Gene: MIR3646

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: microRNA 3646

Type of Gene: ncRNA

Gene: HNF4A

Alternate names for this Gene: FRTS4|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14

Gene Summary: The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.12

Description of this Gene: hepatocyte nuclear factor 4 alpha

Type of Gene: protein-coding

rs587777732 in MIR3646;HNF4A gene and FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG PMID 20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

PMID 27245055 2016 Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

PMID 25819479 2015 Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.

PMID 28693455 2017 Fainting Fanconi syndrome clarified by proxy: a case report.

PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

PMID 22802087 2012 Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

PMID 28458902 2017 Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

rs1385251852 in MIR3646;HNF4A gene and Hyperglycemia PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 16917892 2006 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

PMID 10592235 2000 The Protein Data Bank.

PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

rs1385251852 in MIR3646;HNF4A gene and Maturity-Onset Diabetes of the Young, Type 1 PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

PMID 10592235 2000 The Protein Data Bank.

PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.

PMID 16917892 2006 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

PMID 28458902 2017 Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.

PMID 27245055 2016 Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

PMID 20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.

PMID 24285859 2014 The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

PMID 28693455 2017 Fainting Fanconi syndrome clarified by proxy: a case report.

PMID 25819479 2015 Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction.