Endometriosis Knowledgebase

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Gene id

6928

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

OMIM

189907

SNPs

rs11651755

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000679.2   g.37739849T>C
NC_000017.10   g.36099840C>T
NC_000017.11   g.37739849T>C
NG_013019.2   g.10258A=
NG_013019.2   g.10258A>G
NM_000458.3   c.345-210A>G
NM_000458.3   c.345-210G>A
NM_001165923.3   c.345-210A>G
NM_001165923.3   c.345-210G>A
NM_001304286.1   c.345-210A>G
NM_001304286.1   c.345-210G>A
NT_187614.1   g.1978905C=
NT_187614.1   g.1978905C>T

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
Pfam:	PF04814 PF04812 PF00046
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 tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0001159	core promoter proximal re gion DNA binding	IEA	molecular_function
GO:0001714	endodermal cell fate spec ification	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 diff erentiation	IEA	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific 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 comp lex	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0007219	Notch signaling pathway	IEA	biological_process
GO:0009749	response to glucose	IEA	biological_process
GO:0009952	anterior/posterior patter n specification	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030073	insulin secretion	IEA	biological_process
GO:0030111	regulation of Wnt signali ng pathway	IEA	biological_process
GO:0030902	hindbrain development	IEA	biological_process
GO:0031018	endocrine pancreas develo pment	IMP	biological_process
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032922	circadian regulation of g ene 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 bin ding	IEA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological_process
GO:0048754	branching morphogenesis o f an epithelial tube	IEA	biological_process
GO:0048793	pronephros development	IMP	biological_process
GO:0048806	genitalia development	IMP	biological_process
GO:0050673	epithelial cell prolifera tion	IEA	biological_process
GO:0060261	positive regulation of tr anscription initiation fr om RNA polymerase II prom oter	IDA	biological_process
GO:0060677	ureteric bud elongation	IEA	biological_process
GO:0061017	hepatoblast differentiati on	IEA	biological_process
GO:0061296	negative regulation of me senchymal cell apoptotic process involved in meson ephric nephron morphogene sis	IEA	biological_process
GO:0065004	protein-DNA complex assem bly	IEA	biological_process
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0072095	regulation of branch elon gation involved in ureter ic bud branching	IEA	biological_process
GO:0072181	mesonephric duct formatio n	IEA	biological_process
GO:1900212	negative regulation of me senchymal cell apoptotic process involved in metan ephros development	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0001159	core promoter proximal re gion DNA binding	IEA	molecular_function
GO:0001714	endodermal cell fate spec ification	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 diff erentiation	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 acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific 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 comp lex	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, 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 patter n specification	IEA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0030073	insulin secretion	IEA	biological_process
GO:0030111	regulation of Wnt signali ng pathway	IEA	biological_process
GO:0030902	hindbrain development	IEA	biological_process
GO:0031018	endocrine pancreas develo pment	IMP	biological_process
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032922	circadian regulation of g ene 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 ap optotic process	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IEA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological_process
GO:0048598	embryonic morphogenesis	IEA	biological_process
GO:0048754	branching morphogenesis o f an epithelial tube	IEA	biological_process
GO:0048793	pronephros development	IMP	biological_process
GO:0048806	genitalia development	IMP	biological_process
GO:0050673	epithelial cell prolifera tion	IEA	biological_process
GO:0060261	positive regulation of tr anscription initiation fr om RNA polymerase II prom oter	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 differentiati on	IEA	biological_process
GO:0061296	negative regulation of me senchymal cell apoptotic process involved in meson ephric nephron morphogene sis	IEA	biological_process
GO:0065004	protein-DNA complex assem bly	IEA	biological_process
GO:0070365	hepatocyte differentiatio n	IEA	biological_process
GO:0072095	regulation of branch elon gation involved in ureter ic bud branching	IEA	biological_process
GO:0072164	mesonephric tubule develo pment	IEA	biological_process
GO:0072176	nephric duct development	IEA	biological_process
GO:0072177	mesonephric duct developm ent	IEA	biological_process
GO:0072179	nephric duct formation	IEA	biological_process
GO:0072181	mesonephric duct formatio n	IEA	biological_process
GO:1900212	negative regulation of me senchymal cell apoptotic process involved in metan ephros 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 acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA 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 develo pment	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 tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048793	pronephros development	IMP	biological_process
GO:0048806	genitalia development	IMP	biological_process
GO:0060261	positive regulation of tr anscription initiation fr om RNA polymerase II prom oter	IDA	biological_process

KEGG pathways

hsa04950 Maturity onset diabetes of the young

Diseases

Associated diseases	References
Ovarian cancer	INFBASE28214017
Endometriosis	INFBASE28214017
{Renal cell carcinoma}	OMIM189907
Diabetes mellitus, noninsulin-dependent	OMIM189907
Autosomal dominant tubulointerstitial kidney disease (ADTKD)	KEGGH00541
Type II diabetes mellitus	KEGGH00409
Maturity onset diabetes of the young (MODY)	KEGGH00410

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28214017	Endometrio sis	rs11651755		869 (385 cases, 484 controls)			Show abstract