nkx2.1

ID

ZDB-GENE-010404-1

Name

NK2 homeobox 1

Symbol

nkx2.1 Nomenclature History

Previous Names

nk2.1b
nkx2.1b
nkx2.4b (1)
titf1b (1)
wu:fc31g10

Type

protein_coding_gene

Location

Chr: 17 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 hypothalamus development. Predicted to be active in nucleus. Is expressed in brain; head; presumptive diencephalon; swim bladder; and thyroid follicle. Human ortholog(s) of this gene implicated in choreatic disease and papillary thyroid carcinoma. Orthologous to human NKX2-1 (NK2 homeobox 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

37 figures from 28 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: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With nkx2.1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
choreatic disease	Alliance	Chorea, hereditary benign	118700
papillary thyroid carcinoma	Alliance	{Thyroid cancer, nonmedullary, 1}	188550
		Choreoathetosis, hypothyroidism, and neonatal respiratory distress	610978

Associated With nkx2.1 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