QuickView for thyroid transcription factor 1 (gene)

Gene Symbol:

NKX2-1 Homo sapiens

Full name:

NK2 homeobox 1

Synonyms:

BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1, homeobox protein Nkx-2.1, NK-2 homolog A, homeobox protein NK-2 homolog A, thyroid nuclear factor 1, thyroid transcription factor 1, thyroid-specific enhancer-binding protein

Genomic Location:

Chr 14: 36055353-36059167

Description:

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with be...

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This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NKX25_01 ,  SP1_01 ,  RTAAACA_FREAC2_01 ,  OCT1_05 ,  DR3_Q4 ,  FOXJ2_02 ,  RYTTCCTG_ETS2_B ,  AREB6_02 ,  HOXA4_Q2 ,  SRF_Q6 ,  SMAD3_Q6 ,  GCANCTGNY_MYOD_Q6 ,  ATF4_Q2 ,  AP2GAMMA_01 ,  RNCTGNYNRNCTGNY_UNKNOWN ,  IRF1_Q6 ,  TTF1_Q6 ,  MAF_Q6 ,  RFX1_01 ,  MYAATNNNNNNNGGC_UNKNOWN ,  AML1_01 ,  OSF2_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TFIII_Q6 ,  PAX4_02 ,  FOXO3_01 ,  LFA1_Q6 ,  CEBP_01 ,  RFX1_02 ,  CAGGTG_E12_Q6 ,  AP4_01 ,  EVI1_02 ,  NKX62_Q2 ,  GGGCGGR_SP1_Q6 ,  AREB6_01 ,  TGCTGAY_UNKNOWN ,  NKX25_02 ,  CTTTAAR_UNKNOWN ,  PAX6_01 ,  AP2_Q3 ,  HSF2_01 ,  AML1_Q6 ,  MTF1_Q4 ,  CHX10_01 ,  TAATTA_CHX10_01 ,  TTGTTT_FOXO4_01 ,  CHOP_01 ,  GATA4_Q3 ,  MSX1_01 ,  TEF_Q6 ,  IK1_01 ,  CTTTGT_LEF1_Q2 ,  LXR_Q3 ,  CACBINDINGPROTEIN_Q6 ,  CDC5_01 ,  AACTTT_UNKNOWN ,  MZF1_02 ,  PAX4_03 ,  PPARA_02 ,  CCAWWNAAGG_SRF_Q4 ,  PAX4_01 ,  SRF_C ,  SP1_Q2_01 ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

14q13.3

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