NK2 Homeobox 5

Alternative Names

  • NKX2-5
  • NK2, Drosophila, Homolog of, E
  • NKX2E
  • Cardiac-Specific Homeobox 1
  • CSX1
  • CSX
  • NKX2.5, Mouse, Homolog of
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OMIM Number

600584

NCBI Gene ID

1482

Uniprot ID

P52952

Length

3,209 bases

No. of Exons

3

No. of isoforms

3

Protein Name

Homeobox Protein NKX-2.5

Molecular Mass

34918 Da

Amino Acid Count

324

Genomic Location

chr5:173,232,104-173,235,312

Gene Map Locus
5q35.1

Description

The NKX2-5 gene encodes a transcription factor that is responsible for regulating the differentiation and proliferation of cardiac muscle cells. It is also believed to play a role in the development of the thyroid gland and spleen. 

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004387.4:c.461A>GLebanonchr5:173233083PathogenicPathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects NG_013340.1:g.7230A>G; NM_004387.4:c.461A>G; NP_004378.1:p.Glu154Gly587782928156158
NM_004387.4:c.618delLebanonNC_000005.10:g.173232929delPathogenicLikely PathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects NG_013340.1:g.7387del; NM_004387.4:c.618del; NP_004378.1:p.Leu207fs587782929156159
NM_004387.4:c.721_728delLebanonchr5:173232816-173232823PathogenicPathogenicAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects NG_013340.1:g.7490_7497del; NM_004387.4:c.721_728del; NP_004378.1:p.Tyr241fs587782930156160
NM_004387.4:c.73C>TLebanonNC_000005.10:g.173235011G>ABenign, Likely Benign, Uncertain SignificanceLikely BenignAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects NG_013340.1:g.5302C>T; NM_004387.4:c.73C>T; NP_004378.1:p.Arg25Cys289366709008
NM_004387.4:c.809G>ALebanonNC_000005.10:g.173232735C>TLikely Benign, Uncertain SignificanceLikely BenignAtrial Septal Defect 7 with or without Atrioventricular Conduction Defects NG_013340.1:g.7578G>A; NM_004387.4:c.809G>A; NP_004378.1:p.Cys270Tyr587782931156161
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