QuickView for tinman (gene)

Gene Symbol:

NKX2-5 Homo sapiens

Full name:

NK2 homeobox 5

Synonyms:

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

Genomic Location:

Chr 5: 172591744-172594868

Description:

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 hy...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

E2A_Q2 ,  CAGGTA_AREB6_01 ,  CAGGTG_E12_Q6 ,  TATA_C ,  GGGCGGR_SP1_Q6 ,  CTTTAAR_UNKNOWN ,  GCCNNNWTAAR_UNKNOWN

Cytogenetic Map:

5q35.1

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