Gene

tbx4

ID

ZDB-GENE-991124-5

Name

T-box transcription factor 4

Symbol

tbx4 Nomenclature History

Previous Names

zTbx4
pelvic finless (1)
pfl (1)
unm_zf358
zf-tbx4

Type

protein_coding_gene

Location

Chr: 15 Mapping Details/Browsers

Description

Predicted to have DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II activating transcription factor binding activity; and RNA polymerase II regulatory region sequence-specific DNA binding activity. Involved in embryonic hindlimb morphogenesis and embryonic pelvic fin morphogenesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in ischiocoxopodopatellar syndrome. Is expressed in diencephalon; mesoderm pelvic fin bud; pelvic fin bud; presumptive neural retina; and retina. Orthologous to human TBX4 (T-box transcription factor 4).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

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: 11 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With tbx4 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
ischiocoxopodopatellar syndrome	Alliance	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	147891
		Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome	601360

Associated With tbx4 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018186	Transcription factor, T-box, conserved site
Domain	IPR046360	T-box transcription factor, DNA-binding domain
Family	IPR001699	T-box transcription factor
Homologous_superfamily	IPR008967	p53-like transcription factor, DNA-binding domain superfamily
Homologous_superfamily	IPR036960	T-box superfamily