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

Expression Atlas

UCSC scRNA-seq

Thisse Expression Data

MGC:101904 (19 images)

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