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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TWIST2 Gene

protein-coding   GIFtS: 53
GCID: GC02P239757

Twist Basic Helix-Loop-Helix Transcription Factor 2

(Previous name: twist homolog 2 (Drosophila))
  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

Aliases
Twist Basic Helix-Loop-Helix Transcription Factor 21 2     SETLSS2
DERMO12 3 5     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
Twist Homolog 2 (Drosophila)1     Dermo-13
FFDD32     

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

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 basic helix-loop-helix transcription factor 2) is a protein-coding gene. Diseases associated with TWIST2 include focal facial dermal dysplasia, and saethre-chotzen syndrome. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005120.16  NT_022173.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TWIST2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Nucleus. Cytoplasm. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult
tissues
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WVJ9

  • TWIST2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TWIST2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258822.1  NP_476527.1  

    ENSEMBL proteins: 
     ENSP00000405176  

    Human Recombinant Protein Products for TWIST2: 
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    Novus Biologicals TWIST2 Proteins
    Novus Biologicals TWIST2 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TWIST2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    TWIST2 for ontologies           About GeneDecksing



    TWIST2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TWIST2
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    Assay Products for TWIST2: 
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    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
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    2 InterPro protein domains:
     IPR015789 Twist_related
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 

         15/21 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  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 - Custom generated mouse model solutions for TWIST2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target TWIST2:
    hsa-mir-124 (MIRT002714)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TWIST2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate TWIST2:
    hsa-miR-1293
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TWIST2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TWIST2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for TWIST2 (Q8WVJ91, 3 ENSP000004051764) via UniProtKB, MINT, STRING, and/or I2D
    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
    RUNX2Q139503I2D: score=1 
    TWIST1ENSP000002422614STRING: ENSP00000242261
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TWIST2 (TWST2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TWIST2:
    hsa-miR-1293
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    Inhib. RNA
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      QIAGEN 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TWIST2 expression in normal human tissues (normalized intensities)      TWIST2 embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 14 entries
             Dermal Mesenchyme Cells Ventral Subectodermal Mesenchyme
             Human Dermal Fibroblasts-adult (HDF-a)   
     
     Fibroblast
             Human Conjunctival Fibroblasts (HConF)   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mandibular Process
             Mesenchymal Precursor Cells (STRO-3 selected)
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Distal Mesodermal Progenitor Cells Lung Mesoderm
             Human Tracheal Smooth Muscle Cells (HTSMC)   
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Stromal Vascular Preadipocyte Progenitor Cells Vascular Adipose
             Human Preadipocyte-subcutaneous (HPA-s)   

    See TWIST2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TWIST2

    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

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    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

    This gene was present in the common ancestor of animals.

    Orthologs for TWIST2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Twist21 , 5 twist homolog 2 (Drosophila)1, 5 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
    Uncharacterized protein
    94(a)
    1 ↔ 1
    1(118628463-118628948)
    zebrafish
    (Danio rerio)
    Actinopterygii twist21 twist2 79.37(n)
    86.87(a)
      30395  NM_001005956.1  NP_001005956.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta twi6
    twist
    14(a)
    1 → many
    2R(18933631-18935849)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-86
    Twist-related protein
    27(a)
    1 → many
    X(8116636-8120106)


    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
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/854 SNPs in TWIST2 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607556    OMIM disorders: --

    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

  • 13 diseases for TWIST2:    About MalaCards
    focal facial dermal dysplasia    saethre-chotzen syndrome    progeria    ectodermal dysplasia
    choroiditis    peritonitis    adenoiditis    chronic lymphocytic leukemia
    hypoxia    cervicitis    leukemia    squamous cell carcinoma
    breast cancer


    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

    PubMed articles for TWIST2 gene, integrated from 9 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. (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. (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. (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. (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. (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. (1995)
    7. Significance of heterogeneous Twist2 expression in hum an breast cancers. (PubMed id 23133563)1 Mao Y....Liu Z. (2012)
    8. Coexpression of hypoxia-inducible factor-2a, TWIST2, a nd SIP1 may correlate with invasion and metastasis of salivary adenoid cystic ca rcinoma. (PubMed id 22103974)1 Zhou C....Liang X. (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. (2012)
    10. Correlation of TWIST2 up-regulation and epithelial-me senchymal transition during tumorigenesis and progression of cervical carcinoma . (PubMed id 22018873)1 Li Y....Wang S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    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
    Entrez Gene: 117581 HGNC: 20670 Ensembl:ENSG00000233608 euGenes: HUgn117581 ECgene: TWIST2 Kegg: 117581
    H-InvDB: TWIST2

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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