HNF1B

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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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.[1][2][3] 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.[4]

See also

References

  1. Barbacci E, Reber M, Ott MO, et al. (1999). "Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification". Development. 126: 4795–4805.
  2. Coffinier C, Thepot D, Babinet C, et al. (1999). "Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation". Development. 126: 4785–4794.
  3. 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 5612121. PMID 28794155.
  4. "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.




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