• Gene id: 6928

Gene Summary

• Gene Symbol: HNF1B   Gene   UCSC   Ensembl
• Aliases: FJHN, HNF-1-beta, HNF-1B, HNF1beta, HNF2, HPC11, LF-B3, LFB3, MODY5, TCF-2, TCF2, VHNF1
• Gene name: HNF1 homeobox B
• Alternate names: hepatocyte nuclear factor 1-beta, HNF1 beta A, homeoprotein LFB3, transcription factor 2, hepatic,
• Gene location: 17q12 (37745077: 37686430)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function
• OMIM: 189907

Protein Summary

• Protein general information: P35680  
  • Name: Hepatocyte nuclear factor 1 beta (HNF 1 beta) (HNF 1B) (Homeoprotein LFB3) (Transcription factor 2) (TCF 2) (Variant hepatic nuclear factor 1) (vHNF1)
  • Length: 557  
  • Mass: 61,324
• Sequence:

  MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLS
  GDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHL
  SQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSE
  PTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWF
  ANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMV
  TSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNT
  SQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHT
  SRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW

• Structural information:
  • Interpro: IPR006899  IPR023219  IPR006897  IPR009057  IPR001356   IPR010982  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2DA6 2H8R 5K9S
  • PDBsum: 2DA6 2H8R 5K9S
  • STRING: ENSP00000225893
• Other Databases: GeneCards:  HNF1B  Malacards:  HNF1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001159	core promoter proximal region DNA binding	IEA	molecular function
GO:0001714	endodermal cell fate specification	IEA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IDA	biological process
GO:0001826	inner cell mass cell differentiation	IEA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0030111	regulation of Wnt signaling pathway	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0031018	endocrine pancreas development	IMP	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0035565	regulation of pronephros size	IMP	biological process
GO:0039020	pronephric nephron tubule development	IGI	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042663	regulation of endodermal cell fate specification	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048793	pronephros development	IMP	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0060677	ureteric bud elongation	IEA	biological process
GO:0061017	hepatoblast differentiation	IEA	biological process
GO:0061296	negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	IEA	biological process
GO:0065004	protein-DNA complex assembly	IEA	biological process
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	IEA	biological process
GO:0072181	mesonephric duct formation	IEA	biological process
GO:1900212	negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0001159	core promoter proximal region DNA binding	IEA	molecular function
GO:0001714	endodermal cell fate specification	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IDA	biological process
GO:0001826	inner cell mass cell differentiation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0009743	response to carbohydrate	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0030111	regulation of Wnt signaling pathway	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0031018	endocrine pancreas development	IMP	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0035565	regulation of pronephros size	IMP	biological process
GO:0039020	pronephric nephron tubule development	IGI	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042663	regulation of endodermal cell fate specification	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048793	pronephros development	IMP	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0060677	ureteric bud elongation	IEA	biological process
GO:0060993	kidney morphogenesis	IEA	biological process
GO:0061017	hepatoblast differentiation	IEA	biological process
GO:0061296	negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	IEA	biological process
GO:0065004	protein-DNA complex assembly	IEA	biological process
GO:0070365	hepatocyte differentiation	IEA	biological process
GO:0072095	regulation of branch elongation involved in ureteric bud branching	IEA	biological process
GO:0072164	mesonephric tubule development	IEA	biological process
GO:0072176	nephric duct development	IEA	biological process
GO:0072177	mesonephric duct development	IEA	biological process
GO:0072179	nephric duct formation	IEA	biological process
GO:0072181	mesonephric duct formation	IEA	biological process
GO:1900212	negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IEA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001822	kidney development	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031018	endocrine pancreas development	IMP	biological process
GO:0035565	regulation of pronephros size	IMP	biological process
GO:0039020	pronephric nephron tubule development	IGI	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0048793	pronephros development	IMP	biological process
GO:0048806	genitalia development	IMP	biological process
GO:0060261	positive regulation of transcription initiation from RNA polymerase II promoter	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Cancer	GAD: 21743057
Cancer	GAD: 20526366
Cancer (prostate)	GAD: 17603485
Cancer (prostate)	GAD: 18264096
Cancer (salivary gland)	KEGG: H01508
Cancer (endometrial)	GAD: 21499250
Magnesium deficiency	GAD: 19389850
Obesity	GAD: 20712903
Diabetes	GAD: 11716293
Diabetes	KEGG: H00409
Maturity onset diabetes of the young	KEGG: H00410
Diabetes	GAD: 11668623
Kidney diseases	GAD: 20155289
Posterior urethral valves, congenital ureteropelvic junction obstruction	MIK: 25754277
Male factor infertility	MIK: 26946416
Genital malformation, vaginal aplasia, rudimentary uterus , mullerian aplasia	INFBASE: 10484768
Uromodulin-associated kidney diseases	KEGG: H00541
Posterior urethral valves, congenital ureteropelvic junction obstruction	MIK: 25754277
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25754277	Posterior urethral valves, congenital ureteropelvic junction obstruction	Q248X		1 boy with metabolic syndrome, spina bifida occulta, posterior urethral valves, congenital ureteropelvic junction obstruction	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)