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Gene: TWIST2 (twist family bHLH transcription factor 2) Homo sapiens
Symbol: TWIST2
Name: twist family bHLH transcription factor 2
Description: Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in negative regulation of osteoblast differentiation and positive regulation of cell migration. Localizes to cytoplasm; nucleolus; and nucleoplasm. Implicated in Barber-Say syndrome; ablepharon macrostomia syndrome; and focal dermal hypoplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AMS; BBRSAY; bHLHa39; class A basic helix-loop-helix protein 39; dermis-expressed protein 1; dermo-1 protein; DERMO1; FFDD3; MGC117334; SETLSS; twist basic helix-loop-helix transcription factor 2; twist homolog 2; twist-related bHLH protein Dermo1; twist-related protein 2
Mus musculus (house mouse) : Twist2 (twist basic helix-loop-helix transcription factor 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Twist2 (twist family bHLH transcription factor 2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Twist2 (twist family bHLH transcription factor 2)
Pan paniscus (bonobo/pygmy chimpanzee) : TWIST2 (twist family bHLH transcription factor 2)
Canis lupus familiaris (dog) : TWIST2 (twist family bHLH transcription factor 2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Twist2 (twist family bHLH transcription factor 2)
Sus scrofa (pig) : TWIST2 (twist family bHLH transcription factor 2)
Chlorocebus sabaeus (African green monkey) : TWIST2 (twist family bHLH transcription factor 2)
Heterocephalus glaber (naked mole-rat) : Twist2 (twist family bHLH transcription factor 2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl2238,848,032 - 238,910,534 (+)EnsemblGRCh38hg38GRCh38
GRCh382238,848,085 - 238,910,534 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372239,831,979 - 239,832,237 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh372239,756,673 - 239,795,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,496,916 - 239,497,176 (+)NCBINCBI36hg18NCBI36
Build 342239,568,232 - 239,568,491NCBI
Celera2233,470,842 - 233,508,585 (+)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2231,602,511 - 231,603,214 (+)NCBIHuRef
HuRef2231,547,793 - 231,586,033 (+)NCBIHuRef
CHM1_12239,763,040 - 239,838,275 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TWIST2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735468
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.