Identity
HGNC
LOCATION
17q12
LOCUSID
ALIAS
ADTKD3,FJHN,HNF-1-beta,HNF-1B,HNF1beta,HNF2,HPC11,LF-B3,LFB3,MODY5,RCAD,T2D,TCF-2,TCF2,VHNF1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6928
MIM: 189907
HGNC: 11630
Ensembl: ENSG00000275410
Variants:
dbSNP: 6928
ClinVar: 6928
TCGA: ENSG00000275410
COSMIC: HNF1B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA150595617 | platinum | Chemical | MultilinkAnnotation | associated | 27561454 | ||
| PA24684 | AKT1 | Gene | Pathway | associated | |||
| PA450395 | metformin | Chemical | VariantAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37632214 | 2024 | Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. | 1 |
| 37737534 | 2024 | Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia. | 1 |
| 38216274 | 2024 | Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion. | 0 |
| 38788724 | 2024 | Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations. | 0 |
| 37632214 | 2024 | Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions. | 1 |
| 37737534 | 2024 | Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia. | 1 |
| 38216274 | 2024 | Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion. | 0 |
| 38788724 | 2024 | Human pluripotent stem cell-derived kidney organoids reveal tubular epithelial pathobiology of heterozygous HNF1B-associated dysplastic kidney malformations. | 0 |
| 36282544 | 2023 | Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. | 6 |
| 36511816 | 2023 | HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers. | 1 |
| 36520027 | 2023 | HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression. | 0 |
| 36522156 | 2023 | HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes. | 7 |
| 36672242 | 2023 | The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored. | 5 |
| 36282544 | 2023 | Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. | 6 |
| 36511816 | 2023 | HNF1B-driven three-dimensional chromatin structure for molecular classification in pancreatic cancers. | 1 |
Citation
Dessen P
HNF1B (HNF1 homeobox B)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/44558/hnf1b-(hnf1-homeobox-b)
