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. Human ortholog(s) of this gene implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Is expressed in several structures, including brain; cardiovascular system; cranial vault; mesoderm; and pharyngeal arch. Orthologous to human TWIST1 (twist family bHLH transcription factor 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

26 figures from 18 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 1	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
Domain	IPR047093	Twist-related protein 1, basic helix-loop-helix domain
Family	IPR050283	E-box Binding Transcriptional Regulators
Homologous_superfamily	IPR036638	Helix-loop-helix DNA-binding domain superfamily