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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
  • 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
  • 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 PAK Pathway and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information for HNF1B Gene

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

Genomics for HNF1B Gene

GeneHancer (GH) Regulatory Elements for HNF1B Gene

Promoters and enhancers for HNF1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I037740 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 564.3 +0.9 894 6.9 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A IRF4 ZNF48 YY1 ZNF207 HNF1B DDX52 ACACA LOC105371754
GH17I037707 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +34.3 34324 7.3 ATF1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 FOS LOC105371754 HNF1B MRPL45 HMGB1P24 ACACA
GH17I037642 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10.5 +101.8 101822 2.7 PKNOX1 SMAD1 ATF1 ZNF133 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B DDX52 ENSG00000277501 HNF1B
GH17I037702 Enhancer 1 FANTOM5 ENCODE dbSUPER 18.6 +42.5 42506 1.1 CTCF JUN SIN3A RAD21 SP1 ZFP69B JUND ZNF692 SMC3 FOSL2 HNF1B DDX52 LOC105371754 GC17P037657
GH17I037716 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.5 +27.8 27838 2.6 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF48 YY1 RXRA ZHX2 MXD4 HNF1B HMGB1P24 LOC105371754
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HNF1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HNF1B gene promoter:

Genomic Locations for HNF1B Gene

Genomic Locations for HNF1B Gene
chr17:37,686,431-37,745,247
(GRCh38/hg38)
Size:
58,817 bases
Orientation:
Minus strand
chr17:36,046,434-36,105,237
(GRCh37/hg19)

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

Post-translational modifications for HNF1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HNF1B Gene

Domains & Families for HNF1B Gene

Gene Families for HNF1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Graphical View of Domain Structure for InterPro Entry

P35680

UniProtKB/Swiss-Prot:

HNF1B_HUMAN :
  • Belongs to the HNF1 homeobox family.
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.

Phenotypes From GWAS Catalog for HNF1B Gene

Gene Ontology (GO) - Molecular Function for HNF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000987 proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IDA 16297991
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific 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

CRISPR Products

miRNA for HNF1B Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HNF1B

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNF1B gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNF1B Gene

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

Pathways & Interactions for HNF1B Gene

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

Interacting Proteins for HNF1B Gene

Gene Ontology (GO) - Biological Process for HNF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II 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 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

(6) Drugs for HNF1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HNF1B

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HNF1B Gene



Protein tissue co-expression partners for HNF1B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HNF1B Gene:

HNF1B

SOURCE GeneReport for Unigene cluster for HNF1B Gene:

Hs.191144

Evidence on tissue expression from TISSUES for HNF1B Gene

  • Intestine(4.6)
  • Liver(4.6)
  • Kidney(3.3)
  • Pancreas(3.1)
  • Gall bladder(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HNF1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • parathyroid
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HNF1B: view

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
chimpanzee
(Pan troglodytes)
Mammalia HNF1B 33
  • 99.4 (n)
cow
(Bos Taurus)
Mammalia HNF1B 33
  • 94.37 (n)
dog
(Canis familiaris)
Mammalia LOC610402 33
  • 94.31 (n)
mouse
(Mus musculus)
Mammalia Hnf1b 33 16
  • 92.04 (n)
rat
(Rattus norvegicus)
Mammalia Hnf1b 33
  • 92.04 (n)
chicken
(Gallus gallus)
Aves HNF1B 33
  • 82.55 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia hnf1b 33
  • 77.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia tcf2-prov 33
zebrafish
(Danio rerio)
Actinopterygii hnf1ba 33
  • 74.89 (n)
tcf2 33
Species where no ortholog for HNF1B was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1057519371 pathogenic, Familial hypoplastic, glomerulocystic kidney 37,710,577(-) GG/GGG coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs1058166 benign, Familial hypoplastic, glomerulocystic kidney 37,686,988(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10962 benign, Familial hypoplastic, glomerulocystic kidney 37,686,448(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs113042313 pathogenic, not provided, Renal cysts and diabetes syndrome (RCAD) [MIM:137920] 37,710,601(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121918671 pathogenic, Familial hypoplastic, glomerulocystic kidney 37,744,584(-) C/A/G coding_sequence_variant, missense_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv2715892 CNV deletion 23290073
esv2758688 CNV gain+loss 17122850
esv3640501 CNV gain 21293372
nsv833431 CNV gain 17160897
nsv953888 CNV deletion 24416366

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)

Additional Variant Information for HNF1B Gene

Human Gene Mutation Database (HGMD)
HNF1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNF1B

SNP Genotyping and Copy Number Assay Products

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

Disorders for HNF1B Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for HNF1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Bellanné-Chantelot C … Timsit J (Diabetes 2005) 3 4 22 44 58
  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 (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 44 58
  3. 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 TH … Sovik O (Human molecular genetics 1999) 2 3 4 22 58
  4. Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population. (PMID: 19168595) Wang C … Jia W (Diabetes 2009) 3 22 44 58
  5. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. (PMID: 19389850) Adalat S … Bockenhauer D (Journal of the American Society of Nephrology : JASN 2009) 3 22 44 58

Products for HNF1B Gene

  • Addgene plasmids for HNF1B

Sources for HNF1B Gene

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