NKX2-5

Also known as CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3

protein-coding gene in the species Homo sapiens

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

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II vasculogenesis heart looping heart morphogenesis outflow tract septum morphogenesis cardiac conduction system development cardiac conduction system development

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific

Cellular component

chromatin nucleus nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex transcription regulator complex

Pathways

Developmental Biology Developmental Biology YAP1- and WWTR1 (TAZ)-stimulated gene expression Generic Transcription Pathway Muscle contraction Cardiac conduction Physiological factors RNA Polymerase II Transcription Gene expression (Transcription)Cardiogenesis

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

View on Ensembl →

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

Sources (6)

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NKX2-5

Gene data

Gene Ontology

Pathways

Gene · Ensembl

Wikidata facts

Available in 5 languages

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What links here827 pages