HNF1B, Official Symbol HNF1Bprovided by HGNC Official Full Name HNF1 homeobox Bprovided by HGNC Primary source HGNC:HGNC:11630 See related Ensembl:ENSG00000275410 MIM:189907; AllianceGenome:HGNC:11630 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as T2D; FJHN; HNF2; LFB3; RCAD; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; ADTKD3; HNF-1B; HNF1beta; HNF-1-beta 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.[provided by RefSeq, Sep 2009] Expression Biased expression in kidney (RPKM 16.9), gall bladder (RPKM 7.3) and 11 other tissues See more Orthologs mouse all