Guidelines for Human Gene Nomenclature

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

“…We recommend the use of gene symbol suffixes to describe additional transcripts and protein isoforms as follows: G6PD_v1 and G6PD_i1, in which the gene symbol is followed by the suffixes _v1 and _i1 to indicate the first transcript and its encoded protein isoform (provided their reference sequences are given or included in the annotation of a genomic reference sequence). This has already been implemented in the HGNC gene nomenclature guidelines [Wain et al, 2002] (see www.gene.ucl.ac.uk/nomenclature/ guidelines.html for the latest version). Other transcripts and isoforms can be described using increasing numbers.…”

The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

“…Elevated glucose levels in the liver lead to either gene transcriptional induction or post-translational activation of several key enzymes of glycolysis and lipogenesis, including fatty acid synthase, acetylCoA carboxylase and L-type pyruvate kinase (LPK) (1)(2)(3). The carbohydrate responsive element binding protein (ChREBP) transcription factor, the rat ortholog of Williams-Beuren syndrome critical region gene 14 [hereafter named WBSCR14 following recommendation of the HUGO Gene Nomenclature Committee (4)] is expressed under high-glucose diet and inhibited under high-fat diet in primary cultured hepatocytes. Its overexpression in these cells results in increased transcription of the LPK gene through direct binding of the carbohydrate response element (ChoRE) of the LPK promoter (5)(6)(7)(8)(9).…”

Guidelines for establishing locus specific databases

“…Some LSDBs may be themed on particular diseases or on genes that are related evolutionarily. Either way, it is important to use systematic gene names and symbols that are implemented and approved by the HUGO Gene Nomenclature Committee [Wain et al, 2002] (HGNC http://www.genenames.org/).…”