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HNF1B Gene

protein-coding   GIFtS: 60
GCID: GC17M036046

HNF1 Homeobox B

(Previous names: transcription factor 2, hepatic; LF-B3; variant hepatic...)
(Previous symbol: TCF2)
  See HNF1B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HNF1 Homeobox B1 2     HNF1beta2
TCF21 2 3 5     LF-B32
Homeoprotein LFB32 3     LFB32
HNF-1-beta2 3     VHNF12
HNF-1B2 3     Hepatocyte Nuclear Factor 1-Beta2
TCF-22 3     HNF1 Beta A2
FJHN2 5     Transcription Factor 2, Hepatic2
HNF22 5     Transcription Factor 23
HPC112 5     vHNF13
MODY52 5     Variant Hepatic Nuclear Factor 13
Transcription Factor 2, Hepatic; LF-B3; Variant Hepatic Nuclear Factor1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HNF1B Gene:
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)

GeneCards Summary for HNF1B Gene:
HNF1B (HNF1 homeobox B) is a protein-coding gene. Diseases associated with HNF1B include unilateral multicystic dysplastic kidney, and clear cell adenocarcinoma. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is HNF1A.

UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680
Function: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'

Gene Wiki entry for HNF1B Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  NT_187614.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the HNF1B gene promoter:
         HEN1   deltaCREB   HOXA5   Nkx2-5   CUTL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHNF1B promoter sequence
   Search Chromatin IP Primers for HNF1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
2 PDB 3D structures from and Proteopedia for HNF1B:
2DA6 (3D)        2H8R (3D)    
Secondary accessions: B4DKM3 E0YMJ9
Alternative splicing: 4 isoforms:  P35680-1   P35680-2   P35680-3   P35680-4   

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

Explore proteomics data for HNF1B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HNF1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000449.1  NP_001159395.1  

    ENSEMBL proteins: 
     ENSP00000225893   ENSP00000452674   ENSP00000453099   ENSP00000412212  
    Reactome Protein details: P35680

    HNF1B Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HNF: Homeoboxes / HNF class

    Selected InterPro protein domains (see all 6):
     IPR010982 Lambda_DNA-bd_dom
     IPR006899 HNF-1_N
     IPR006897 HNF1b_C
     IPR023219 HNF1_dimer_dom
     IPR001356 Homeobox_dom

    Graphical View of Domain Structure for InterPro Entry P35680

    ProtoNet protein and cluster: P35680

    1 Blocks protein domain: 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


    Find genes that share domains with HNF1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HNF1B_HUMAN, P35680
    Function: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA1677179
    GO:0003700sequence-specific DNA binding transcription factor activity IDA15509593
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI15509593
    GO:0042803protein homodimerization activity IPI1677179
         
    Find genes that share ontologies with HNF1B           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hnf1b):
     embryogenesis  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  renal/urinary system 

    Find genes that share phenotypes with HNF1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hnf1btm2Mya for HNF1B

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HNF1B
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    miRNA
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    hsa-mir-215-5p (MIRT024651), hsa-mir-192-5p (MIRT026957)

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    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidHNF1B 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat HNF1B

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HNF1B
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    Addgene plasmids for HNF1B 

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    ESI BIO PureStem Progenitor for HNF1B: 
    PureStem ES-209, Meso-prx/latp Progenitor
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HNF1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HNF1B_HUMAN, P35680: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with HNF1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HNF1B About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Regulation of gene expression in early pancreatic precursor cells0.00
    Maturity onset diabetes of the young0.61
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells0.00
    2L1CAM interactions
    Developmental Biology0.63
    3Type II diabetes mellitus
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    4Selected targets of HNF1
    Selected targets of HNF1


    Find genes that share SuperPaths with HNF1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HNF1B (see all 8)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    MODY (Maturity-Onset Diabetes of Young)
    Human Embryonic Stem Cell Pluripotency

    2 Reactome Pathways for HNF1B
        Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
    Regulation of gene expression in early pancreatic 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including HNF1B: 
              Primary Cilia in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HNF1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for HNF1B (P356803 ENSP000002258934) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001714endodermal cell fate specification IEA--
    GO:0001822kidney development IMP10720943
    GO:0001826inner cell mass cell differentiation IEA--
    GO:0001889liver development ----

    Find genes that share ontologies with HNF1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HNF1B

    9 Novoseek inferred 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)



    Find genes that share compounds with HNF1B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HNF1B gene (3 alternative transcripts): 
    NM_000458.2  NM_001165923.2  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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    Selected qRT-PCR 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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    Addgene plasmids for HNF1B 
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 47):

    BM821671 BF109358 AA862507 CR536572 BX950911 BG822302 BT007126 AI628435 
    AI337567 BM751822 AI051541 BM756759 AA904923 AU129722 BE870952 BI762215 
    AU129622 AW190750 X58840 AI240559 BM747027 BC017714 BG164418 NM_000458 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HNF1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGCTTCCT
    HNF1B Expression
    About this image


    HNF1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 7 entries
             Duct Cells Pancreatic Ducts
             Islets of Langerhans
             Pancreatic endoderm/endocrine precursor-like cells
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
             mK4
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 7 entries
             Pre-Pancreatic Foregut Endoderm Cells Prepancreatic Ventral Foregut Endoderm
             Foregut
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Posterior foregut-like cells
    HNF1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HNF1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.191144
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HNF1B: 
              Primary Cilia in human mouse rat
              Diabetes in human mouse rat

    Primer
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HNF1B gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hnf1b1 , 5 HNF1 homeobox B1, 5 92.04(n)1
    96.41(a)1
      11 (51.23 cM)5
    214101  NM_009330.21  NP_033356.21 
     838500635 
    chicken
    (Gallus gallus)
    Aves HNF1B1 HNF1 homeobox B 82.55(n)
    87.36(a)
      427838  XM_004946759.1  XP_004946816.1 
    lizard
    (Anolis carolinensis)
    Reptilia HNF1B6
    HNF1 homeobox B
    82(a)
    1 ↔ 1
    GL343731.1(212613-264040)
    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)
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    Paralogs for HNF1B gene
    HNF1A2  
    3 SIMAP similar genes for HNF1B using alignment to 5 protein entries:     HNF1B_HUMAN (see all proteins):
    TCF2    HNF1A    HNF1alpha

    Find genes that share paralogs with HNF1B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HNF1B (see all 1401)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1130423131,2,,4
    C,FRenal cysts and diabetes syndrome (RCAD)4 --36107778(+) GTTGCC/TATGGT 4 S G mis12Minor allele frequency- T:0.00CSA NA 4550
    rs1444258301,2,,4
    C,FRenal cysts and diabetes syndrome (RCAD)4 --36141836(+) GTCGCC/AGGACA 4 /G /C mis12Minor allele frequency- A:0.00NA EU 5635
    VAR_0460184
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460182 S L mis40--------
    VAR_0460304
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460302 G D mis40--------
    VAR_0460254
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460252 R Q mis40--------
    VAR_0460124
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460122 S F mis40--------
    VAR_0460264
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460262 A T mis40--------
    VAR_0460314
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460312 R C mis40--------
    VAR_0460174
    Renal cysts and diabetes syndrome (RCAD)4--see VAR_0460172 Q E mis40--------
    VAR_0176654
    Diabetes mellitus, non-insulin-dependent (NIDDM)4--see VAR_0176652 S R mis40--------

    HapMap Linkage Disequilibrium report for HNF1B (36046434 - 36105237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HNF1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2715892CNV Deletion23290073
    nsv833431CNV Gain17160897
    dgv957e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HNF1B
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing HNF1B:
    Birth Defects
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 189907   
    OMIM disorders: 137920  125853  144700  
    UniProtKB/Swiss-Prot: HNF1B_HUMAN, P35680
  • Renal cysts and diabetes syndrome (RCAD) [MIM:137920]: 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. Affected individuals may also have
    abnormalities of the genital tract. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=Disease susceptibility may be associated with variations affecting the
    gene represented in this entry
  • Prostate cancer, hereditary, 11 (HPC11) [MIM:611955]: 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. Note=Disease susceptibility is associated with variations affecting the gene
    represented in this entry

  • Selected diseases for HNF1B (see all 30):    
    About MalaCards
    unilateral multicystic dysplastic kidney    clear cell adenocarcinoma    bilateral multicystic dysplastic kidney    maturity-onset diabetes of the young, type 5
    17q12 microdeletion syndrome    prostate cancer, progression and metastasis of    hypomagnesemia 2, renal    vulvar melanoma
    prune belly syndrome    kidney cancer    hypertension, insulin resistance-related    familial juvenile hyperuricemic nephropathy
    diabetes mellitus, noninsulin-dependent, 2    ovarian clear cell adenocarcinoma    diabetes mellitus, noninsulin-dependent, late onset    diabetes mellitus, type 2, susceptiblity to
    diabetes mellitus, noninsulin-dependent, association with    murcs association    horseshoe kidney    classic mayer-rokitansky-k??ster-hauser syndrome

    2 diseases from the University of Copenhagen DISEASES database for HNF1B:
    maturity-onset diabetes of the young     Diabetes mellitus

    Find genes that share disorders with HNF1B           About GenesLikeMe

    Selected Novoseek inferred 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)

    Genetic Association Database (GAD): HNF1B
    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)
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    PubMed articles for HNF1B gene, integrated from 10 sources (see all 312):
    (articles sorted by number of sources associating them with HNF1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 4, 9 Bellanne-Chantelot C.... Timsit J. (Diabetes 2005)
    2. 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. (Hum. Mol. Genet. 1999)
    3. 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, 4, 9 Furuta H.... Nanjo K. (J. Clin. Endocrinol. Metab. 2002)
    4. Multiple newly identified loci associated with prostate cancer susceptibility. (PubMed id 18264097)1, 2, 4 Eeles R.A.... Easton D.F. (Nat. Genet. 2008)
    5. Two members of an HNF1 homeoprotein family are expressed in human liver. (PubMed id 1677179)1, 2, 3 Bach I.... Yaniv M. (Nucleic Acids Res. 1991)
    6. 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. (PubMed id 11668623)1, 4, 9 Ek J....Pedersen O. (Hum. Mutat. 2001)
    7. 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. (Kidney Int. 2002)
    8. Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population. (PubMed id 19168595)1, 4, 9 Wang C....Jia W. (Diabetes 2009)
    9. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. (PubMed id 19389850)1, 4, 9 Adalat S....Bockenhauer D. (J. Am. Soc. Nephrol. 2009)
    10. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. (PubMed id 15068978)1, 2, 9 Bellanne-Chantelot C.... Timsit J. (Ann. Intern. Med. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6928 HGNC: 11630 AceView: TCF2 Ensembl:ENSG00000108753 euGenes: HUgn6928
    ECgene: HNF1B Kegg: 6928 H-InvDB: HNF1B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HNF1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HNF1B[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HNF1B gene:
    Search GeneIP for patents involving HNF1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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