QiagenGeneGlobe
Custom Products Analyze Knowledge Services
Unlock Deeper Insights with GeneGlobe Tutorials
Unlock Deeper Insights with GeneGlobe Tutorials
Explore intuitive guides and resources designed to help you get the most out of GeneGlobe. Whether you're designing assays, browsing curated panels, or diving into analysis tools—find practical help to accelerate your research journey.

TWIST2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
TWIST2
Official Name
twist family bHLH transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:20670]
Ensembl ID
ENSG00000233608
Bio databases IDs NCBI: 117581 Ensembl: ENSG00000233608
Aliases twist family bHLH transcription factor 2
Synonyms AMS, BBRSAY, bHLHa39, DERMO1, FFDD3, SETLSS, twist basic helix-loop-helix transcription factor 2, twist family bHLH transcription factor 2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TWIST2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • basic Helix Loop Helix (bHLH) domain superfamily
  • helix loop helix domain
  • chromatin binding
  • transcription factor binding
  • protein domain specific binding
  • helix-loop-helix domain
  • protein binding
  • Helix-loop-helix DNA-binding domain
  • transcription factor activity

Pathways

Biological processes and signaling networks where the TWIST2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • insulin resistance
  • invasive breast cancer
  • breast cancer
  • epithelial cancer
  • obesity
  • liver cancer
  • breast carcinoma
  • Setleis syndrome
  • cachexia
regulated by
regulates
role in cell
  • expression in
  • migration
  • differentiation
  • apoptosis
  • proliferation
  • activation in
  • cell cycle progression
  • quantity
  • accumulation in
  • colony formation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Cytoplasm
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TWIST2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to insulin stimulus
  • negative regulation of transcription, DNA-dependent
  • negative regulation of apoptotic process
  • cell differentiation
  • response to organic cyclic compound
  • developmental process
  • negative regulation of osteoblast differentiation
  • regulation of transcription from RNA polymerase II promoter
  • positive regulation of cell migration

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • cytoplasm
  • nucleolus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • RNA polymerase II regulatory region sequence-specific DNA binding
  • protein dimerization activity
  • sequence-specific DNA binding RNA polymerase II transcription factor activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.