Gene

twist2

ID
ZDB-GENE-980526-235
Name
twist2
Symbol
twist2 Nomenclature History
Previous Names
  • dermo1
  • zgc:101904 (1)
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in developmental process and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Is expressed in several structures, including brain; cardiovascular system; mesoderm; notochord; and tail bud. Human ortholog(s) of this gene implicated in Barber-Say syndrome; ablepharon macrostomia syndrome; and focal dermal hypoplasia. Orthologous to human TWIST2 (twist family bHLH transcription factor 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
28 figures from 14 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With twist2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
ablepharon macrostomia syndrome Alliance Ablepharon-macrostomia syndrome 200110
Barber-Say syndrome Alliance Barber-Say syndrome 209885
Focal facial dermal dysplasia 3, Setleis type 227260
Associated With twist2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Family IPR015789 Twist-related
Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
Domain Details Per Protein
Protein Length Helix-loop-helix DNA-binding domain superfamily Myc-type, basic helix-loop-helix (bHLH) domain Twist-related
UniProtKB:Q5XJI8 163
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations