Details for: HNF1B

Gene ID: 6928

Symbol: HNF1B

Ensembl ID: ENSG00000275410

Description: HNF1 homeobox B

Associated with

  • Developmental biology
    (R-HSA-1266738)
  • Nephron development
    (R-HSA-9831926)
  • Regulation of beta-cell development
    (R-HSA-186712)
  • Regulation of gene expression in early pancreatic precursor cells
    (R-HSA-210747)
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
    (R-HSA-210744)
  • Anterior/posterior pattern specification
    (GO:0009952)
  • Branching morphogenesis of an epithelial tube
    (GO:0048754)
  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dna binding
    (GO:0003677)
  • Embryonic digestive tract morphogenesis
    (GO:0048557)
  • Endocrine pancreas development
    (GO:0031018)
  • Endodermal cell fate specification
    (GO:0001714)
  • Epithelial cell proliferation
    (GO:0050673)
  • Genitalia development
    (GO:0048806)
  • Hepatoblast differentiation
    (GO:0061017)
  • Hindbrain development
    (GO:0030902)
  • Identical protein binding
    (GO:0042802)
  • Inner cell mass cell differentiation
    (GO:0001826)
  • Insulin secretion
    (GO:0030073)
  • Intracellular membrane-bounded organelle
    (GO:0043231)
  • Kidney development
    (GO:0001822)
  • Mesenchymal cell apoptotic process involved in metanephros development
    (GO:1900200)
  • Mesonephric duct formation
    (GO:0072181)
  • Negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis
    (GO:0061296)
  • Negative regulation of mesenchymal cell apoptotic process involved in metanephros development
    (GO:1900212)
  • Negative regulation of transcription by rna polymerase ii
    (GO:0000122)
  • Notch signaling pathway
    (GO:0007219)
  • Nucleoplasm
    (GO:0005654)
  • Nucleus
    (GO:0005634)
  • Pancreas development
    (GO:0031016)
  • Positive regulation of dna-templated transcription
    (GO:0045893)
  • Positive regulation of gene expression
    (GO:0010628)
  • Positive regulation of transcription initiation by rna polymerase ii
    (GO:0060261)
  • Pronephric nephron tubule development
    (GO:0039020)
  • Pronephros development
    (GO:0048793)
  • Protein binding
    (GO:0005515)
  • Protein homodimerization activity
    (GO:0042803)
  • Regulation of branch elongation involved in ureteric bud branching
    (GO:0072095)
  • Regulation of pronephros size
    (GO:0035565)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Regulation of wnt signaling pathway
    (GO:0030111)
  • Response to glucose
    (GO:0009749)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Transcription coregulator binding
    (GO:0001221)
  • Transcription regulator complex
    (GO:0005667)
  • Ureteric bud elongation
    (GO:0060677)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 14.6336
    Cell Significance Index: -5.9500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.7776
    Cell Significance Index: 46.1300
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 4.0743
    Cell Significance Index: 15.3500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 3.0245
    Cell Significance Index: 31.3100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.0568
    Cell Significance Index: -5.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.3974
    Cell Significance Index: 227.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.3198
    Cell Significance Index: 153.8100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.2129
    Cell Significance Index: 29.3800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1717
    Cell Significance Index: 60.8700
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 0.9977
    Cell Significance Index: 3.8200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.9970
    Cell Significance Index: 21.6000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.9807
    Cell Significance Index: 14.4800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8685
    Cell Significance Index: 52.1400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8348
    Cell Significance Index: 37.8400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.7682
    Cell Significance Index: 7.7500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.6784
    Cell Significance Index: 10.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5184
    Cell Significance Index: 14.9400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.4931
    Cell Significance Index: 50.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4780
    Cell Significance Index: 33.0600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4702
    Cell Significance Index: 46.5100
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.4411
    Cell Significance Index: 7.4300
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.4384
    Cell Significance Index: 4.1800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.4306
    Cell Significance Index: 3.9700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4231
    Cell Significance Index: 382.0600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3900
    Cell Significance Index: 9.0100
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.3639
    Cell Significance Index: 3.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3163
    Cell Significance Index: 57.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3028
    Cell Significance Index: 165.3500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.3004
    Cell Significance Index: 9.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2236
    Cell Significance Index: 42.5500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2098
    Cell Significance Index: 25.8000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.1904
    Cell Significance Index: 3.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1882
    Cell Significance Index: 32.1300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1658
    Cell Significance Index: 3.5300
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.1631
    Cell Significance Index: 0.5600
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.1304
    Cell Significance Index: 1.2900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1301
    Cell Significance Index: 3.5400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.1261
    Cell Significance Index: 1.7500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.1091
    Cell Significance Index: 1.8400
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.1018
    Cell Significance Index: 0.8100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0999
    Cell Significance Index: 19.8300
  • Cell Name: duodenum glandular cell (CL1001589)
    Fold Change: 0.0879
    Cell Significance Index: 0.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0862
    Cell Significance Index: 3.0300
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.0621
    Cell Significance Index: 0.6700
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.0538
    Cell Significance Index: 0.5800
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.0328
    Cell Significance Index: 0.3200
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.0293
    Cell Significance Index: 0.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0241
    Cell Significance Index: 17.6400
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.0233
    Cell Significance Index: 0.2100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0174
    Cell Significance Index: 0.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0107
    Cell Significance Index: 8.0900
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.0107
    Cell Significance Index: 0.0700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0065
    Cell Significance Index: 0.1000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0039
    Cell Significance Index: 0.5400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0005
    Cell Significance Index: 0.1700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0005
    Cell Significance Index: 0.1200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0004
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0003
    Cell Significance Index: 0.1900
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0000
    Cell Significance Index: 0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0003
    Cell Significance Index: -0.4800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0008
    Cell Significance Index: -1.5600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0011
    Cell Significance Index: -2.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0012
    Cell Significance Index: -1.6300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0015
    Cell Significance Index: -0.3100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0025
    Cell Significance Index: -0.1300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0032
    Cell Significance Index: -1.7900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0034
    Cell Significance Index: -0.3900
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0083
    Cell Significance Index: -0.3400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0095
    Cell Significance Index: -0.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0097
    Cell Significance Index: -0.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.2700
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0112
    Cell Significance Index: -0.3300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0116
    Cell Significance Index: -5.2500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0119
    Cell Significance Index: -0.1800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0182
    Cell Significance Index: -5.2400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0238
    Cell Significance Index: -0.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0279
    Cell Significance Index: -2.2100
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.0281
    Cell Significance Index: -0.3100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0292
    Cell Significance Index: -0.5000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0293
    Cell Significance Index: -3.4600
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.0307
    Cell Significance Index: -0.2800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0331
    Cell Significance Index: -0.3600
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.0357
    Cell Significance Index: -0.3200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0381
    Cell Significance Index: -0.5700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0388
    Cell Significance Index: -0.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0393
    Cell Significance Index: -5.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0410
    Cell Significance Index: -3.1500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0421
    Cell Significance Index: -0.4800
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0442
    Cell Significance Index: -0.5800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0478
    Cell Significance Index: -2.9300
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.0479
    Cell Significance Index: -0.4100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0485
    Cell Significance Index: -5.0500
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0559
    Cell Significance Index: -0.5900
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: -0.0613
    Cell Significance Index: -0.4800
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: -0.0668
    Cell Significance Index: -0.4700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0692
    Cell Significance Index: -1.1400
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.0695
    Cell Significance Index: -0.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0775
    Cell Significance Index: -4.3500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Transcriptional regulation**: HNF1B is a DNA-binding transcription factor that regulates gene expression by binding to specific DNA sequences, thereby modulating the transcription of target genes. 2. **Developmental expression**: HNF1B is significantly expressed in embryonic digestive tract morphogenesis, kidney development, and pancreas development, highlighting its role in organogenesis. 3. **Tissue specificity**: HNF1B is predominantly expressed in kidney proximal convoluted tubule epithelial cells, kidney loop of Henle thin descending limb epithelial cells, and pancreatic islet cells, indicating its tissue-specific function. **Pathways and Functions** 1. **Developmental biology**: HNF1B regulates the specification of endodermal cell fate, hepatoblast differentiation, and insulin secretion, which are essential for embryonic development and organogenesis. 2. **Gene expression regulation**: HNF1B modulates the transcription of target genes involved in various cellular processes, including cell proliferation, differentiation, and survival. 3. **Cellular signaling**: HNF1B interacts with other transcription factors and signaling pathways, such as Wnt signaling, to regulate cell behavior and organ development. 4. **Metabolic regulation**: HNF1B plays a critical role in regulating glucose metabolism, insulin secretion, and pancreatic beta-cell development, highlighting its importance in metabolic homeostasis. **Clinical Significance** 1. **Diabetes and metabolism**: Mutations in the HNF1B gene have been associated with maturity-onset diabetes of the young (MODY) type 3, a form of diabetes characterized by insulin deficiency. 2. **Kidney disease**: Abnormalities in HNF1B expression have been linked to kidney disease, including congenital anomalies of the kidney and urinary tract. 3. **Pancreatic development**: HNF1B mutations can lead to pancreatic agenesis or dysplasia, highlighting the importance of this transcription factor in pancreatic development. 4. **Cancer**: HNF1B has been implicated in the development of certain cancers, including pancreatic cancer, where it acts as a tumor suppressor. In conclusion, HNF1B is a critical transcription factor that regulates various developmental processes, including organogenesis, cell proliferation, and differentiation. Its dysregulation has been linked to several human diseases, including diabetes, kidney disease, and cancer. Further research is needed to elucidate the complex mechanisms of HNF1B function and its role in human disease.

Genular Protein ID: 1907723589

Symbol: HNF1B_HUMAN

Name: Hepatocyte nuclear factor 1-beta

UniProtKB Accession Codes:

P35680 B4DKM3 E0YMJ9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 16 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 42 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 9 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 3 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1677179

Title: Two members of an HNF1 homeoprotein family are expressed in human liver.

PubMed ID: 1677179

DOI: 10.1093/nar/19.13.3553

PubMed ID: 7900999

Title: More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing.

PubMed ID: 7900999

DOI: 10.1002/j.1460-2075.1993.tb06107.x

PubMed ID: 9398836

Title: Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

PubMed ID: 9398836

DOI: 10.1038/ng1297-384

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10484768

Title: 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.

PubMed ID: 10484768

DOI: 10.1093/hmg/8.11.2001

PubMed ID: 17924661

Title: Structural basis of disease-causing mutations in hepatocyte nuclear factor 1beta.

PubMed ID: 17924661

DOI: 10.1021/bi7010527

PubMed ID: 10672455

Title: Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PubMed ID: 10672455

DOI: 10.1007/s001250050018

PubMed ID: 11845238

Title: Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PubMed ID: 11845238

DOI: 10.1007/s125-002-8259-5

PubMed ID: 11918730

Title: Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PubMed ID: 11918730

DOI: 10.1046/j.1523-1755.2002.00272.x

PubMed ID: 12161522

Title: Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.

PubMed ID: 12161522

DOI: 10.1210/jcem.87.8.8776

PubMed ID: 14583183

Title: Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PubMed ID: 14583183

DOI: 10.1016/s1056-8727(02)00221-0

PubMed ID: 15068978

Title: Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PubMed ID: 15068978

DOI: 10.7326/0003-4819-140-7-200404060-00009

PubMed ID: 15001636

Title: Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.

PubMed ID: 15001636

DOI: 10.1210/jc.2003-031308

PubMed ID: 15181075

Title: Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.

PubMed ID: 15181075

DOI: 10.1210/jc.2003-031828

PubMed ID: 16249435

Title: 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.

PubMed ID: 16249435

DOI: 10.2337/diabetes.54.11.3126

PubMed ID: 15930087

Title: Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PubMed ID: 15930087

DOI: 10.1136/jmg.2005.032854

PubMed ID: 18264097

Title: Multiple newly identified loci associated with prostate cancer susceptibility.

PubMed ID: 18264097

DOI: 10.1038/ng.90

PubMed ID: 24204001

Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

PubMed ID: 24204001

DOI: 10.1681/asn.2013040337

Sequence Information:

  • Length: 557
  • Mass: 61324
  • Checksum: 9E1ECC7423B73980
  • Sequence:
    • MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP 
VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR 
AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL 
RQFNQTVQSS GNMTDKSSQD QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP 
ASQQILYQAY DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF 
ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV RYSQQGNNEI 
TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG KMISVSGGGL PPVSTLTNIH 
SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS 
PHQQPLMQQS PGSHMAQQPF MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI 
STLTNMSSSK QCPLQAW

Genular Protein ID: 4111974726

Symbol: A0A0C4DGS8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DGS8

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 3 GO 9 Gene3D 2 GeneTree 1 HGNC 1 InterPro 9 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMART 1 SUPFAM 3 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 457
  • Mass: 50348
  • Checksum: FBC45785EC737485
  • Sequence:
    • MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP 
VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR 
AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL 
RQFSQQSHGP GQSDDACSEP TNKKMRRNRF KWGPASQQIL YQAYDRQKNP SKEEREALVE 
ECNRAECLQR GVSPSKAHGL GSNLVTEVRV YNWFANRRKE EAFRQKLAMD AYSSNQTHSL 
NPLLSHGSPH HQPSSSPPNK LSGVRYSQQG NNEITSSSTI SHHGNSAMVT SQSVLQQVSP 
ASLDPGHNLL SPDGKMISVS GGGLPPVSTL TNIHSLSHHN PQQSQNLIMT PLSGVMAIAQ 
MSSTSLVMPT HHLLRAQQQG PCFPHHHPLG SCHGKAQ

Genular Protein ID: 2388696698

Symbol: E0YMJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

E0YMJ6

Database IDs:

ARBA 10 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 8 Gene3D 2 HOGENOM 1 InterPro 9 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 Pfam 2 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 3 VEuPathDB 1

Sequence Information:

  • Length: 531
  • Mass: 58379
  • Checksum: CEC69B827DD176D3
  • Sequence:
    • MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP GSGAEPDTKP 
VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT EEAAEQRAEV DRMLSEDPWR 
AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL SQHLNKGTPM KTQKRAALYT WYVRKQREIL 
RQFSQQSHGP GQSDDACSEP TNKKMRRNRF KWGPASQQIL YQAYDRQKNP SKEEREALVE 
ECNRAECLQR GVSPSKAHGL GSNLVTEVRV YNWFANRRKE EAFRQKLAMD AYSSNQTHSL 
NPLLSHGSPH HQPSSSPPNK LSGVRYSQQG NNEITSSSTI SHHGNSAMVT SQSVLQQVSP 
ASLDPGHNLL SPDGKMISVS GGGLPPVSTL TNIHSLSHHN PQQSQNLIMT PLSGVMAIAQ 
SLNTSQAQSV PVINSVAGSL AALQPVQFSQ QLHSPHQQPL MQQSPGSHMA QQPFMAAVTQ 
LQNSHMYAHK QEPPQYSHTS RFPSAMVVTD TSSISTLTNM SSSKQCPLQA W

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.