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Aliases for HNF1B Gene

Aliases for HNF1B Gene

  • HNF1 Homeobox B 2 3 5
  • Homeoprotein LFB3 3 4
  • HNF-1-Beta 3 4
  • HNF-1B 3 4
  • VHNF1 3 4
  • TCF-2 3 4
  • TCF2 3 4
  • Transcription Factor 2, Hepatic; LF-B3; Variant Hepatic Nuclear Factor 2
  • Variant Hepatic Nuclear Factor 1 4
  • Transcription Factor 2, Hepatic 3
  • Transcription Factor 2 4
  • HNF1 Beta A 3
  • HNF1beta 3
  • HPC11 3
  • LF-B3 3
  • MODY5 3
  • FJHN 3
  • HNF2 3
  • LFB3 3

External Ids for HNF1B Gene

Previous HGNC Symbols for HNF1B Gene

  • TCF2

Previous GeneCards Identifiers for HNF1B Gene

  • GC17M033121
  • GC17M036046
  • GC17M031984

Summaries for HNF1B Gene

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 renal cysts and diabetes syndrome and diabetes mellitus, noninsulin-dependent. Among its related pathways are Regulation of beta-cell development and Type II diabetes mellitus. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is HNF1A.

UniProtKB/Swiss-Prot for HNF1B Gene

  • Transcription factor, probably binds to the inverted palindrome 5-GTTAATNATTAAC-3.

Gene Wiki entry for HNF1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNF1B Gene

Genomics for HNF1B Gene

Regulatory Elements for HNF1B Gene

Enhancers for HNF1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HNF1B on UCSC Golden Path with GeneCards custom track

Promoters for HNF1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HNF1B on UCSC Golden Path with GeneCards custom track

Genomic Location for HNF1B Gene

Chromosome:
17
Start:
37,686,431 bp from pter
End:
37,745,247 bp from pter
Size:
58,817 bases
Orientation:
Minus strand

Genomic View for HNF1B Gene

Genes around HNF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNF1B Gene

Proteins for HNF1B Gene

  • Protein details for HNF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35680-HNF1B_HUMAN
    Recommended name:
    Hepatocyte nuclear factor 1-beta
    Protein Accession:
    P35680
    Secondary Accessions:
    • B4DKM3
    • E0YMJ9

    Protein attributes for HNF1B Gene

    Size:
    557 amino acids
    Molecular mass:
    61324 Da
    Quaternary structure:
    • Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.

    Three dimensional structures from OCA and Proteopedia for HNF1B Gene

    Alternative splice isoforms for HNF1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HNF1B Gene

Proteomics data for HNF1B Gene at MOPED

Post-translational modifications for HNF1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for HNF1B (TCF-2/HNF-1 beta)

No data available for DME Specific Peptides for HNF1B Gene

Domains & Families for HNF1B Gene

Gene Families for HNF1B Gene

Graphical View of Domain Structure for InterPro Entry

P35680

UniProtKB/Swiss-Prot:

HNF1B_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the HNF1 homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the HNF1 homeobox family.
genes like me logo Genes that share domains with HNF1B: view

Function for HNF1B Gene

Molecular function for HNF1B Gene

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

Gene Ontology (GO) - Molecular Function for HNF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IEA --
genes like me logo Genes that share ontologies with HNF1B: view
genes like me logo Genes that share phenotypes with HNF1B: view

Human Phenotype Ontology for HNF1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HNF1B Gene

MGI Knock Outs for HNF1B:

Animal Model Products

miRNA for HNF1B Gene

miRTarBase miRNAs that target HNF1B

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HNF1B Gene

Localization for HNF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNF1B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HNF1B Gene COMPARTMENTS Subcellular localization image for HNF1B gene
Compartment Confidence
nucleus 5
cytoskeleton 1
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for HNF1B Gene

Pathways & Interactions for HNF1B Gene

genes like me logo Genes that share pathways with HNF1B: view

Interacting Proteins for HNF1B Gene

Selected Interacting proteins: P35680-HNF1B_HUMAN for HNF1B Gene via I2D

Gene Ontology (GO) - Biological Process for HNF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001826 inner cell mass cell differentiation IEA --
GO:0001889 liver development IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0009743 response to carbohydrate IEA --
genes like me logo Genes that share ontologies with HNF1B: view

No data available for SIGNOR curated interactions for HNF1B Gene

Drugs & Compounds for HNF1B Gene

(5) Drugs for HNF1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for HNF1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HNF1B: view

Transcripts for HNF1B Gene

Unigene Clusters for HNF1B Gene

HNF1 homeobox B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HNF1B Gene

No ASD Table

Relevant External Links for HNF1B Gene

GeneLoc Exon Structure for
HNF1B
ECgene alternative splicing isoforms for
HNF1B

Expression for HNF1B Gene

mRNA expression in normal human tissues for HNF1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HNF1B Gene

This gene is overexpressed in Kidney - Cortex (x20.1), Pancreas (x8.8), and Colon - Transverse (x4.0).

Protein differential expression in normal tissues from HIPED for HNF1B Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for HNF1B Gene



SOURCE GeneReport for Unigene cluster for HNF1B Gene Hs.191144

genes like me logo Genes that share expression patterns with HNF1B: view

Protein tissue co-expression partners for HNF1B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for HNF1B Gene

Orthologs for HNF1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNF1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HNF1B 35
  • 94.37 (n)
  • 97.49 (a)
dog
(Canis familiaris)
Mammalia LOC610402 35
  • 94.31 (n)
  • 98.03 (a)
mouse
(Mus musculus)
Mammalia Hnf1b 35
  • 92.04 (n)
  • 96.41 (a)
Hnf1b 16
chimpanzee
(Pan troglodytes)
Mammalia HNF1B 35
  • 99.4 (n)
  • 99.46 (a)
rat
(Rattus norvegicus)
Mammalia Hnf1b 35
  • 92.04 (n)
  • 97.13 (a)
chicken
(Gallus gallus)
Aves HNF1B 35
  • 82.55 (n)
  • 87.36 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf1b 35
  • 77.44 (n)
  • 88.27 (a)
African clawed frog
(Xenopus laevis)
Amphibia tcf2-prov 35
zebrafish
(Danio rerio)
Actinopterygii hnf1ba 35
  • 74.89 (n)
  • 83.36 (a)
tcf2 35
Species with no ortholog for HNF1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HNF1B Gene

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

Paralogs for HNF1B Gene

Paralogs for HNF1B Gene

(3) SIMAP similar genes for HNF1B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with HNF1B: view

Variants for HNF1B Gene

Sequence variations from dbSNP and Humsavar for HNF1B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_012058 -
VAR_017665 Diabetes mellitus, non-insulin-dependent (NIDDM)
VAR_046012 Renal cysts and diabetes syndrome (RCAD)
VAR_046013 Renal cysts and diabetes syndrome (RCAD)
rs144425830 Renal cysts and diabetes syndrome (RCAD) 37,744,659(+) GTCGC(A/C)GGACA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HNF1B Gene

Variant ID Type Subtype PubMed ID
nsv833431 CNV Gain 17160897
dgv957e1 CNV Complex 17122850
esv2715892 CNV Deletion 23290073

Variation tolerance for HNF1B Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HNF1B Gene

HapMap Linkage Disequilibrium report
HNF1B
Human Gene Mutation Database (HGMD)
HNF1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNF1B Gene

Disorders for HNF1B Gene

MalaCards: The human disease database

(37) MalaCards diseases for HNF1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal cysts and diabetes syndrome
  • maturity-onset diabetes of the young, type 5
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
hyperuricemic nephropathy, familial juvenile 1
  • familial juvenile hyperuricemic nephropathy
unilateral multicystic dysplastic kidney
  • unilateral mcdk
bilateral multicystic dysplastic kidney
  • multicystic renal dysplasia, bilateral
- elite association - COSMIC cancer census association via MalaCards
Search HNF1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HNF1B_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys 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. {ECO:0000269 PubMed:12161522}. 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. {ECO:0000269 PubMed:18264097}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10484768, ECO:0000269 PubMed:10672455, ECO:0000269 PubMed:11845238, ECO:0000269 PubMed:11918730, ECO:0000269 PubMed:14583183, ECO:0000269 PubMed:15001636, ECO:0000269 PubMed:15068978, ECO:0000269 PubMed:15181075, ECO:0000269 PubMed:15930087, ECO:0000269 PubMed:16249435}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HNF1B

Genetic Association Database (GAD)
HNF1B
Human Genome Epidemiology (HuGE) Navigator
HNF1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HNF1B
genes like me logo Genes that share disorders with HNF1B: view

No data available for Genatlas for HNF1B Gene

Publications for HNF1B Gene

  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. (PMID: 16249435) Bellanne-Chantelot C. … Timsit J. (Diabetes 2005) 3 4 23 48 67
  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. (PMID: 10484768) Lindner T.H. … Soevik O. (Hum. Mol. Genet. 1999) 2 3 23
  3. HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. (PMID: 20155289) Nakayama M. … Iijima K. (Pediatr. Nephrol. 2010) 3 23
  4. [Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. (PMID: 19361964) Ulinski T. … Lescure S. (Arch Pediatr 2009) 3 23
  5. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. (PMID: 19389850) Adalat S. … Bockenhauer D. (J. Am. Soc. Nephrol. 2009) 3 23

Products for HNF1B Gene

Sources for HNF1B Gene

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