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Human Genome Organization

Nomenclature

Human Genome Organization

Nomenclature

The HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication.

For each known human gene we approve a gene name and symbol (short-form abbreviation), as well as a unique HGNC identifier (ID), which are stored in the HGNC database, www.genenames.org. This is a curated online repository of HGNC-approved gene nomenclature, gene groups and associated resources including links to genomic, proteomic and phenotypic information. Ideally, gene symbols are short, memorable and pronounceable, and most gene names are long-form descriptions of the symbol. Names should be brief and specific, and should convey something about the character or function of the gene products but not attempt to describe everything known. Each gene is assigned only one symbol; the HGNC does not routinely name isoforms (that is, alternate transcripts or splice variants). Ideally each symbol maintains parallel construction in different members of a gene family and can also be used in other species, especially across vertebrates. Our gene naming guidelines are discussed in Bruford et al., 2020.

Our sister project, the Vertebrate Gene Nomenclature Committee (VGNC, vertebrates.genenames.org), is responsible for assigning standardized names to genes in selected vertebrate species that currently lack a nomenclature committee. The VGNC aims to harmonize vertebrate gene nomenclature in line with human gene nomenclature, with orthologs being assigned the same nomenclature where possible, and also coordinates with the 5 existing vertebrate nomenclature committees for mouse, rat, chicken, Xenopus and zebrafish.

History
Problems of nomenclature in human genetics were recognised as early as the 1960s and in 1979 full guidelines for human gene nomenclature were presented at the Edinburgh Human Genome Meeting (HGM). Since then we have continued to strike a compromise between the convenience and simplicity required for the everyday use of human gene nomenclature and the need for adequate definition of the concepts involved. In 1989, the Nomenclature Committee was placed under the auspices of the newly founded Human Genome Organization (HUGO) and thus became the HUGO Gene Nomenclature Committee (HGNC)

The committee has grown from a single force (Dr Phyllis J. McAlpine) to a team of post-docs and bioinformaticians. For eleven years, from 1996-2007, the HGNC was chaired by Professor Sue Povey and based at University College London. In September 2007 the HGNC relocated to the European Bioinformatics Institute (EBI), and in 2018 became a joint project between the EBI and the University of Cambridge. We are a non-profit making body which is jointly funded by the US National Human Genome Research Institute (NHGRI) and the Wellcome Trust (UK).