Gene: MIR6863
Alternate names for this Gene: hsa-mir-6863
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: 16
Location in Chromosome : 16q13
Description of this Gene: microRNA 6863
Type of Gene: ncRNA
Gene: SLC12A3
Alternate names for this Gene: NCC|NCCT|TSC
Gene Summary: This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 16
Location in Chromosome : 16q13
Description of this Gene: solute carrier family 12 member 3
Type of Gene: protein-coding
rs201721269 in
MIR6863;SLC12A3 gene and
Gitelman Syndrome
PMID 15069170 2004 Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
PMID 15687331 2005 Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
PMID 10988270 2000 Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
PMID 12008755 2002 Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
PMID 12112667 2002 Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
PMID 9734597 1998 Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
PMID 17654016 2007 Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
PMID 22009145 2012 Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
PMID 8954067 1996 Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome.
PMID 11940055 2002 Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
PMID 17873326 2007 Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
PMID 8900229 1996 Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
PMID 8528245 1996 Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
PMID 26099046 2015 Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
PMID 11168953 2001 Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
PMID 10616841 2000 Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
PMID 16429844 2006 A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.
PMID 21415153 2011 Spectrum of mutations in Gitelman syndrome.
rs12446689 in
MIR6863;SLC12A3 gene and
High density lipoprotein measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
rs12446689 in
MIR6863;SLC12A3 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.