Human Gene HNF1B (ENST00000617811.5_11) from GENCODE V47lift37
  Description: HNF1 homeobox B, transcript variant 1 (from RefSeq NM_000458.4)
Gencode Transcript: ENST00000617811.5_11
Gencode Gene: ENSG00000275410.6_13
Transcript (Including UTRs)
   Position: hg19 chr17:36,046,434-36,105,050 Size: 58,617 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr17:36,047,375-36,104,875 Size: 57,501 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:36,046,434-36,105,050)mRNA (may differ from genome)Protein (557 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q6FHW6_HUMAN
DESCRIPTION: SubName: Full=TCF2 protein; SubName: Full=Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor; SubName: Full=Transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor, isoform CRA_b; SubName: Full=cDNA FLJ76233, highly similar to Homo sapiens transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2), transcript variant a, mRNA;
SUBCELLULAR LOCATION: Nucleus (By similarity).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HNF1B
Diseases sorted by gene-association score: renal cysts and diabetes syndrome* (1703), diabetes mellitus, noninsulin-dependent* (544), unilateral multicystic dysplastic kidney* (350), chromophobe renal cell carcinoma* (300), hypomagnesemia 2, renal* (247), bilateral multicystic dysplastic kidney* (247), renal cell carcinoma* (231), prostate cancer, hereditary, 11* (69), chromosome 17q12 deletion syndrome* (24), horseshoe kidney (20), cystic kidney disease (19), ovarian clear cell carcinoma (18), hyperuricemic nephropathy, familial juvenile 1 (17), ovarian clear cell adenocarcinoma (17), maturity-onset diabetes of the young (13), clear cell adenocarcinoma (12), prune belly syndrome (10), neonatal diabetes mellitus (10), polycystic kidney disease 4, with or without hepatic disease (10), renal hypodysplasia (9), endometriosis of ovary (9), duodenal atresia (9), uterine disease (9), krukenberg carcinoma (9), renal dysplasia (8), blepharophimosis, epicanthus inversus, and ptosis, type 1 (8), prostate cancer* (8), renal glucosuria (7), hermansky-pudlak syndrome 5 (7), malignant ovarian surface epithelial-stromal neoplasm (7), ovary epithelial cancer (7), prostate cancer susceptibility (6), monogenic diabetes (6), mayer-rokitansky-kuster-hauser syndrome (6), polycystic liver disease 1 (6), endometriosis (4), ovarian cancer, somatic (3), autosomal dominant polycystic kidney disease (3), diabetes mellitus, insulin-dependent (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.10175-0.366 Picture PostScript Text
3' UTR -255.70941-0.272 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006899 - HNF-1_N
IPR023219 - HNF1_dimer_dom
IPR006897 - HNF1b_C
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR010982 - Lambda_DNA-bd_dom

Pfam Domains:
PF04812 - Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus
PF04814 - Hepatocyte nuclear factor 1 (HNF-1), N terminus

SCOP Domains:
100957 - Dimerization cofactor of HNF-1 alpha
47413 - lambda repressor-like DNA-binding domains
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q6FHW6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0044877 macromolecular complex binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001714 endodermal cell fate specification
GO:0001822 kidney development
GO:0001826 inner cell mass cell differentiation
GO:0001889 liver development
GO:0007219 Notch signaling pathway
GO:0007492 endoderm development
GO:0009743 response to carbohydrate
GO:0009749 response to glucose
GO:0009952 anterior/posterior pattern specification
GO:0010628 positive regulation of gene expression
GO:0014070 response to organic cyclic compound
GO:0030073 insulin secretion
GO:0030111 regulation of Wnt signaling pathway
GO:0030902 hindbrain development
GO:0032922 circadian regulation of gene expression
GO:0042493 response to drug
GO:0042663 regulation of endodermal cell fate specification
GO:0043066 negative regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048557 embryonic digestive tract morphogenesis
GO:0048598 embryonic morphogenesis
GO:0048754 branching morphogenesis of an epithelial tube
GO:0050673 epithelial cell proliferation
GO:0060429 epithelium development
GO:0060677 ureteric bud elongation
GO:0060993 kidney morphogenesis
GO:0061017 hepatoblast differentiation
GO:0061296 negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis
GO:0065004 protein-DNA complex assembly
GO:0070365 hepatocyte differentiation
GO:0072095 regulation of branch elongation involved in ureteric bud branching
GO:0072164 mesonephric tubule development
GO:0072176 nephric duct development
GO:0072177 mesonephric duct development
GO:0072179 nephric duct formation
GO:0072181 mesonephric duct formation
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC017714 - Homo sapiens HNF1 homeobox B, mRNA (cDNA clone MGC:21262 IMAGE:4414015), complete cds.
X58840 - Human mRNA for variant hepatic nuclear factor 1 (vHNF1).
JD551050 - Sequence 532074 from Patent EP1572962.
JD396754 - Sequence 377778 from Patent EP1572962.
JD372187 - Sequence 353211 from Patent EP1572962.
JD243748 - Sequence 224772 from Patent EP1572962.
JD053071 - Sequence 34095 from Patent EP1572962.
JD525882 - Sequence 506906 from Patent EP1572962.
JD385084 - Sequence 366108 from Patent EP1572962.
JD411476 - Sequence 392500 from Patent EP1572962.
JD410839 - Sequence 391863 from Patent EP1572962.
JD153509 - Sequence 134533 from Patent EP1572962.
JD284828 - Sequence 265852 from Patent EP1572962.
JD256165 - Sequence 237189 from Patent EP1572962.
AK296633 - Homo sapiens cDNA FLJ58175 complete cds, highly similar to Hepatocyte nuclear factor 1-beta.
HM116553 - Homo sapiens HNF1 beta A splice variant 1 (HNF1B) mRNA, complete cds, alternatively spliced.
HM116554 - Homo sapiens HNF1 beta A splice variant 2 (HNF1B) mRNA, complete cds, alternatively spliced.
HM116555 - Homo sapiens HNF1 beta A splice variant 3 (HNF1B) mRNA, complete cds, alternatively spliced.
HM116556 - Homo sapiens HNF1 beta A splice variant 4 (HNF1B) mRNA, complete cds, alternatively spliced.
JD114743 - Sequence 95767 from Patent EP1572962.
AK290131 - Homo sapiens cDNA FLJ76233 complete cds, highly similar to Homo sapiens transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2), transcript variant a, mRNA.
AK298393 - Homo sapiens cDNA FLJ53849 complete cds, highly similar to Hepatocyte nuclear factor 1-beta.
JD361481 - Sequence 342505 from Patent EP1572962.
JD254218 - Sequence 235242 from Patent EP1572962.
CR536572 - Homo sapiens full open reading frame cDNA clone RZPDo834H0922D for gene TCF2, transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor; complete cds, incl. stopcodon.
BT007126 - Homo sapiens transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor mRNA, complete cds.
DQ891528 - Synthetic construct clone IMAGE:100004158; FLH177743.01X; RZPDo839D07126D transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2) gene, encodes complete protein.
EU176615 - Synthetic construct Homo sapiens clone IMAGE:100011408; FLH177742.01L; RZPDo839G05254D transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor (TCF2) gene, encodes complete protein.
AB528419 - Synthetic construct DNA, clone: pF1KB7865, Homo sapiens HNF1B gene for HNF1 homeobox B, without stop codon, in Flexi system.
HV038799 - JP 2005073548-A/9: Use of HNF-1beta for diagnosis, therapy and screening of therapeutic drugs of ovarian clear cell carcinoma.
X71348 - Homo sapiens vHNF1-C mRNA.
LF212418 - JP 2014500723-A/19921: Polycomb-Associated Non-Coding RNAs.
JD121590 - Sequence 102614 from Patent EP1572962.
JD451762 - Sequence 432786 from Patent EP1572962.
JD526116 - Sequence 507140 from Patent EP1572962.
JD324987 - Sequence 306011 from Patent EP1572962.
JD416078 - Sequence 397102 from Patent EP1572962.
JD206021 - Sequence 187045 from Patent EP1572962.
MA447995 - JP 2018138019-A/19921: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000617811.1, ENST00000617811.2, ENST00000617811.3, ENST00000617811.4, hCG_27684 , NM_000458, Q6FHW6, Q6FHW6_HUMAN, TCF2 , uc327rhx.1, uc327rhx.2
UCSC ID: ENST00000617811.5_11
RefSeq Accession: NM_000458.4
Protein: Q6FHW6

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HNF1B:
dmn (Permanent Neonatal Diabetes Mellitus)
mdel17q12 (17q12 Recurrent Deletion Syndrome)
mody-ov (Maturity-Onset Diabetes of the Young Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.