviews: TWIST1
    Genetic Association Database (GAD): TWIST1
    Human Genome Epidemiology (HuGE) Navigator: TWIST1 (10 documents)

    Export disorders for TWIST1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TWIST1 gene, integrated from 10 sources (see all 401):
    (articles sorted by number of sources associating them with TWIST1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. (PubMed id 17343269)1, 2, 3, 4, 9 Seto M.L.... Cunningham M.L. (Am. J. Med. Genet. A 2007)
    2. The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart. (PubMed id 8995765)1, 2, 3 Bourgeois P....Perrin-Schmitt F. (Mamm. Genome 1996)
    3. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. (PubMed id 8988167)1, 2, 9 el Ghouzzi V....Bonaventure J. (Nat. Genet. 1997)
    4. Another TWIST on Baller-Gerold syndrome. (PubMed id 11754069)1, 2, 9 Seto M.L.... Cunningham M.L. (Am. J. Med. Genet. 2001)
    5. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. (PubMed id 8988166)1, 2, 9 Howard T.D....Jabs E.W. (Nat. Genet. 1997)
    6. Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome. (PubMed id 9215678)1, 2, 9 Krebs I.... Kunz J. (Hum. Mol. Genet. 1997)
    7. Genetic and environmental risk factors for sagittal craniosynostosis. (PubMed id 12218784)1, 4, 9 Zeiger J.S....VanderKolk C. (J Craniofac Surg 2002)
    8. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (PubMed id 20643727)1, 4 Wilkie A.O....Wall S.A. (Pediatrics 2010)
    9. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    10. Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. (PubMed id 19597909)1, 4 Hwang J.Y....Koh J.M. (Osteoporos Int 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7291 HGNC: 12428 AceView: TWIST1 Ensembl:ENSG00000122691 euGenes: HUgn7291
    ECgene: TWIST1 Kegg: 7291 H-InvDB: TWIST1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TWIST1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TWIST1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TWIST1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TWIST1 gene:
    Search GeneIP for patents involving TWIST1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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