NKX2-5
Sign in to saveAlso known as CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
protein-coding gene in the species Homo sapiens
In the Vinony graph
Within Vinony's link graph, NKX2-5 is referenced by 827 other articles, and connects out to PubMed, Ensembl genome database project and homeobox.
It is catalogued under topics including Genes on human chromosome 5 and Transcription factors.
Its subject is documented across 5 Wikipedia language editions.
Gene data
NKX2-5- Name
- NK2 homeobox 5
- Type
- protein-coding
- Position
- 173,231,882–173,235,312 (−)
- Aliases
- CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
- Ensembl
- ENSG00000183072
- RefSeq RNA
- NM_001166175.2, NM_001166176.2, NM_004387.4, XM_017009071.3, XM_054351717.1
- RefSeq protein
- NP_001159647.1, NP_001159648.1, NP_004378.1, XP_016864560.1, XP_054207692.1
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
NK2 homeobox 5
- Symbol
- NKX2-5
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:173,231,882-173,235,312
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 3230
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/1482
- chromosome
- human chromosome 5
- genomic end
- 173235311
- genomic start
- 172659112
- cytogenetic location
- 5q35.1
- genetic association
- tetralogy of Fallot
via Wikidata · CC0