HNF1B

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HNF1 homeobox B
PDB rendering based on 2da6.
Available structures: 2da6
Identifiers
Symbol(s) HNF1B; FJHN; TCF2; HNF1beta; HNF2; LFB3; MODY5; VHNF1
External IDs OMIM: 189907 MGI: 98505 HomoloGene: 396
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 6928 21410
Ensembl ENSG00000108753 ENSMUSG00000020679
Uniprot P35680 Q2M4H2
Refseq NM_000458 (mRNA)
NP_000449 (protein)		 XM_001002217 (mRNA)
XP_001002217 (protein)
Location Chr 17: 33.12 - 33.18 Mb Chr 11: 83.67 - 83.72 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.

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]

Contents

[edit] See also

[edit] References

  1. ^ Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor.

[edit] Further reading

  • Montoli A, Colussi G, Massa O, et al. (2002). "Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.". Am. J. Kidney Dis. 40 (2): 397–402. PMID 12148114. 
  • Bach I, Mattei MG, Cereghini S, Yaniv M (1991). "Two members of an HNF1 homeoprotein family are expressed in human liver.". Nucleic Acids Res. 19 (13): 3553–9. PMID 1677179. 
  • Mendel DB, Hansen LP, Graves MK, et al. (1991). "HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro.". Genes Dev. 5 (6): 1042–56. PMID 2044952. 
  • Abbott C, Piaggio G, Ammendola R, et al. (1991). "Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction.". Genomics 8 (1): 165–7. PMID 2081590. 
  • Bach I, Yaniv M (1993). "More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing.". EMBO J. 12 (11): 4229–42. PMID 7900999. 
  • Horikawa Y, Iwasaki N, Hara M, et al. (1997). "Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.". Nat. Genet. 17 (4): 384–5. doi:10.1038/ng1297-384. PMID 9398836. 
  • Soubt MK, Marksitzer R, Menoud PA, Nagamine Y (1998). "Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells.". Mol. Cell. Biol. 18 (8): 4698–706. PMID 9671480. 
  • Lindner TH, Njolstad PR, Horikawa Y, et al. (1999). "A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.". Hum. Mol. Genet. 8 (11): 2001–8. PMID 10484768. 
  • Bingham C, Ellard S, Allen L, et al. (2000). "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.". Kidney Int. 57 (3): 898–907. doi:10.1046/j.1523-1755.2000.057003898.x. PMID 10720943. 
  • Bingham C, Bulman MP, Ellard S, et al. (2001). "Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.". Am. J. Hum. Genet. 68 (1): 219–24. PMID 11085914. 
  • Ek J, Grarup N, Urhammer SA, et al. (2002). "Studies of the variability of the hepatocyte nuclear factor-1beta (HNF-1beta / TCF2) and the dimerization cofactor of HNF-1 (DcoH / PCBD) genes in relation to type 2 diabetes mellitus and beta-cell function.". Hum. Mutat. 18 (4): 356–7. doi:10.1002/humu.1201. PMID 11668623. 
  • Carbone I, Cotellessa M, Barella C, et al. (2002). "A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.". Diabetologia 45 (1): 153–4. doi:10.1007/s001250200019. PMID 11845237. 
  • Yoshiuchi I, Yamagata K, Zhu Q, et al. (2002). "Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.". Diabetologia 45 (1): 154–5. doi:10.1007/s001250200020. PMID 11845238. 
  • Hu C, Perlmutter DH (2002). "Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells.". Am. J. Physiol. Lung Cell Mol. Physiol. 282 (4): L757–65. doi:10.1152/ajplung.00271.2001. PMID 11880302. 
  • Bingham C, Ellard S, Cole TR, et al. (2002). "Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.". Kidney Int. 61 (4): 1243–51. doi:10.1046/j.1523-1755.2002.00272.x. PMID 11918730. 
  • Selisko T, Vcelák J, Bendlová B, et al. (2002). "Mutations and intronic variants in the HNF-1 beta gene in a group of German and Czech Caucasians with type 2 diabetes mellitus and progressive diabetic nephropathy.". Exp. Clin. Endocrinol. Diabetes 110 (3): 145–7. doi:10.1055/s-2002-29093. PMID 12012276. 
  • Furuta H, Furuta M, Sanke T, et al. (2002). "Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.". J. Clin. Endocrinol. Metab. 87 (8): 3859–63. PMID 12161522. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Bingham C, Ellard S, van't Hoff WG, et al. (2003). "Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation.". Kidney Int. 63 (5): 1645–51. doi:10.1046/j.1523-1755.2003.00903.x. PMID 12675839. 

[edit] External links

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

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD