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

HNF1B
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, T2D, ADTKD3, RCAD
External IDsOMIM: 189907; MGI: 98505; HomoloGene: 396; GeneCards: HNF1B; OMA:HNF1B - orthologs
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: 83.74 – 83.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure.[5][6] Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 (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.[7]

See also

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References

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  1. ^ a b c ENSG00000275410 GRCh38: Ensembl release 89: ENSG00000276194, ENSG00000275410Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020679Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Barbacci E, Reber M, Ott MO, et al. (1999). "Variant hepatocyte nuclear factor 1 is required for visceral endoderm specification". Development. 126 (21): 4795–4805. doi:10.1242/dev.126.21.4795. PMID 10518496.
  6. ^ Coffinier C, Thepot D, Babinet C, et al. (1999). "Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation". Development. 126 (21): 4785–4794. doi:10.1242/dev.126.21.4785. PMID 10518495.
  7. ^ "HNF1B HNF1 homeobox B [ Homo sapiens (human) ]".

Further reading

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