Gene: LOC105371754

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1057519371 in LOC105371754;HNF1B gene and Cystic renal dysplasia PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs7209295 in LOC105371754;HNF1B gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11649743 in LOC105371754;HNF1B gene and Prostate carcinoma PMID 31562322 2019 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.

PMID 26034056 2015 A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.

rs1057519371 in LOC105371754;HNF1B gene and Renal cysts and diabetes syndrome PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs7209295 in LOC105371754;HNF1B gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.