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    TWIST2 twist family bHLH transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 117581, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TWIST2provided by HGNC
    Official Full Name
    twist family bHLH transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:20670
    See related
    Ensembl:ENSG00000233608 MIM:607556; AllianceGenome:HGNC:20670
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMS; FFDD3; BBRSAY; DERMO1; SETLSS; bHLHa39
    Summary
    The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in fat (RPKM 11.9), endometrium (RPKM 7.9) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TWIST2 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238848085..238910534)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (239335184..239402179)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239756726..239832230)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905451 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:239710917-239712116 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57404 Neighboring gene uncharacterized LOC100287387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239754662-239755172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239755173-239755683 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239757217-239757726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239757727-239758237 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57450 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57458 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:239764522-239764712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239765771-239766270 Neighboring gene Sharpr-MPRA regulatory region 8511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239773413-239774030 Neighboring gene NANOG hESC enhancer GRCh37_chr2:239781475-239781979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239798834-239799355 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57501 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239864003-239864503 Neighboring gene long intergenic non-protein coding RNA 1940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239906676-239907658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239907659-239908639 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239936997-239937826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239957575-239958194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239989039-239989540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239989541-239990040 Neighboring gene histone deacetylase 4 Neighboring gene microRNA 4440

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Epigenetic inactivation of TWIST2 in acute lymphoblastic leukemia modulates proliferation, cell survival and chemosensitivity. Thathia SH, et al. Haematologica, 2012 Mar. PMID 22058208, Free PMC Article
    2. Biological function and molecular mechanism of Twist2. Zhao CX, et al. Yi Chuan, 2015 Jan. PMID 25608809
    3. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Weaver DD, et al. Am J Med Genet A, 2015 May. PMID 25728400
    4. The indicative function of Twist2 and E-cadherin in HPV oncogene-induced epithelial-mesenchymal transition of cervical cancer cells. Liu Y, et al. Oncol Rep, 2015 Feb. PMID 25420506
    5. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. Rosti RO, et al. Clin Genet, 2015 Nov. PMID 25410422, Free PMC Article

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Twist2-expressing cells reside in human skeletal muscle and are responsive to aging and resistance exercise training.
      Title: Twist2-expressing cells reside in human skeletal muscle and are responsive to aging and resistance exercise training.
    2. Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the Association between High-Density Lipoprotein Cholesterol and Blood Lead (Pb) Level.
      Title: Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the Association between High-Density Lipoprotein Cholesterol and Blood Lead (Pb) Level.
    3. MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH transcription factor 2 (TWIST2) axis.
      Title: MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH transcription factor 2 (TWIST2) axis.
    4. TWIST2 and the PPAR signaling pathway are important in the progression of nonalcoholic steatohepatitis.
      Title: TWIST2 and the PPAR signaling pathway are important in the progression of nonalcoholic steatohepatitis.
    5. Inhibition of p53/p21 by TWIST alleviates TNF-alpha induced nucleus pulposus cell senescence in vitro.
      Title: Inhibition of p53/p21 by TWIST alleviates TNF-α induced nucleus pulposus cell senescence in vitro.
    6. LINC01235-TWIST2 feedback loop facilitates epithelial-mesenchymal transition in gastric cancer by inhibiting THBS2.
      Title: LINC01235-TWIST2 feedback loop facilitates epithelial-mesenchymal transition in gastric cancer by inhibiting THBS2.
    7. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
      Title: Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.
    8. Twist2 is NFkB-responsive when p120-catenin is inactivated and EGFR is overexpressed in esophageal keratinocytes.
      Title: Twist2 is NFkB-responsive when p120-catenin is inactivated and EGFR is overexpressed in esophageal keratinocytes.
    9. Periostin induces epithelialtomesenchymal transition via the integrin alpha5beta1/TWIST2 axis in cholangiocarcinoma.
      Title: Periostin induces epithelial‑to‑mesenchymal transition via the integrin α5β1/TWIST‑2 axis in cholangiocarcinoma.
    10. CASC9 enhances cervical cancer progression by promoting metastasis through the meditation of miR-215/TWIST2 signaling associated with TGF-beta expression
      Title: Long non-coding RNA CASC9 enhances breast cancer progression by promoting metastasis through the meditation of miR-215/TWIST2 signaling associated with TGF-β expression.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ablepharon macrostomia syndrome
    MedGen: C1860224 OMIM: 200110 GeneReviews: Not available
    		Compare labs
    Barber-Say syndrome
    MedGen: C1319466 OMIM: 209885 GeneReviews: Not available
    		Compare labs
    Focal facial dermal dysplasia type III
    MedGen: C1744559 OMIM: 227260 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117334

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to insulin IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    twist-related protein 2
    Names
    class A basic helix-loop-helix protein 39
    dermis-expressed protein 1
    twist basic helix-loop-helix transcription factor 2
    twist homolog 2
    twist-related bHLH protein Dermo1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032754.3 RefSeqGene

      Range
      5002..67063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001271893.4 → NP_001258822.1  twist-related protein 2

      See identical proteins and their annotated locations for NP_001258822.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC142117, BC017907
      Consensus CDS
      CCDS46558.1
      UniProtKB/Swiss-Prot
      Q3SYL6, Q8WVJ9
      Related
      ENSP00000482581.1, ENST00000612363.2
      Conserved Domains (1) summary
      cd19700
      Location:51 → 132
      bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins

    2. NM_057179.3 → NP_476527.1  twist-related protein 2

      See identical proteins and their annotated locations for NP_476527.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC149644, BC033168, BU615717
      Consensus CDS
      CCDS46558.1
      UniProtKB/Swiss-Prot
      Q3SYL6, Q8WVJ9
      Related
      ENSP00000405176.2, ENST00000448943.2
      Conserved Domains (1) summary
      cd19700
      Location:51 → 132
      bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      238848085..238910534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007069137.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021159987.1 Reference GRCh38.p14 PATCHES

      Range
      71795..138464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485772.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      239335184..239402179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486261.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WVJ9.1 GenPept UniProtKB/Swiss-Prot:Q8WVJ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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