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Aliases for HNF1B Gene

Aliases for HNF1B Gene

  • HNF1 Homeobox B 2 3
  • TCF2 3 4 6
  • Homeoprotein LFB3 3 4
  • HNF-1-Beta 3 4
  • HNF-1B 3 4
  • VHNF1 3 4
  • HPC11 3 6
  • MODY5 3 6
  • TCF-2 3 4
  • FJHN 3 6
  • HNF2 3 6
  • Transcription Factor 2, Hepatic; LF-B3; Variant Hepatic Nuclear Factor 2
  • Hepatocyte Nuclear Factor 1-Beta 3
  • Variant Hepatic Nuclear Factor 1 4
  • Transcription Factor 2, Hepatic 3
  • Transcription Factor 2 4
  • HNF1 Beta A 3
  • HNF1beta 3
  • LF-B3 3
  • LFB3 3

External Ids for HNF1B Gene

Previous Symbols for HNF1B Gene

  • TCF2

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 clear cell adenocarcinoma. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding.

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

Genomic Location for HNF1B Gene

37,686,431 bp from pter
37,745,247 bp from pter
58,817 bases
Minus strand

Genomic View for HNF1B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HNF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNF1B Gene

Regulatory Elements for HNF1B Gene

Proteins for HNF1B Gene

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

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

    Protein attributes for HNF1B Gene

    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


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

Other Protein References for HNF1B Gene

No data available for DME Specific Peptides for HNF1B Gene

Domains for HNF1B Gene

Gene Families for HNF1B Gene

  • HNF :Homeoboxes / HNF class


  • Contains 1 homeobox DNA-binding domain.:
    • P35680
  • Belongs to the HNF1 homeobox family.:
    • P35680
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: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 15509593
GO:0042803 protein homodimerization activity IPI 1677179
genes like me logo Genes that share ontologies with HNF1B: view
genes like me logo Genes that share phenotypes with HNF1B: view

Animal Models for HNF1B Gene

MGI Knock Outs for HNF1B:

miRNA for HNF1B Gene

miRTarBase miRNAs that target HNF1B

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

Localization for HNF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNF1B Gene

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for HNF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15355349
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with HNF1B: view

Pathways 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:0001714 endodermal cell fate specification IEA --
GO:0001822 kidney development IMP 10720943
GO:0001826 inner cell mass cell differentiation IEA --
GO:0001889 liver development --
genes like me logo Genes that share ontologies with HNF1B: view

Compounds for HNF1B Gene

(9) Novoseek inferred chemical compound relationships for HNF1B Gene

Compound -log(P) Hits PubMed IDs
nnmt 65.9 7
glucose 19.8 22
oligonucleotide 14.5 1
uric acid 13 5
nicotinamide 12.7 2
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
ECgene alternative splicing isoforms for

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 (20.1), Pancreas (8.8), and Colon - Transverse (4.0).

Integrated Proteomics: protein expression 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 expressions with HNF1B: view

Orthologs for HNF1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNF1B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HNF1B 36
  • 99.4 (n)
  • 99.46 (a)
(Bos Taurus)
Mammalia HNF1B 36
  • 94.37 (n)
  • 97.49 (a)
(Canis familiaris)
Mammalia LOC610402 36
  • 94.31 (n)
  • 98.03 (a)
(Mus musculus)
Mammalia Hnf1b 36
  • 92.04 (n)
  • 96.41 (a)
Hnf1b 16
(Rattus norvegicus)
Mammalia Hnf1b 36
  • 92.04 (n)
  • 97.13 (a)
(Gallus gallus)
Aves HNF1B 36
  • 82.55 (n)
  • 87.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia tcf2-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf1b 36
  • 77.44 (n)
  • 88.27 (a)
(Danio rerio)
Actinopterygii hnf1ba 36
  • 74.89 (n)
  • 83.36 (a)
tcf2 36
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

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

Paralogs for HNF1B Gene

Selected SIMAP similar genes for HNF1B Gene using alignment to 5 proteins:

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

No data available for Paralogs for HNF1B Gene

Variants for HNF1B Gene

Sequence variations from dbSNP and Humsavar for HNF1B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs2688 -- 37,686,928(-) TCCCA(A/C)ATGAT utr-variant-3-prime
rs2689 -- 37,687,098(-) GAACC(A/T)CCGAA utr-variant-3-prime
rs10962 -- 37,686,448(-) TAAAA(C/G)AATTT utr-variant-3-prime
rs718960 -- 37,717,281(-) CAGCC(A/G)GAGGA intron-variant
rs718961 -- 37,717,101(-) CACTT(C/T)CCTCA intron-variant

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

Relevant External Links for HNF1B Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for HNF1B Gene

(3) OMIM Diseases for HNF1B Gene (189907)


  • 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.
  • 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for HNF1B Gene

(48) Novoseek inferred disease relationships for HNF1B Gene

Disease -log(P) Hits PubMed IDs
pancreas atrophy 91.8 1
renal cyst 85.5 24
niddm 79.3 44
cystic kidney disease 70 4
renal dysplasia 69.9 2

Relevant External Links for HNF1B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with HNF1B: view

Publications for HNF1B Gene

  1. 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 4 23
  2. Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese. (PMID: 12161522) Furuta H. … Nanjo K. (J. Clin. Endocrinol. Metab. 2002) 3 4 23 49
  3. 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 49
  4. Genetic variants of hepatocyte nuclear factor-1beta in Chinese young- onset diabetic patients with nephropathy. (PMID: 14583183) So W.Y. … Chan J.C.N. (J. Diabetes Complications 2003) 3 4 23
  5. Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations. (PMID: 15068978) Bellanne-Chantelot C. … Timsit J. (Ann. Intern. Med. 2004) 3 4 23

Products for HNF1B Gene

  • Addgene plasmids for HNF1B

Sources for HNF1B Gene

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