HNF1B

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HNF1B
Protein TCF2 PDB 2da6.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHNF1B, FJHN, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1, HNF-1-beta, HNF1 homeobox B
External IDsMGI: 98505 HomoloGene: 396 GeneCards: HNF1B
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for HNF1B
Genomic location for HNF1B
Band17q12Start37,686,432 bp[1]
End37,745,247 bp[1]
RNA expression pattern
PBB GE TCF2 205313 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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 MbChr 11: 83.85 – 83.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene.

Function[edit]

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[edit]

References[edit]

  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 5612121. PMID 28794155.
  8. ^ "Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor".

Further reading[edit]

External links[edit]

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