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HNF1B

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Identifiers
SymbolsHNF1B ; FJHN; HNF-1B; HNF1beta; HNF2; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; VHNF1
External IDsOMIM189907 MGI98505 HomoloGene396 GeneCards: HNF1B Gene
RNA expression pattern
File:PBB GE TCF2 205313 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez692821410
EnsemblENSG00000108753ENSMUSG00000020679
UniProtP35680P27889
RefSeq (mRNA)NM_000458NM_001291268
RefSeq (protein)NP_000449NP_001278197
Location (UCSC)Chr 17:
36.05 – 36.11 Mb
Chr 11:
83.85 – 83.91 Mb
PubMed search[1][2]

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 liver-specific factor of the homeobox-containing basic helix-turn-helix family. The TCF2 protein is believed to form heterodimers with another liver-specific member of this transcription factor family, TCF1; depending on the TCF2 isoform, the result may be to activate or inhibit transcription of target genes. 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.[1]

See also

References

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.Template:Gene-17-stub