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NKX2-5, NK2 homeobox 5

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NKX2-5, NK2 homeobox 5

  • 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 Synonyms (homeobox protein Nkx-2.5, NK2 transcription factor related, locus 5, NKX 2-5, cardiac-specific homeobox 1, homeobox protein CSX, homeobox protein NK-2 homolog E, homeobox protein NKX 2-5, tinman paralog, CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3,)
  • NCBI Gene ID: 1482
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>A0A0S2Z3K2
    UNIPROT ID#>>P52952
    UNIPROT ID#>>E5RH49
    UNIPROT ID#>>A0A0S2Z383
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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