Gene

TWIST2

Species
Homo sapiens
Symbol
TWIST2
Name
twist family bHLH transcription factor 2
Synonyms
  • AMS
  • BBRSAY
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in negative regulation of osteoblast differentiation and positive regulation of cell migration. Located in cytoplasm; nucleolus; and nucleoplasm. Implicated in Barber-Say syndrome and ablepharon macrostomia syndrome.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23349
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
238.85M238.86M238.87M238.88M238.89M238.90M238.91M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions