nkx2.5

ID

ZDB-GENE-980526-321

Name

NK2 homeobox 5

Symbol

nkx2.5 Nomenclature History

Previous Names

nk2.5
nkx2-5
sb:eu581
tinman homeobox homolog
zgc:111912

Type

protein_coding_gene

Location

Chr: 14 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including circulatory system development; embryonic viscerocranium morphogenesis; and regulation of cardiac chamber formation. Predicted to be active in nucleus. Is expressed in several structures, including cardiac muscle myoblast; cardiovascular system; digestive system; mesoderm; and pharyngeal arch. Human ortholog(s) of this gene implicated in aortic valve disease 2; atrioventricular block; congenital heart disease (multiple); and congenital nongoitrous hypothyroidism 5. Orthologous to human NKX2-5 (NK2 homeobox 5).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

258 figures from 187 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:111912 (16 images)
eu581 (12 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 34 figures from 12 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nkx2.5 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
atrial heart septal defect 7	Alliance	Atrial septal defect 7, with or without AV conduction defects	108900
congenital nongoitrous hypothyroidism 5	Alliance	Hypothyroidism, congenital nongoitrous, 5	225250
double outlet right ventricle	Alliance	Conotruncal heart malformations, variable	217095
hypoplastic left heart syndrome	Alliance	Hypoplastic left heart syndrome 2	614435
tetralogy of Fallot	Alliance	Tetralogy of Fallot	187500
ventricular septal defect	Alliance	Ventricular septal defect 3	614432

Associated With nkx2.5 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeodomain
Domain	IPR020479	Homeodomain, metazoa
Family	IPR050394	Homeobox NK-like transcription regulators
Homologous_superfamily	IPR009057	Homedomain-like superfamily