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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for NKX2-5 (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 1482 Official gene symbol NKX2-5 Full name NK2 transcription factor related, locus 5 (Drosophila) Aliases ,CHNG5,CSX,CSX1,FLJ52202,FLJ97166,FLJ97195,FLJ97197,FLJ99536,NKX2.5,NKX2E,NKX4-1, Gene summary 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] Location Chromosome: 5   Locus: 5q34 Gene position 172662315 - 172659107  Map Viewer Gene orientation minus Gene size 3209 bp Gene sequence >NKX2-5:complement(17470380..17473588):Length=3209 GCTCCTGTCATCGAGGCCCCTGGCCCAATGGCAGGCTGAGTCCCCCTCCTCTGGCCTGGT CCCGCCTCTCCTGCCCCTTGTGCTCAGCGCTACCTGCTGCCCGGACACATCCAGAGCTGG CCGACGGGTGCGCGGGCGGGCGGCGGCACCATGCAGGGAAGCTGCCAGGGGCCGTGGGCA GCGCCGCTTTCTGCCGCCCACCTGGCGCTGTGAGACTGGCGCTGCCACCATGTTCCCCAG CCCTGCTCTCACGCCCACGCCCTTCTCAGTCAAAGACATCCTAAACCTGGAACAGCAGCA GCGCAGCCTGGCTGCCGCCGGAGAGCTCTCTGCCCGCCTGGAGGCGACCCTGGCGCCCTC CTCCTGCATGCTGGCCGCCTTCAAGCCAGAGGCCTACGCTGGGCCCGAGGCGGCTGCGCC GGGCCTCCCAGAGCTGCGCGCAGAGCTGGGCCGCGCGCCTTCACCGGCCAAGTGTGCGTC TGCCTTTCCCGCCGCCCCCGCCTTCTATCCACGTGCCTACAGCGACCCCGACCCAGCCAA GGACCCTAGAGCCGAAAAGAAAGGTGAGGAGGAAACACAGGCCCCCTTCTCCCCTCCTGG GTCGCTTTCGTCCCCAAGAAACTCAGGGCCAGGAGGAGGAGACACGCGCCCTTGGGCCGA GGGCTGGGCTGCGGCGGGGGGTTCAGAATGTAAGATGCCTGGTGTTGTCGCCAGGCTCCC GCGCCCCGCGTCCAATCGGAGGTTCAGAGGAAATGCCGGATTGAAAGGATCAGAAGCAAG AGACCAAAAAACGTTTCCCCCCGGCCTAACAAAGCCCCGGGCGGCTTCGGCTCTGCTCCT GGGTCTGGTAGGAAGTTGAGAAATCGGTTTATGGTAGACAGAACAGAGAGACAAGCAGAT AATCTCTGTTTTTAAATCTCCTTTGGATTTACGAATCTTTTTAAAGATCTGATGAGAACC GCTAAACAGAAATTGAAATGTTGCTCACCAGACAGCTTTTGCGTACAATCGGAGGAGGGT CCTGGACCTTCTTTCTGCAGCCCACCCACGACCCGGGTTTCTGGTGCCTTTCTTTCTTTG CGCCAGGAAAGTGGAGTCTGGGATCGAGGGCCTTGATTTTAAAATGGGATACTGCGGACC CTCAGGAATCTGACTTCACTTTATTTTTTCAGCACAACTTGCCGGCGCGGCCAGGGCGGA GAGGTTCCCTCGTGGAAAAGTTAGGAAATGCTGCGCTACCGCGGGCACAAGGGAGTGGAC GAGATGAGTGCGGGATCATCCCGCAGGCCATCCCAGGATCGGGGAGGGAGGCCGGCCCCG CTGCAGAAAGGGGCCTTCTGGGAGACCCCCCAGCCCAAGGCAGGAGCCCGGGCGATTCCC GGGAGGCCGCAGGCGCTGGGCGAAGCGCTGGGCGAAGGGCCGCTGCCAGCCGGGAGAGAA TTCATAGGTTTGTTGAGGAGCAGAGGCCTGGGAACAAATTCGGGCGGGCACGGCGGCTAG AACTGATCGCTACCAATTCGAGGAAGCCAGCAAGGCAGGTTCCGAGGCCGCCTGCCCACC CGCAGCTTCTTGGACACTGCGCAAACCCTGCTGCGGCCAGGCTGGAGCCTCCGATCACCA AACCAACACTCCCTGGCCTTCTGTTTCTTGATTCCTTAATTTTGAGATAAGACCGTCCCT AGCAGTGAGGCCTCGGCCTCTGTTCATTTAACTTCTCAAACCAAACTAGCCCTAATTCAG TTCACCCCAGAGCATCACCTGGTTTTATTTTTATTTTTTTATTTTTTTATTTATTTTTTT TTTTTTTGCAGCCTGAAATTTTAAGTCACCGTCTGTCTCCCTCACCAGGGTGTGAACTGC CCCGAGGGCAGAGACCTCCCGTTTTGTTCTCCAGCGCCTTGAGCCAGCCTGACTTTCTAC AAATGCTGAGTGAGACGTGTCGGTGGCTCCCAGTGCACTTGGCAGAGTGAGCCGCAGCCA GCTGGGCGCTCCAGGCAGGACACAGTGGCCTCCACGAGGATCCCTTACCATTACTGTGCG GCCGCGCTCCGTAGGTCAAGCCGCTCTTACCAAGCGTCTCTCTGCCTCTCTGTTCCCCCT CAGAGCTGTGCGCGCTGCAGAAGGCGGTGGAGCTGGAGAAGACAGAGGCGGACAACGCGG AGCGGCCCCGGGCGCGACGGCGGAGGAAGCCGCGCGTGCTCTTCTCGCAGGCGCAGGTCT ATGAGCTGGAGCGGCGCTTCAAGCAGCAGCGGTACCTGTCGGCCCCCGAACGCGACCAGC TGGCCAGCGTGCTGAAACTCACGTCCACGCAGGTCAAGATCTGGTTCCAGAACCGGCGCT ACAAGTGCAAGCGGCAGCGGCAGGACCAGACTCTGGAGCTGGTGGGGCTGCCCCCGCCGC CGCCGCCGCCTGCCCGCAGGATCGCGGTGCCAGTGCTGGTGCGCGATGGCAAGCCATGCC TAGGGGACTCGGCGCCCTACGCGCCTGCCTACGGCGTGGGCCTCAATCCCTACGGTTATA ACGCCTACCCCGCCTATCCGGGTTACGGCGGCGCGGCCTGCAGCCCTGGCTACAGCTGCA CTGCCGCTTACCCCGCCGGGCCTTCCCCAGCGCAGCCGGCCACTGCCGCCGCCAACAACA ACTTCGTGAACTTCGGCGTCGGGGACTTGAATGCGGTTCAGAGCCCCGGGATTCCGCAGA GCAACTCGGGAGTGTCCACGCTGCATGGTATCCGAGCCTGGTAGGGAAGGGACCCGCGTG GCGCGACCCTGACCGATCCCACCTCAACAGCTCCCTGACTCTCGGGGGGAGAAGGGGCTC CCAACATGACCCTGAGTCCCCTGGATTTTGCATTCACTCCTGCGGAGACCTAGGAACTTT TTCTGTCCCACGCGCGTTTGTTCTTGCGCACGGGAGAGTTTGTGGCGGCGATTATGCAGC GTGCAATGAGTGATCCTGCAGCCTGGTGTCTTAGCTGTCCCCCCAGGAGTGCCCTCCGAG AGTCCATGGGCACCCCCGGTTGGAACTGGGACTGAGCTCGGGCACGCAGGGCCTGAGATC TGGCCGCCCATTCCGCGAGCCAGGGCCGGGCGCCCGGGCCTTTGCTATCTCGCCGTCGCC CGCCCACGCACCCACCCGTATTTATGTTTTTACCTATTGCTGTAAGAAATGACGATCCCC TTCCCATTAAAGAGAGTGCGTTGACCCCG OMIM ID 600584