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NM_000458
NM_001165923
NM_001304286
NM_006481

NM_001291268
NM_001291269
NM_009330

RefSeq (protein)

NP_000449
NP_001159395
NP_001291215
NP_001159395.1

NP_001278197
NP_001278198
NP_033356

Location (UCSC) Chr 17: 37.69 – 37.75 Mb Chr 11: 83.85 – 83.91 Mb PubMed search [3] [4] Wikidata
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HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene.

Function

TCF2 encodes transcription factor 2, a protein of the homeobox-containing basic helix-turn-helix family. The TCF2 protein is believed to form heterodimers with another member of this transcription factor family, TCF1; depending on the TCF2 isoform, the result may be to activate or inhibit transcription of target genes.Deficiency of TCF2 cause abnormal maternal-Zygote transition and early embryogenesis failure.[5][6][7] Mutation of TCF2 that disrupts normal function has been identified as the cause of MODY5 (Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated.[8]

See also

References

  1. ^ a b c ENSG00000275410 GRCh38: Ensembl release 89: ENSG00000276194, ENSG00000275410 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020679 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Barbacci E, Reber M, Ott MO, et al. (1999). "Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification". Development. 126: 4795–4805. 
  6. ^ Coffinier C, Thepot D, Babinet C, et al. (1999). "Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation". Development. 126: 4785–4794. 
  7. ^ Zhang J, Qu P, Zhou C (Sep 2017). "MicroRNA-125b is a key epigenetic regulatory factor that promotes nuclear transfer reprogramming". The Journal of Biological Chemistry. 292 (38): 15916–15926. doi:10.1074/jbc.M117.796771. PMC 5612121Freely accessible. PMID 28794155. 
  8. ^ "Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor". 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.