Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TWIST2 Gene

protein-coding   GIFtS: 51
GCID: GC02P239757

Twist Family BHLH Transcription Factor 2

(Previous names: twist homolog 2 (Drosophila), twist basic helix-loop-helix...)
  See 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)
About This Section

TryGeneCards Plus

Aliases
Twist Family BHLH Transcription Factor 21 2     SETLSS2 5
DERMO12 3 5     Twist Homolog 2 (Drosophila)1
Twist Basic Helix-Loop-Helix Transcription Factor 21 2     Twist Homolog 22
Class A Basic Helix-Loop-Helix Protein 392 3     Twist-Related BHLH Protein Dermo12
Dermis-Expressed Protein 12 3     Twist-Related Protein 22
bHLHa392 3     BHLHA393
FFDD32 5     Dermo-13

External Ids:    HGNC: 206701   Entrez Gene: 1175812   Ensembl: ENSG000002336087   OMIM: 6075565   UniProtKB: Q8WVJ93   

Export aliases for TWIST2 gene to outside databases

Previous GC identifers: GC02U900015 GC07M018899 GC07M018929 GC02P239496 GC02P231547


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for TWIST2 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, Twist. It is thought that during osteoblast development this protein may
inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. Two transcript variants encoding
the same protein have been found for this gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for TWIST2 Gene:
TWIST2 (twist family bHLH transcription factor 2) is a protein-coding gene. Diseases associated with TWIST2 include focal facial dermal dysplasia 3, setleis type, and focal facial dermal dysplasia. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is NHLH1.

UniProtKB/Swiss-Prot: TWST2_HUMAN, Q8WVJ9
Function: 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

Gene Wiki entry for TWIST2 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TWIST2 gene promoter:
         HOXA9B   HOXA9   HTF   SREBP-1c   Meis-1b   SREBP-1b   POU2F1   SREBP-1a   POU2F1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TWIST2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TWIST2


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

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

TWIST2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TWIST2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P239757:  view genomic region     (about GC identifiers)

Start:
239,756,673 bp from pter      End:
239,795,893 bp from pter
Size:
39,221 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: TWST2_HUMAN, Q8WVJ9 (See protein sequence)
Recommended Name: Twist-related protein 2  
Size: 160 amino acids; 18124 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12.
Also interacts with MEF2C (By similarity)
Secondary accessions: Q3SYL6

Explore the universe of human proteins at neXtProt for TWIST2: NX_Q8WVJ9

Explore proteomics data for TWIST2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TWIST2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258822.1  NP_476527.1  

    ENSEMBL proteins: 
     ENSP00000405176  

    TWIST2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TWIST2
    OriGene Protein Over-expression Lysate for TWIST2
    OriGene MassSpec for TWIST2
    OriGene Custom Protein Services for TWIST2
    GenScript Custom Purified and Recombinant Proteins Services for TWIST2
    Novus Biologicals TWIST2 Proteins
    Novus Biologicals TWIST2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TWIST2

    TWIST2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TWIST2
    R&D Systems Antibodies for TWIST2 (Twist-2)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TWIST2
    Novus Biologicals TWIST2 Antibodies
    Search for Antibodies for TWIST2 at Abcam
    Cloud-Clone Corp. Antibodies for TWIST2
    Search ThermoFisher Antibodies for TWIST2
    LSBio Antibodies in human, mouse, rat for TWIST2

    TWIST2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TWIST2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TWIST2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TWIST2
    Cloud-Clone Corp. CLIAs for TWIST2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q8WVJ9

    ProtoNet protein and cluster: Q8WVJ9

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

    UniProtKB/Swiss-Prot: TWST2_HUMAN, Q8WVJ9
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    TWIST2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TWST2_HUMAN, Q8WVJ9
    Function: 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

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001076RNA polymerase II transcription factor binding transcription factor activity IEA--
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI18598946
         
    TWIST2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TWIST2:
     Increased circadian period len 

         Selected MGI mutant phenotypes (inferred from 2 alleles(MGI details for Twist2) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    TWIST2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TWIST2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TWIST2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TWIST2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TWIST2

    miRNA
    Products:
        
    miRTarBase miRNAs that target TWIST2:
    hsa-mir-124-3p (MIRT002714)

    Block miRNA regulation of human, mouse, rat TWIST2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TWIST2:
    hsa-miR-1293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TWIST2
    Predesigned siRNA for gene silencing in human, mouse, rat TWIST2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TWIST2

    Clone
    Products:
         
    OriGene clones in human, mouse for TWIST2 (see all 6)
    OriGene ORF clones in mouse, rat for TWIST2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TWIST2 (NM_057179)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TWIST2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TWIST2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TWIST2
    Browse ESI BIO Cell Lines and PureStem Progenitors for TWIST2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    TWST2_HUMAN, Q8WVJ9: Nucleus. Cytoplasm. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult
    tissues
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11062344
    GO:0005667transcription factor complex IEA--
    GO:0005737cytoplasm IDA11062344

    TWIST2 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for TWIST2 About    
    See pathways by source

    SuperPathContained pathways About
    1Proteoglycans in cancer
    Proteoglycans in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for TWIST2):
        Proteoglycans in cancer


    TWIST2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TWIST2
    Interactions:

        Search GeneGlobe Interaction Network for TWIST2

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

    Selected Interacting proteins for TWIST2 (Q8WVJ91, 3 ENSP000004051764) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS2P150361, 3, ENSP000003533444EBI-1797313,EBI-1646991 I2D: score=1 STRING: ENSP00000353344
    MEF2CQ064133, ENSP000003962194I2D: score=2 STRING: ENSP00000396219
    SREBF1P369563, ENSP000003480694I2D: score=2 STRING: ENSP00000348069
    RUNX2Q139503, ENSP000003525144I2D: score=1 STRING: ENSP00000352514
    TWIST1ENSP000002422614STRING: ENSP00000242261
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001649osteoblast differentiation IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter ----
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0008285negative regulation of cell proliferation IEA--

    TWIST2 for ontologies           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TWIST2 (TWST2)



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TWIST2 gene (2 alternative transcripts): 
    NM_001271893.2  NM_057179.2  

    Unigene Cluster for TWIST2:

    Twist basic helix-loop-helix transcription factor 2
    Hs.422585  [show with all ESTs]
    Unigene Representative Sequence: NM_001271893
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000448943(uc010znx.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TWIST2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TWIST2:
    hsa-miR-1293
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TWIST2
    Predesigned siRNA for gene silencing in human, mouse, rat TWIST2
    Clone
    Products:
         
    OriGene clones in human, mouse for TWIST2 (see all 6)
    OriGene ORF clones in mouse, rat for TWIST2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TWIST2 (NM_057179)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TWIST2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TWIST2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TWIST2
    OriGene qSTAR qPCR primer pairs in human, mouse for TWIST2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TWIST2
      QuantiTect SYBR Green Assays in human, mouse, rat TWIST2
      QuantiFast Probe-based Assays in human, mouse, rat TWIST2

    Additional mRNA sequence: 

    BC017907.1 BC033168.1 BC103755.1 

    4 DOTS entries:

    DT.100684660  DT.413072  DT.100019724  DT.121624258 

    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)
    About This Section

    TryGeneCards Plus

    TWIST2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAAAAAAA
    TWIST2 Expression
    About this image


    TWIST2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 13 entries
             Dermal Mesenchyme Cells Ventral Subectodermal Mesenchyme
             Human Hair Dermal Papilla Cells (HHDPC)   
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Adipose (Muscoskeletal System)
             Stromal Vascular Preadipocyte Progenitor Cells Vascular Adipose
     
     Tendon & Ligament
             Human periodontal ligament Fibroblasts (HPLF)   
     
     Intestine
             Human Villous Mesenchymal Fibroblasts (HVMF)   
    TWIST2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TWIST2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.422585

    UniProtKB/Swiss-Prot: TWST2_HUMAN, Q8WVJ9
    Tissue specificity: 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

        Custom PCR Arrays for TWIST2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TWIST2
    OriGene qSTAR qPCR primer pairs in human, mouse for TWIST2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TWIST2
    QuantiTect SYBR Green Assays in human, mouse, rat TWIST2
    QuantiFast Probe-based Assays in human, mouse, rat TWIST2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for TWIST2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Twist21 , 5 twist homolog 2 (Drosophila)5
    twist basic helix-loop-helix transcription factor 21
    96.67(n)1
    100(a)1
      1 (46.24 cM)5
    133451  NM_007855.21  NP_031881.11 
     918014615 
    chicken
    (Gallus gallus)
    Aves TWIST21 twist homolog 2 (Drosophila) 80.83(n)
    96.25(a)
      395405  NM_204679.1  NP_990010.1 
    lizard
    (Anolis carolinensis)
    Reptilia TWIST26
    twist family bHLH transcription factor 2
    94(a)
    1 ↔ 1
    1(118628463-118628948)
    zebrafish
    (Danio rerio)
    Actinopterygii twist21 twist2 79.37(n)
    86.87(a)
      30395  NM_001005956.2  NP_001005956.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta twi6
    twist
    17(a)
    1 → many
    2R(18933631-18935849)


    ENSEMBL Gene Tree for TWIST2 (if available)
    TreeFam Gene Tree for TWIST2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for TWIST2 gene
    NHLH12  TWIST12  HAND22  TAL12  NHLH22  LYL12  TAL22  TCF152  
    SCXB2  HAND12  SCXA2  
    6 SIMAP similar genes for TWIST2 using alignment to 1 protein entry:     TWST2_HUMAN:
    TWIST1    TAL2    PTF1A    TCF15    SCXA    SCXB

    TWIST2 for paralogs           About GeneDecksing



    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TWIST2 (see all 854)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1512748871,2
    C--239758402(+) ACACCC/TTCCAA 1 -- int10--------
    rs1404765421,2
    --239758665(+) TATCTA/GTTTCT 1 -- int10--------
    rs361543231,2
    C--239758772(+) TATTTC/TGGTGT 1 -- int10--------
    rs1854884261,2
    --239759025(+) ACTTCA/CATTTA 1 -- int10--------
    rs1388721761,2
    --239759329(+) AATAAA/GTAAAT 1 -- int10--------
    rs361478211,2
    --239759534(+) AAAATG/TTTATC 1 -- int10--------
    rs1427924221,2
    --239759536(+) AATTTC/TATCCA 1 -- int10--------
    rs1817932621,2
    --239759553(+) ATTCTA/GGACAC 1 -- int10--------
    rs361288511,2
    C,F--239759558(+) GGACAC/TACCTT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1380703021,2
    --239759644(+) CAATAC/TGATTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for TWIST2 (239756673 - 239795893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TWIST2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721788CNV Deletion23290073
    esv2671116CNV Deletion23128226
    esv2330809CNV Deletion18987734
    nsv876071CNV Loss21882294

    Human Gene Mutation Database (HGMD): TWIST2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TWIST2
    DNA2.0 Custom Variant and Variant Library Synthesis for TWIST2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607556   
    OMIM disorders: 227260  
    UniProtKB/Swiss-Prot: TWST2_HUMAN, Q8WVJ9
  • 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20 diseases for TWIST2:    
    About MalaCards
    focal facial dermal dysplasia 3, setleis type    focal facial dermal dysplasia    focal facial dermal dysplasia 4    saethre-chotzen syndrome
    progeria    ectodermal dysplasia    adenoid cystic carcinoma    adenoiditis
    choroiditis    peritonitis    hypoxia    chronic lymphocytic leukemia
    lymphoblastic leukemia    cervicitis    squamous cell carcinoma    breast cancer
    multiple myeloma    leukemia    myeloma    malaria


    TWIST2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TWIST2
    Human Genome Epidemiology (HuGE) Navigator: TWIST2 (2 documents)

    Export disorders for TWIST2 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)
    About This Section

    TryGeneCards Plus

    PubMed articles for TWIST2 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with TWIST2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. (PubMed id 20691403)1, 2 Tukel T.... Desnick R.J. (Am. J. Hum. Genet. 2010)
    2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Human Dermo-1 has attributes similar to twist in early bone development. (PubMed id 11062344)1, 2 Lee M.S.... Glackin C.A. (Bone 2000)
    5. The locations of the H-twist and H-dermo-1 genes are distinct on the human genome. (PubMed id 9061034)1, 3 Perrin-Schmitt F....Danse J.M. (Biochim. Biophys. Acta 1997)
    6. Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis. (PubMed id 7589808)1, 3 Li L....Olson E.N. (Dev. Biol. 1995)
    7. Significance of heterogeneous Twist2 expression in human breast cancers. (PubMed id 23133563)1 Mao Y....Liu Z. (PLoS ONE 2012)
    8. Coexpression of hypoxia-inducible factor-2I+, TWIST2, and SIP1 may correlate with invasion and metastasis of salivary adenoid cystic carcinoma. (PubMed id 22103974)1 Zhou C....Liang X. (amp 2012)
    9. The basic helix loop helix transcription factor Twist1 is a novel regulator of ATF4 in osteoblasts. (PubMed id 21866569)1 Danciu T.E....Franceschi R.T. (J. Cell. Biochem. 2012)
    10. Correlation of TWIST2 up-regulation and epithelial-mesenchymal transition during tumorigenesis and progression of cervical carcinoma. (PubMed id 22018873)1 Li Y....Wang S. (Gynecol. Oncol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 117581 HGNC: 20670 Ensembl:ENSG00000233608 euGenes: HUgn117581 ECgene: TWIST2 Kegg: 117581
    H-InvDB: TWIST2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TWIST2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for TWIST2 gene:
    Search GeneIP for patents involving TWIST2

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of TWIST2
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Antibodies for TWIST2 (Twist-2)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TWIST2  
     OriGene qPCR primer pairs and template standards for TWIST2   OriGene Protein Over-expression Lysate for TWIST2  
     OriGene MassSpec something-or-other for TWIST2   OriGene clones in human, mouse for TWIST2  
     OriGene qSTAR qPCR primer pairs in human, mouse for TWIST2   OriGene Purified Protein for TWIST2  
     OriGene ORF clones in mouse, rat for TWIST2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TWIST2   OriGene Custom Protein Services for TWIST2  

     
     
     Block miRNA regulation of human, mouse, rat TWIST2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TWIST2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TWIST2 Predesigned siRNA for gene silencing in human, mouse, rat TWIST2
     QuantiFast Probe-based Assays in human, mouse, rat TWIST2 QuantiTect SYBR Green Assays in human, mouse, rat TWIST2
     Custom PCR Arrays for TWIST2 Search Chromatin IP Primers for TWIST2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TWIST2  Search GeneGlobe Interaction Network for TWIST2
     Regulatory tfbs in TWIST2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for TWIST2 GenScript cDNA clones with any tag delivered in your preferred vector for TWIST2
     GenScript Custom Assay Services for TWIST2 GenScript Custom overexpressing Cell Line Services for TWIST2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for TWIST2 (TWST2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TWIST2 antibodies
     TWIST2 proteins
     TWIST2 lysates
     Search for Antibodies for TWIST2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for TWIST2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TWIST2
     Antibodies for TWIST2
     ELISAs for TWIST2
     CLIAs for TWIST2



     Browse ESI BIO Cell Lines and PureStem Progenitors for TWIST2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for TWIST2
     Browse SwitchGear Promoter luciferase reporter plasmids for TWIST2
     Search ThermoFisher Antibodies for TWIST2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TWIST2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TWIST2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TWIST2
     LSBio Antibodies in human, mouse, rat for TWIST2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TWIST2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4