Gene

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
Description
Predicted to have DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in hypothalamus development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in choreatic disease and thyroid gland papillary carcinoma. Is expressed in brain; head; swim bladder; and thyroid follicle. Orthologous to human NKX2-1 (NK2 homeobox 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
28 figures from 22 publications
Cross-Species Comparison
High Throughput Data
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
thyroid gland papillary 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 Homeobox domain
Domain IPR020479 Homeobox domain, metazoa
Homologous_superfamily IPR009057 Homeobox-like domain superfamily
Domain Details Per Protein
Protein Length Homeobox, conserved site Homeobox domain Homeobox domain, metazoa Homeobox-like domain superfamily
UniProtKB:Q98TX4 346
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations