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Symbol HNF1B contributors: mct/npt/pgu - updated : 20-04-2010
HGNC name HNF1 homeobox B
HGNC id 11630
Corresponding disease
DEL17Q12 chromosome 17q12 microdeletion
MODY5 maturity onset diabetes of the young, type V
RCAD renal cysts and diabetes
Location 17q12      Physical location : 36.046.434 - 36.105.096
Synonym name
  • transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
  • hepatocyte nuclear factor, 1 beta
  • homeoprotein LFB3
  • Synonym symbol(s) LFB3, DMRG, HNF2, VHNF1, FJHN, TCF2, HNF1beta, HPC11
    TYPE functioning gene
    STRUCTURE 58.66 kb     9 Exon(s)
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 splicing 2842 61.32 557 liver 1991 1677179
  • stimulating transcriptional activation of target promoters
  • also called TCF2A
  • - splicing 2773 - 531 liver, pancreas 1991 1677179
  • inhibitting the transactivation activity of HNF1A
  • also called TCF2B
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
    Endocrinepancreasislet of Langerhans   
     parathyroid   highly
    Nervousbrain   lowly
    Reproductivemale systemprostate  lowly
    Urinarykidneynephronrenal capsule highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    at STAGE
    physiological period embryo, fetal
    Text kidney development, expression is common in mesonephric duct derivatives and metanephros (permanent kidneys)
  • N terminal dimerization motif
  • a pseudo POU-domain
  • an homeodomain and a transactivation domain
  • a C-terminal QSP-rich domain
  • mono polymer homomer , heteromer , dimer
    interspecies homolog to rattus Tcf2 (97.13 pc)
    homolog to murine Hnf1b (95.50 pc)
  • HNF1 homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    basic FUNCTION
  • activating or inhibiting transcription of target genes depending on the TCF2 isoform
  • having transcription factor activity, liver-specific
  • regulating peptidase dipeptidyl IV (DPP4) - down regulation in MODY5
  • is a transcription factor that plays a role in kidney and pancreas development
  • plays an important role in organogenesis, especially of the urogenital system
  • essential for transcription of sodium-dependent vitamin C transporter protein 1 (SVCT1)
  • may control gene expression via two distinct mechanisms, the maintenance of active transcription from its target promoters and the control of gene expression (concerns the reprogramming of transcription by counterbalancing the silencing effect induced by mitotic chromatin condensation)
  • bookmarking factor that is necessary for reopening the chromatin of target genes after mitotic silencing
  • playing an unique role in the regulation of cAMP signaling
  • novel role of HNF1B as a modifier of the PAX2 haplo-insufficient phenotype and these two transcription factors operate in common pathways governing both kidney morphogenesis and ureter differentiation
  • NUDT11, SLC22A3, HNF1b contribute to prostate cancer pathogenesis
  • transcription factor known to be involved in ureteric bud branching and initiation of nephrogenesis, has an additional role in segment fate acquisition
  • required for the acquisition of a proximo-intermediate segment fate, thus uncovering a previously unappreciated function of a novel regionalised S-shaped body (SSB) subcompartment in global nephron segmentation and further differentiation
  • CELLULAR PROCESS nucleotide, transcription, regulation
    a component
  • homodimerizing or heterodimerizing with HNF1A
    DNA binding to the inverted palindrome 5'-GTTAATNATTAAC-3'
    small molecule
  • inhibiting PKHD1, to produce kidney cysts
  • target of dipeptidyl peptidase 4 (DPP4), angiotensin converting enzyme 2 (ACE2) and osteopontin (SPP1)
  • interacting with SLC23A1(HNF-1alpha and/or HNF-1beta binding is required for its expression and may be involved in the coordinate regulation of whole body vitamin C status)
  • PDE4C is a potential HNF1B target gene (HNF1B directly regulates PDE4C gene transcription)
  • cell & other
    corresponding disease(s) RCAD , MODY5 , DEL17Q12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in chromophobe renal cell cancer through PKHD1 expression control
    tumoral     --over  
    in clear cell carcinoma of the ovary
    constitutional   deletion    
    leading to haploinsufficiency and affecting a diverse spectrum of CAKUT (congenital anomalies of the kidney and urinary tract)
    Susceptibility to prostate cancer
    Variant & Polymorphism SNP two independent prostate cancer risk loci
    Candidate gene
    Therapy target
  • heterozygous mice for Hnf1b and Pax2 null alleles display phenotypes similar to severe congenital anomalies of the kidney and the urinary tract (CAKUT), including strong hypoplasia of the kidneys, caudal ectopic aborted ureter buds, duplex kidneys, megaureters and hydronephrosis