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

    Gene ID: 117581, updated on 23-Nov-2023

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TWIST2 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238848085..238910534)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (239335184..239402179)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001271893.4NP_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:51132
      bHLH_TS_TWIST2; basic helix-loop-helix (bHLH) domain found in twist-related protein 2 (TWIST2) and similar proteins
    2. NM_057179.3NP_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:51132
      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_2023_10

    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