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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HNF1B Gene

protein-coding GIFtS: 60
GCID: GC17M036046

HNF1 homeobox B

(Previous names: transcription factor 2, hepatic; LF-B3; variant hepatic...)
(Previous symbol: TCF2)

Explore 56 diseases affiliated with
HNF1B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
HNF1 Homeobox B¹ ²		HNF2² ⁵
TCF2¹ ² ³ ⁵		HPC11² ⁵
MODY5¹ ² ⁵		Transcription Factor 2, Hepatic; LF-B3; Variant Hepatic Nuclear Factor¹
HNF1beta¹ ²		LF-B3²
LFB3¹ ²		Hepatocyte Nuclear Factor 1-Beta²
VHNF1¹ ²		HNF1 Beta A²
Homeoprotein LFB3² ³		Transcription Factor 2, Hepatic²
HNF-1-Beta¹		Transcription Factor 2³
HNF-1B² ³		VHNF1¹ ²
TCF-2² ³		Variant Hepatic Nuclear Factor 1³
FJHN² ⁵

External Ids:	HGNC: 11630¹	Entrez Gene: 6928²	Ensembl: ENSG00000108753⁷	OMIM: 189907⁵	UniProtKB: P35680³

Export aliases for HNF1B gene to outside databases

Previous GC identifers: GC17M033121 GC17M031984

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HNF1B:

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)

UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680

Function: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'

Gene Wiki entry for HNF1B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HNF1B gene promoter:
HEN1 deltaCREB HOXA5 Nkx2-5 CUTL1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HNF1B promoter sequence

Search SABiosciences Chromatin IP Primers for HNF1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HNF1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12 Ensembl cytogenetic band: 17q12 HGNC cytogenetic band: 17q12

HNF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HNF1B gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M036046: view genomic region (about GC identifiers)

Start:	36,046,434 bp from pter	End:	36,105,237 bp from pter
Size:	58,804 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680 (See protein sequence)

Recommended Name: Hepatocyte nuclear factor 1-beta

Size: 557 amino acids; 61324 Da

Subunit: Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha

Subcellular location: Nucleus

2 PDB 3D structures from and Proteopedia for HNF1B:

2DA6 (3D)

2H8R (3D)

Secondary accessions: B4DKM3

Alternative splicing: 3 isoforms: P35680-1 P35680-2 P35680-3

Explore the universe of human proteins at neXtProt for HNF1B: NX_P35680

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P35680

HNF1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000449.1 NP_001159395.1

ENSEMBL proteins:

ENSP00000225893 ENSP00000452674 ENSP00000453099 ENSP00000412212

Reactome Protein details: P35680
Human Recombinant Protein Products for HNF1B:

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	Browse Proteins at Uscn

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005667	transcription factor complex	IEA	--
GO:0005730	NOT nucleolus	IDA	--

HNF1B for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HNF1B for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR010982 Lambda_DNA-bd_dom

IPR006899 HNF-1_N

IPR006897 HNF1b_C

IPR023219 HNF1_dimer_dom

IPR001356 Homeodomain

Graphical View of Domain Structure for InterPro Entry P35680

ProtoNet protein and cluster: P35680

1 Blocks protein family: IPB006899 Hepatocyte nuclear factor 1

UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680

Similarity: Belongs to the HNF1 homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HNF1B_HUMAN, P35680

Function: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IDA	1677179
GO:0003700	sequence-specific DNA binding transcription factor activity	IDA	15509593
GO:0003705	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0042803	protein homodimerization activity	IPI	1677179

HNF1B for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Hnf1b):

embryogenesis	endocrine/exocrine gland	growth/size	homeostasis/metabolism	immune system
liver/biliary system	mortality/aging	muscle

HNF1B for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Hnf1b^tm2Mya for HNF1B

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HNF1B

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		8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate HNF1B (see all 38):
		hsa-miR-4328 hsa-miR-429 hsa-miR-199a-3p hsa-miR-25 hsa-miR-10b* hsa-miR-877* hsa-miR-1244 hsa-miR-4325

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HNF1B

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of beta-cell development

Regulation of beta-cell development

1.00

Maturity onset diabetes of the young

0.56

HNF6-dependent synthesis of HNF1B protein

HNF6-dependent synthesis of HNF1B protein

1.00

Selected targets of HNF1

Selected targets of HNF1

1.00

Axon guidance

Developmental Biology

0.69

Type II diabetes mellitus

Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for HNF1B

Selected targets of HNF1

4 Reactome Pathways for HNF1B

	Developmental Biology
	Regulation of beta-cell development
	HNF6-dependent synthesis of HNF1B protein
	Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells

1 PharmGKB Pathway for HNF1B

Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for HNF1B):

Maturity onset diabetes of the young

HNF1B for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HNF1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/15 Interacting proteins for HNF1B (P35680³ ENSP00000225893⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H3A	P68431³, ENSP00000350275⁴	I2D: score=1 STRING: ENSP00000350275
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1
HIST1H3E	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001714	endodermal cell fate specification	IEA	--
GO:0001822	kidney development	IMP	16801329
GO:0001826	inner cell mass cell differentiation	IEA	--
GO:0001889	liver development	--	--

HNF1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HNF1B for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HNF1B
9 Novoseek chemical compound relationships for HNF1B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nnmt	65.9	10	15486044 (4), 16676400 (3)
glucose	19.8	33	16443774 (5), 17194452 (4), 15142986 (3), 15111528 (3) (see all 11)
oligonucleotide	14.5	1	10491332 (1)
uric acid	13	7	12675839 (3), 17855651 (1), 15086896 (1)
nicotinamide	12.7	2	15486044 (1), 16676400 (1)
cholesterol	0	3	19116028 (1), 15111528 (1)
arginine	0	1	17878605 (1)
tetracycline	0	2	16297991 (1)
retinoic acid	0	2	8622679 (1), 10652435 (1)

Search CenterWatch for drugs/clinical trials and news about HNF1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HNF1B gene (3 alternative transcripts):

NM_000458.2 NM_001165923.1 NM_006481.1

Unigene Cluster for HNF1B:

HNF1 homeobox B

Hs.191144 [show with all ESTs]

Unigene Representative Sequence: NM_000458

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000225893(uc021tvu.1 uc010wdi.2 uc002hok.4 uc021tvv.1 uc021tvw.1)

ENST00000561193 ENST00000560016 ENST00000427275 ENST00000459669(uc010cve.1)

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		8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate HNF1B (see all 38):
		hsa-miR-4328 hsa-miR-429 hsa-miR-199a-3p hsa-miR-25 hsa-miR-10b* hsa-miR-877* hsa-miR-1244 hsa-miR-4325

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Additional cDNA sequence:

AK290131.1 AK296633.1 AK298393.1 BC017714.1 BT007126.1 CR536572.1 HM116553.1 HM116554.1

HM116555.1 HM116556.1 X58840.1

2 DOTS entries:

DT.212271 DT.95103715

24/47 AceView cDNA sequences (see all 47):

BM821671 BF109358 AA862507 CR536572 AA904923 BG164418 AI051541 BX950911

AU129622 BI762215 AI240559 AI337567 NM_000458 BM756759 X58840 BM751822

BM747027 BG822302 BC017714 AI628435 BE870952 AU129722 BT007126 AW190750

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HNF1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGCTTCCT

About this image

HNF1B expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/23 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 23)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Pancreas

Dorsal Pancreatic Bud

Bipotent Endocrine/Duct Progenitor Cells

Selective marker (cell-identifying gene)

Pancreas

Pancreatic Ducts

Duct Cells

Pancreas

Prepancreatic Ventral Foregut Endoderm

Pre-Pancreatic Foregut Endoderm Cells

Pancreas

Ventral Pancreatic Bud

Bipotent Endocrine/Duct Progenitor Cells

Pancreas

Liver

Dorsal Foregut Endoderm

Dorsal Foregut Endoderm Cells

Endoderm

Gut Tube

Primitive Gut Endoderm Cells

Endoderm

Gut Tube

Ventral Foregut Endoderm

Hepatic Endoderm Cells

Liver

Gut Tube

Ventral Foregut Endoderm

Ventral Foregut Endoderm Cells

Endoderm

Hypoblast

Hypoblast Cells

Extraembryonic Tissues

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

mK4 (Cell line)

Kidney

mK3 (Cell line)

Kidney

Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)

Extraembryonic Tissues

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Endoderm progenitor-like cells (Generation and expan...)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

Posterior foregut-like cells (A scalable, suspensi...)

Primitive gut tube-like cells (Generation of beta c...)

See HNF1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HNF1B

SOURCE GeneReport for Unigene cluster: Hs.191144

SABiosciences Expression via Pathway-Focused PCR Arrays including HNF1B:

Primary Cilia in human mouse rat

Diabetes in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HNF1B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HNF1B gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HNF1B¹	HNF1 homeobox B	83.21(n) 88.27(a)		427838 XM_003642413.1 XP_003642461.1
lizard (Anolis carolinensis)	Reptilia	HNF1B⁶	--	85(a)	1 ↔ 1	GL343731.1(213490-257295)
African clawed frog (Xenopus laevis)	Amphibia	tcf2-prov²	transcription factor 2	78.58(n)		X76052.1
zebrafish (Danio rerio)	Actinopterygii	tcf2²	transcription factor 2, hepatic	77.67(n)		140745 AF244140.1

ENSEMBL Gene Tree for HNF1B (if available)
TreeFam Gene Tree for HNF1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HNF1B gene

HNF1A² HMBOX1²

3 SIMAP similar genes for HNF1B using alignment to 6 protein entries: HNF1B_HUMAN (see all proteins):

TCF2 HNF1A HNF1alpha

HNF1B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs59527848^1,2	C,F	non-pathogenic	32367889(+)	`CAGATG/AGTTAG`	2	--	int¹		1		WA	118
rs3110641^1,2	C,F,A,H	non-pathogenic	36047417(-)	`AGCACC/TCTCTC`	2	--	int¹ trp³		26		EU NS EA NA WA CSA	4585
rs1800575^1,2	C	pathogenic	32368092(-)	`AGCAAC/TGAGAG`	4	R *	stg¹		2		NA	4
rs139107479^1,2	C	probable-non-pathogenic	32362735(+)	`CAGCAC/ACTCCT`	4	/V /L	mis¹		1		NA	4484
rs144249535^1,2	C,F	probable-non-pathogenic	32373930(+)	`CGATCG/ATAGGC`	4	/Y	syn¹		1		NA	4552
rs145750370^1,2	C,F	probable-non-pathogenic	32375859(+)	`CTATAG/CGCGTC`	4	/A	syn¹		1		NA	4552
rs140781855^1,2	C,F	probable-non-pathogenic	32406345(+)	`TGGACG/AGGCTG`	4	/P	syn¹		1		NA	2742
rs138986885^1,2	C,F	probable-pathogenic	32375914(+)	`GTGGTA/C/GGGGGG`	6	H D Y	mis¹		2		NA EU	5463
rs141166864^1,2	C	unknown	32375965(+)	`GCCCAA/GCCTTT`	2	--	int¹		0	--	--	--	--
rs34714301^1,2	C,F	--	31983743(+)	`TTACCA/C/TGCAGA`	2	--	ds500¹ int¹		3		NA	6

HapMap Linkage Disequilibrium report for HNF1B (36046434 - 36105237 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for HNF1B
1 CNV: 4034
1 Inversion: 37189
Human Gene Mutation Database (HGMD): HNF1B

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing HNF1B:

Birth Defects

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HNF1B

DNA2.0 Custom Variant and Variant Library Synthesis for HNF1B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HNF1B for disorders           About GeneDecksing

OMIM gene information: 189907
OMIM disorders: 137920  125853  144700
UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680

Defects in HNF1B are the cause of renal cysts and diabetes syndrome (RCAD) [MIM:137920]; also called

maturity-onset diabetes of the young type 5 (MODY5) or familial hypoplastic glomerulocystic kidney disease (GCKD).

RCAD is an autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal

development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a

diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal

cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia,

enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy

Defects in HNF1B may be rare genetic risk factor contributing to the development of non-insulin-dependent

diabetes mellitus (NIDDM) [MIM:125853]. NIDDM is characterized by an autosomal dominant mode of inheritance, onset

during adulthood and insulin resistance

Defects in HNF1B may be a cause of susceptibility to prostate cancer hereditary type 11 (HPC11) [MIM:611955].

It is a condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are

adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer

that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal

carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma

(basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma

20/56 diseases for HNF1B (see all 56): About MalaCards

diabetes mellitus diabetes mellitus, noninsulin-dependent maturity-onset diabetes of the young, type 5 maturity-onset diabetes of the young

hyperuricemic nephropathy familial juvenile hyperuricemic nephropathy hepatitis neonatal diabetes mellitus

clear cell adenocarcinoma developmental disabilities glomerulocystic kidney disease chromophobe renal cell carcinoma

polycystic kidney disease vesicoureteral reflux type 2 diabetes mellitus endometrial clear cell adenocarcinoma

horseshoe kidney ovarian clear cell adenocarcinoma kidney disease insulin resistance

2 diseases from the University of Copenhagen DISEASES database for HNF1B:

maturity-onset diabetes of the young Diabetes mellitus

10/48 Novoseek disease relationships for HNF1B gene (see all 48) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pancreas atrophy	91.8	3	16297991 (1)
renal cyst	85.5	28	15930087 (3), 15067314 (3), 16971658 (2), 11562418 (2) (see all 18)
niddm	79.3	64	16249435 (2), 18249217 (2), 11668623 (2), 16837621 (2) (see all 40)
cystic kidney disease	70	7	16932376 (2), 15269167 (1), 15086896 (1)
renal dysplasia	69.9	2	11317673 (1), 12874457 (1)
hyperuricemic nephropathy, familial juvenile	65	1	12675839 (1)
arpkd	64.6	17	15067314 (5), 18097590 (3), 15649945 (2), 15029248 (1) (see all 5)
neonatal diabetes mellitus	59.6	4	15181075 (3), 16207896 (1)
polycystic kidney diseases	57.4	6	15029248 (1), 15649945 (1), 18037103 (1), 19966811 (1) (see all 5)
renal disease	56.1	42	17971380 (4), 12911528 (3), 19564751 (3), 14583183 (2) (see all 22)

Human Genome Epidemiology (HuGE) Navigator: HNF1B (70 documents)

Export disorders for HNF1B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HNF1B gene, integrated from 9 sources (see all 291):
(articles sorted by number of sources associating them with HNF1B)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 10484768)^{1, 2, 3, 9} Lindner T.H....Soevik O. (1999)
Two members of an HNF1 homeoprotein family are expressed in human liver. (PubMed id 1677179)^{1, 2, 3} Bach I.... Yaniv M. (1991)
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. (PubMed id 16249435)^{1, 2, 9} Bellanne-Chantelot C.... Timsit J. (2005)
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. (PubMed id 11918730)^{1, 2, 9} Bingham C.... Hattersley A.T. (2002)
Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy. (PubMed id 14583183)^{1, 2, 9} So W.Y....Chan J.C. (2003)
Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. (PubMed id 12161522)^{1, 2, 9} Furuta H.... Nanjo K. (2002)
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. (PubMed id 9398836)^{1, 2, 9} Horikawa Y.... Bell G.I. (1997)
More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing. (PubMed id 7900999)^{1, 2, 9} Bach I. and Yaniv M. (1993)
Multiple newly identified loci associated with prostate cancer susceptibility. (PubMed id 18264097)^{1, 2} Eeles R.A....Easton D.F. (2008)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6928	HGNC: 11630	AceView: TCF2	Ensembl:ENSG00000108753	euGenes: HUgn6928
ECgene: HNF1B	Kegg: 6928	H-InvDB: HNF1B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HNF1B	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HNF1B
Wikipedia	http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors

Intellectual Property for HNF1B gene
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HNF1B Gene

HNF1 homeobox B

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HNF1B (Gene Symbol)
HNF1 Homeobox B
TCF2
MODY5
HNF1beta
LFB3
VHNF1
Homeoprotein LFB3
HNF-1-Beta
HNF-1B
TCF-2
FJHN
HNF2
HPC11
Transcription Factor 2, Hepatic; LF-B3; Variant Hepatic Nuclear Factor
LF-B3
Hepatocyte Nuclear Factor 1-Beta
HNF1 Beta A
Transcription Factor 2, Hepatic
Transcription Factor 2
VHNF1
Variant Hepatic Nuclear Factor 1

HYPERURICEMIA
PANCREAS ATROPHY
Developmental Disabilities
Renal dysplasia
Bicornuate uterus
Hyperinsulinemia
Endometriosis
ARPKD
Polycystic Kidney Diseases
Carcinoma
insulin sensitivity
epithelial tumor
Liver diseases
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
Diabetes Mellitus
Diabetes Renal
Cholestasis
Adenocarcinoma
HEPATOCELLULAR CARCINOMA
Carcinoma Renal Cell
Intrauterine Growth Retardation
Cancer
Gout
Hypoplasia
Shock
RENAL DISEASE
Ovarian Cancer
Carcinoma Mucinous
Insulin Resistance
impaired glucose tolerance
OVARIAN CARCINOMA
Diabetic Nephropathies
Cystic kidney disease
Cysts
papillary thyroid cancer
Hyperglycemia
GENITOURINARY ANOMALY
Atrophy
Hypertrophy
Renal Failure
FUNCTION LIVER ABNORMAL
prostate cancer
RENAL CYST
UTERINE ABNORMALITY
Tumors
Neonatal diabetes mellitus
NIDDM
Renal Failure Chronic

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HNF1B Gene

HNF1 homeobox B

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