twist family bHLH transcription factor 2

Summary
Gene Symbol
  • TWIST2
Organism
Homo sapiens (human)
NCBI Gene
117581
PubChem
117581
Alliance of Genome Resources
Annotation
Keyword
  • Cytoplasm
  • DNA-binding
  • Developmental protein
  • Differentiation
  • Disease variant
  • Ectodermal dysplasia
  • Nucleus
  • Reference proteome
  • Repressor
  • Transcription regulation
Proteins
Displaying 1 entry
UniProt Protein Name
Q8WVJ9
  • Class A basic helix-loop-helix protein 39
  • Dermis-expressed protein 1
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
twist
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0060549 Barber-Say syndrome
DOID:0060550 ablepharon macrostomia syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025