HNF1B
HNF1 Homeobox B
Gene Information Card
| Symbol | HNF1B |
|---|---|
| Full Name | HNF1 Homeobox B |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 6928 ncbi.nlm.nih.gov/gene/6928 |
| Ensembl ID | ENSG00000108753 |
| UniProt ID | P35680 |
| OMIM ID | 189907 |
| HGNC ID | 11630 |
| Aliases | TCF2, MODY5, HNF1beta, LFB3, VHNF1 |
Description
HNF1B encodes a homeodomain-containing transcription factor that regulates gene expression in the pancreas, kidney, liver, and genital tract. It is critical for embryonic development and organogenesis. Mutations in HNF1B cause maturity-onset diabetes of the young type 5 (MODY5) and renal cysts and diabetes syndrome (RCAD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maturity-onset diabetes of the young type 5 (MODY5) | Loss-of-function mutations impair pancreatic beta-cell development and insulin secretion | ClinVar, OMIM |
| Renal cysts and diabetes syndrome (RCAD) | Haploinsufficiency disrupts nephron development, leading to cystic kidney disease and diabetes | ClinVar, OMIM |
| Genital tract malformations | HNF1B deficiency alters Wolffian duct differentiation | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Pancreas | 8.3 | Medium |
| Liver | 6.1 | Low |
| Prostate | 4.2 | Low |
| Ovary | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| PANC-1 | 9.7 | Pancreatic ductal adenocarcinoma |
| HepG2 | 5.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544C>T (p.Arg182*) | Nonsense | Rare | Premature stop, loss of function |
| c.494G>A (p.Arg165His) | Missense | Rare | Impaired DNA binding |
| Whole gene deletion | Copy number loss | ~50% of HNF1B cases | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Most HNF1B mutations are loss-of-function, leading to haploinsufficiency or truncated protein.
Gain of Function (GOF)
Not reported for HNF1B.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • nucleus |
| • regulation of transcription by RNA polymerase II |
Pathways
• HNF1B transcription factor network
• Pancreatic beta-cell development
• Kidney development
Protein Summary
HNF1B is a 557-amino acid transcription factor containing a homeodomain and a POU-like domain. It forms homodimers or heterodimers with HNF1A to regulate target genes involved in glucose metabolism, cell differentiation, and organogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HNF1B Knockout HEK293 Cell Line | EDJ-KQ5896 | Human | 6928 | Details Get a Quote |
| HNF1B Knockout HCT 116 Cell Line | EDJ-KQ29399 | Human | 6928 | Details Get a Quote |
| HNF1B Knockout HeLa Cell Line | EDJ-KQ54625 | Human | 6928 | Details Get a Quote |
| HNF1B Knockout A-549 Cell Line | EDJ-KQ63106 | Human | 6928 | Details Get a Quote |
