Gene

twist1b

ID
ZDB-GENE-050417-357
Name
twist family bHLH transcription factor 1b
Symbol
twist1b Nomenclature History
Previous Names
  • twist1a (2)
  • zgc:110208 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Exhibits cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including pharyngeal system development; regulation of bone mineralization; and sprouting angiogenesis. Predicted to localize to nuclear chromatin. Is expressed in several structures, including brain; cardiovascular system; cranial vault; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Orthologous to human TWIST1 (twist family bHLH transcription factor 1).
Genome Resources
Note
None
Expression
All Expression Data
22 figures from 14 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 4 from Yang et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With twist1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
craniosynostosis Alliance Craniosynostosis 1 123100
Saethre-Chotzen syndrome Alliance Robinow-Sorauf syndrome 180750
Saethre-Chotzen syndrome Alliance Saethre-Chotzen syndrome with or without eyelid anomalies 101400
Sweeney-Cox syndrome Alliance Sweeney-Cox syndrome 617746
Associated With twist1b 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:Q568M7 169
UniProtKB:F8W609 142
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations