HNF1B: Difference between revisions

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m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (1) HNF1B is protein not a factor. 2) HNF1B is NOT liver specific. According to NCBI gene https://www.ncbi.nlm.nih.gov/gene?cmd=retrieve&dopt=default&rn=1&list_uids=6928), the HNF1B is most highly expressed in kidney.)
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{{Infobox_gene}}
{{PBB_Controls
'''HNF1 homeobox B''' (hepatocyte nuclear factor 1 homeobox B), also known as '''HNF1B''' or '''transcription factor 2''' ('''TCF2'''), is a human [[gene]].
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_TCF2_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2da6.
| PDB = {{PDB2|2da6}}
| Name = HNF1 homeobox B
| HGNCid = 11630
| Symbol = HNF1B
| AltSymbols =; FJHN; TCF2; HNF1beta; HNF2; LFB3; MODY5; VHNF1
| OMIM = 189907
| ECnumber = 
| Homologene = 396
| MGIid = 98505
| GeneAtlas_image1 = PBB_GE_TCF2_205313_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0016563 |text = transcription activator activity}} {{GNF_GO|id=GO:0042803 |text = protein homodimerization activity}} {{GNF_GO|id=GO:0043565 |text = sequence-specific DNA binding}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}} {{GNF_GO|id=GO:0005667 |text = transcription factor complex}}
| Process = {{GNF_GO|id=GO:0009952 |text = anterior/posterior pattern formation}} {{GNF_GO|id=GO:0030902 |text = hindbrain development}} {{GNF_GO|id=GO:0045944 |text = positive regulation of transcription from RNA polymerase II promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6928
    | Hs_Ensembl = ENSG00000108753
    | Hs_RefseqProtein = NP_000449
    | Hs_RefseqmRNA = NM_000458
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 33120548
    | Hs_GenLoc_end = 33179182
    | Hs_Uniprot = P35680
    | Mm_EntrezGene = 21410
    | Mm_Ensembl = ENSMUSG00000020679
    | Mm_RefseqmRNA = XM_001002217
    | Mm_RefseqProtein = XP_001002217
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 83667064
    | Mm_GenLoc_end = 83722010
    | Mm_Uniprot = Q2M4H2
  }}
}}
'''HNF1 homeobox B''' (hepatocyte nuclear factor 1 homeobox B), also known as '''HNF1B''' or '''transcription factor 2''' ('''TCF2'''), is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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. 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.<ref name="entrez">{{cite web | title = Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6928| accessdate = }}</ref>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TCF2 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6928| accessdate = }}</ref>
}}


==See also==
== See also ==
* [[Hepatocyte nuclear factors]]
* [[Hepatocyte nuclear factors]]


==References==
== References ==
{{reflist|2}}
{{reflist}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite journal | vauthors = Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F | title = 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 | journal = Am. J. Kidney Dis. | volume = 40 | issue = 2 | pages = 397–402 | year = 2002 | pmid = 12148114 | doi = 10.1053/ajkd.2002.34538 }}
| citations =
*{{cite journal | vauthors = Bach I, Mattei MG, Cereghini S, Yaniv M | title = Two members of an HNF1 homeoprotein family are expressed in human liver | journal = Nucleic Acids Res. | volume = 19 | issue = 13 | pages = 3553–9 | year = 1991 | pmid = 1677179 | pmc = 328379 | doi = 10.1093/nar/19.13.3553 }}
*{{cite journal | author=Montoli A, Colussi G, Massa O, ''et al.'' |title=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. |journal=Am. J. Kidney Dis. |volume=40 |issue= 2 |pages= 397-402 |year= 2002 |pmid= 12148114 |doi= }}
*{{cite journal | vauthors = Mendel DB, Hansen LP, Graves MK, Conley PB, Crabtree GR | title = HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro | journal = Genes Dev. | volume = 5 | issue = 6 | pages = 1042–56 | year = 1991 | pmid = 2044952 | doi = 10.1101/gad.5.6.1042 }}
*{{cite journal | author=Bach I, Mattei MG, Cereghini S, Yaniv M |title=Two members of an HNF1 homeoprotein family are expressed in human liver. |journal=Nucleic Acids Res. |volume=19 |issue= 13 |pages= 3553-9 |year= 1991 |pmid= 1677179 |doi= }}
*{{cite journal | vauthors = Abbott C, Piaggio G, Ammendola R, Solomon E, Povey S, Gounari F, De Simone V, Cortese R | title = Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction | journal = Genomics | volume = 8 | issue = 1 | pages = 165–7 | year = 1991 | pmid = 2081590 | doi = 10.1016/0888-7543(90)90239-Q }}
*{{cite journal | author=Mendel DB, Hansen LP, Graves MK, ''et al.'' |title=HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro. |journal=Genes Dev. |volume=5 |issue= 6 |pages= 1042-56 |year= 1991 |pmid= 2044952 |doi= }}
*{{cite journal | vauthors = Bach I, Yaniv M | title = More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing | journal = EMBO J. | volume = 12 | issue = 11 | pages = 4229–42 | year = 1993 | pmid = 7900999 | pmc = 413717 | doi =  }}
*{{cite journal | author=Abbott C, Piaggio G, Ammendola R, ''et al.'' |title=Mapping of the gene TCF2 coding for the transcription factor LFB3 to human chromosome 17 by polymerase chain reaction. |journal=Genomics |volume=8 |issue= 1 |pages= 165-7 |year= 1991 |pmid= 2081590 |doi= }}
*{{cite journal | vauthors = Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI | title = Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY | journal = Nat. Genet. | volume = 17 | issue = 4 | pages = 384–5 | year = 1997 | pmid = 9398836 | doi = 10.1038/ng1297-384 }}
*{{cite journal | author=Bach I, Yaniv M |title=More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. |journal=EMBO J. |volume=12 |issue= 11 |pages= 4229-42 |year= 1993 |pmid= 7900999 |doi=  }}
*{{cite journal | vauthors = Soubt MK, Marksitzer R, Menoud PA, Nagamine Y | title = Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells | journal = Mol. Cell. Biol. | volume = 18 | issue = 8 | pages = 4698–706 | year = 1998 | pmid = 9671480 | pmc = 109056 | doi =  }}
*{{cite journal | author=Horikawa Y, Iwasaki N, Hara M, ''et al.'' |title=Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. |journal=Nat. Genet. |volume=17 |issue= 4 |pages= 384-5 |year= 1997 |pmid= 9398836 |doi= 10.1038/ng1297-384 }}
*{{cite journal | vauthors = Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O | title = 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 | journal = Hum. Mol. Genet. | volume = 8 | issue = 11 | pages = 2001–8 | year = 1999 | pmid = 10484768 | doi = 10.1093/hmg/8.11.2001 }}
*{{cite journal | author=Soubt MK, Marksitzer R, Menoud PA, Nagamine Y |title=Role of tissue-specific transcription factor LFB3 in a cyclic AMP-responsive enhancer of the urokinase-type plasminogen activator gene in LLC-PK1 cells. |journal=Mol. Cell. Biol. |volume=18 |issue= 8 |pages= 4698-706 |year= 1998 |pmid= 9671480 |doi=  }}
*{{cite journal | vauthors = Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, Ryffel GU, Nicholls AJ, Hattersley AT | title = Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta | journal = Kidney Int. | volume = 57 | issue = 3 | pages = 898–907 | year = 2000 | pmid = 10720943 | doi = 10.1046/j.1523-1755.2000.057003898.x }}
*{{cite journal | author=Lindner TH, Njolstad PR, Horikawa Y, ''et al.'' |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 11 |pages= 2001-8 |year= 1999 |pmid= 10484768 |doi= }}
*{{cite journal | vauthors = Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT | title = Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease | journal = Am. J. Hum. Genet. | volume = 68 | issue = 1 | pages = 219–24 | year = 2001 | pmid = 11085914 | pmc = 1234916 | doi = 10.1086/316945 }}
*{{cite journal | author=Bingham C, Ellard S, Allen L, ''et al.'' |title=Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. |journal=Kidney Int. |volume=57 |issue= 3 |pages= 898-907 |year= 2000 |pmid= 10720943 |doi= 10.1046/j.1523-1755.2000.057003898.x }}
*{{cite journal | vauthors = Ek J, Grarup N, Urhammer SA, Gaede PH, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O | title = 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 | journal = Hum. Mutat. | volume = 18 | issue = 4 | pages = 356–7 | year = 2002 | pmid = 11668623 | doi = 10.1002/humu.1201 }}
*{{cite journal | author=Bingham C, Bulman MP, Ellard S, ''et al.'' |title=Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. |journal=Am. J. Hum. Genet. |volume=68 |issue= 1 |pages= 219-24 |year= 2001 |pmid= 11085914 |doi= }}
*{{cite journal | vauthors = Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R | title = A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes | journal = Diabetologia | volume = 45 | issue = 1 | pages = 153–4 | year = 2002 | pmid = 11845237 | doi = 10.1007/s001250200019 }}
*{{cite journal | author=Ek J, Grarup N, Urhammer SA, ''et al.'' |title=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. |journal=Hum. Mutat. |volume=18 |issue= 4 |pages= 356-7 |year= 2002 |pmid= 11668623 |doi= 10.1002/humu.1201 }}
*{{cite journal | vauthors = Yoshiuchi I, Yamagata K, Zhu Q, Tamada I, Takahashi Y, Onigata K, Takeda J, Miyagawa J, Matsuzawa Y | title = Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY | journal = Diabetologia | volume = 45 | issue = 1 | pages = 154–5 | year = 2002 | pmid = 11845238 | doi = 10.1007/s001250200020 }}
*{{cite journal | author=Carbone I, Cotellessa M, Barella C, ''et al.'' |title=A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. |journal=Diabetologia |volume=45 |issue= 1 |pages= 153-4 |year= 2002 |pmid= 11845237 |doi= 10.1007/s001250200019 }}
*{{cite journal | vauthors = Hu C, Perlmutter DH | title = Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells | journal = Am. J. Physiol. Lung Cell Mol. Physiol. | volume = 282 | issue = 4 | pages = L757–65 | year = 2002 | pmid = 11880302 | doi = 10.1152/ajplung.00271.2001 }}
*{{cite journal | author=Yoshiuchi I, Yamagata K, Zhu Q, ''et al.'' |title=Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY. |journal=Diabetologia |volume=45 |issue= 1 |pages= 154-5 |year= 2002 |pmid= 11845238 |doi= 10.1007/s001250200020 }}
*{{cite journal | vauthors = Bingham C, Ellard S, Cole TR, Jones KE, Allen LI, Goodship JA, Goodship TH, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT | title = Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations | journal = Kidney Int. | volume = 61 | issue = 4 | pages = 1243–51 | year = 2002 | pmid = 11918730 | doi = 10.1046/j.1523-1755.2002.00272.x }}
*{{cite journal | author=Hu C, Perlmutter DH |title=Cell-specific involvement of HNF-1beta in alpha(1)-antitrypsin gene expression in human respiratory epithelial cells. |journal=Am. J. Physiol. Lung Cell Mol. Physiol. |volume=282 |issue= 4 |pages= L757-65 |year= 2002 |pmid= 11880302 |doi= 10.1152/ajplung.00271.2001 }}
*{{cite journal | vauthors = Selisko T, Vcelák J, Bendlová B, Graessler J, Schwarz PE, Schulze J | title = 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 | journal = Exp. Clin. Endocrinol. Diabetes | volume = 110 | issue = 3 | pages = 145–7 | year = 2002 | pmid = 12012276 | doi = 10.1055/s-2002-29093 }}
*{{cite journal | author=Bingham C, Ellard S, Cole TR, ''et al.'' |title=Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. |journal=Kidney Int. |volume=61 |issue= 4 |pages= 1243-51 |year= 2002 |pmid= 11918730 |doi= 10.1046/j.1523-1755.2002.00272.x }}
*{{cite journal | vauthors = Furuta H, Furuta M, Sanke T, Ekawa K, Hanabusa T, Nishi M, Sasaki H, Nanjo K | title = Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese | journal = J. Clin. Endocrinol. Metab. | volume = 87 | issue = 8 | pages = 3859–63 | year = 2002 | pmid = 12161522 | doi = 10.1210/jc.87.8.3859 }}
*{{cite journal | author=Selisko T, Vcelák J, Bendlová B, ''et al.'' |title=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. |journal=Exp. Clin. Endocrinol. Diabetes |volume=110 |issue= 3 |pages= 145-7 |year= 2002 |pmid= 12012276 |doi= 10.1055/s-2002-29093 }}
*{{cite journal | vauthors = Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, Owen KR, Spyer G, Pearson ER, Hattersley AT | title = Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation | journal = Kidney Int. | volume = 63 | issue = 5 | pages = 1645–51 | year = 2003 | pmid = 12675839 | doi = 10.1046/j.1523-1755.2003.00903.x }}
*{{cite journal | author=Furuta H, Furuta M, Sanke T, ''et al.'' |title=Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. |journal=J. Clin. Endocrinol. Metab. |volume=87 |issue= 8 |pages= 3859-63 |year= 2002 |pmid= 12161522 |doi= }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Bingham C, Ellard S, van't Hoff WG, ''et al.'' |title=Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. |journal=Kidney Int. |volume=63 |issue= 5 |pages= 1645-51 |year= 2003 |pmid= 12675839 |doi= 10.1046/j.1523-1755.2003.00903.x }}
}}
{{refend}}
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{{Transcription factors}}
{{PDB Gallery|geneid=6928}}
{{Transcription factors|g4}}
 
[[Category:Transcription factors]]
[[Category:Transcription factors]]
{{WikiDoc Sources}}
 
 
{{gene-17-stub}}

Revision as of 18:07, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. 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

  1. ↑ "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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