Gene: HNF1B

Alternate names for this Gene: FJHN|HNF-1-beta|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF-2|TCF2|VHNF1

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: HNF1 homeobox B

Type of Gene: protein-coding

Gene: LOC105371754

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs17138478 in HNF1B;LOC105371754 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs12951345 in HNF1B;LOC105371754 gene and Pancreatic carcinoma PMID 30541042 2019 Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.

PMID 29422604 2018 Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium yields new genome-wide significant loci: rs13303010 at 1p36.33 (NOC2L, P = 8.36 × 10<sup>-14</sup>), rs2941471 at 8q21.11 (HNF4G, P = 6.60 × 10<sup>-10</sup>), rs4795218 at 17q12 (HNF1B, P = 1.32 × 10<sup>-8</sup>), and rs1517037 at 18q21.32 (GRP, P = 3.28 × 10<sup>-8</sup>). rs78417682 is not statistically significantly associated with pancreatic cancer in PANDoRA.

rs113042313 in HNF1B;LOC105371754 gene and Renal cysts and diabetes syndrome PMID 11845238 2002 Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.

PMID 10672455 2000 Hepatocyte nuclear factor-1 beta (MODY5) gene mutations in Scandinavian families with early-onset diabetes or kidney disease or both.

PMID 10484768 1999 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 15001636 2004 Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.

PMID 11918730 2002 Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

PMID 14583183 2004 Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy.

PMID 15181075 2004 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.

PMID 15930087 2006 Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

PMID 15068978 2004 Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

PMID 16249435 2005 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 19389850 2009 HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

PMID 11562418 2001 Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.

PMID 25700310 2015 A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

PMID 21380624 2011 HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

PMID 25536396 2015 HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.