Search for a gene
HNF1B - HNF1 homeobox B
- Synonym(s) : hepatocyte nuclear factor 1 beta, HNF1beta, HNF1ß, LFB3, MODY5, VHNF1
- Previous symbols and names : TCF2, transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor
- Type : gene with protein product
- Chromosomal location : 17q12
- OMIM: 189907
- HGNC: 11630
- UniProtKB: P35680
- Genatlas: HNF1B
- GenCC: HNF1B
- Ensembl: ENSG00000275410
- IUPHAR-DB: -
- Reactome: P35680
- LOVD: HNF1B
Diseases list
- Disease-causing germline mutation(s) in Bilateral multicystic dysplastic kidney
ORPHA:97364 
- Disease-causing germline mutation(s) in HNF1B-related autosomal dominant tubulointerstitial kidney disease
ORPHA:93111 - Disease-causing germline mutation(s) in Medullary sponge kidney
ORPHA:1309 - Disease-causing germline mutation(s) in Renal dysplasia, bilateral
ORPHA:93173 - Disease-causing germline mutation(s) in Renal dysplasia, unilateral
ORPHA:93172 - Disease-causing germline mutation(s) in Unilateral multicystic dysplastic kidney
ORPHA:97363 - Disease-causing germline mutation(s) (loss of function) in Mayer-Rokitansky-Küster-Hauser syndrome type 2
ORPHA:2578 - Role in the phenotype of 17q12 microdeletion syndrome
ORPHA:261265 - Major susceptibility factor in Familial prostate cancer
ORPHA:1331
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.