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
Enables cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including pharyngeal system development; regulation of bone mineralization; and sprouting angiogenesis. Predicted to be located in nucleus. 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
Comparative Information
Expression
All Expression Data
24 figures from 16 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure 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:F8W609 142
UniProtKB:Q568M7 169
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