HUGO Gene Nomenclature Committee explained
HGNC |
Description: | HGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, RNA genes and pseudogenes, to allow unambiguous scientific communication. |
Scope: | Gene nomenclature |
Organism: | Human |
Center: | EMBL-EBI, UK; |
Citation: | Braschi et al. (2019)[1] |
Url: |
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Download: |
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Webapp: | ,[2] [3] |
Curation: | Yes |
The HUGO Gene Nomenclature Committee (HGNC) is a committee of the Human Genome Organisation (HUGO) that sets the standards for human gene nomenclature. The HGNC approves a unique and meaningful name for every known human gene,[4] [5] based on a query of experts. In addition to the name, which is usually 1 to 10 words long, the HGNC also assigns a symbol (a short group of characters) to every gene. As with an SI symbol, a gene symbol is like an abbreviation but is more than that, being a second unique name that can stand on its own just as much as substitute for the longer name. It may not necessarily "stand for" the initials of the name, although many gene symbols do reflect that origin.
Purpose
Full gene names, and especially gene abbreviations and symbols, are often not specific to a single gene. A marked example is CAP which can refer to any of 6 different genes (BRD4 , CAP1 , HACD1 , LNPEP , SERPINB6 , and SORBS1 ).
The HGNC short gene names, or gene symbols, unlike previously used or published symbols, are specifically assigned to one gene only. This can result in less common abbreviations being selected but reduces confusion as to which gene is referred to.
Naming guidelines
The HGNC published its latest human gene naming guidelines in 2020. These may be summarized as:[6]
- gene symbols must be unique
- symbols should only contain Latin letters and Arabic numerals
- symbols should not contain punctuation or "G" for gene
- symbols do not contain any reference to the species they are encoded in, i.e. "H/h" for human
The HGNC states that "gene nomenclature should evolve with new technology rather than be restrictive, as sometimes occurs when historical and single gene nomenclature systems are applied."[7] The HGNC has also issued guides to specific locus types such as endogenous retroviral loci,[8] structural variants[9] and non-coding RNAs.[10] [11] [12]
Naming procedure
When assigning new gene nomenclature the HGNC make efforts to contact authors who have published on the human gene in question by email, and their responses to the proposed nomenclature are requested. HGNC also coordinates with the related Mouse and Rat Genomic Nomenclature Committees, other database curators, and experts for given specific gene families or sets of genes.
Revision
The gene name revision procedure is similar to the naming procedure, but changing a standardized gene name after establishment of a consensus can create confusion, therefore the merit of this is controversial. For this reason the HGNC aims to change a gene name only if agreement for that change can be reached among a majority of researchers working on that gene.
See also
A complete list of all HGNC-approved gene symbols for protein-coding genes:
External links
Notes and References
- Braschi B, Denny P, Gray K, Jones T, Seal R, Tweedie S, Yates B, Bruford E . 6 . Genenames.org: the HGNC and VGNC resources in 2019 . Nucleic Acids Research . 47 . D1 . D786–D792 . January 2019 . 30304474 . 6324057 . 10.1093/nar/gky930 .
- Wright MW, Eyre TA, Lush MJ, Povey S, Bruford EA . HCOP: the HGNC comparison of orthology predictions search tool . Mammalian Genome . 16 . 11 . 827–8 . November 2005 . 16284797 . 10.1007/s00335-005-0103-2 . 1091618 .
- Eyre TA, Wright MW, Lush MJ, Bruford EA . HCOP: a searchable database of human orthology predictions . Briefings in Bioinformatics . 8 . 1 . 2–5 . January 2007 . 16951416 . 10.1093/bib/bbl030 .
- Web site: About the HGNC | HUGO Gene Nomenclature Committee . 2018-03-23 . 2023-03-26 . https://web.archive.org/web/20230326032945/https://www.genenames.org/about/overview . dead .
- Bruford . Elspeth A. . Braschi . Bryony . Denny . Paul . Jones . Tamsin E. M. . Seal . Ruth L. . Tweedie . Susan . Guidelines for human gene nomenclature . Nature Genetics . August 2020 . 52 . 8 . 754–758 . 10.1038/s41588-020-0669-3. 32747822 . 7494048 .
- Web site: HGNC Guidelines HUGO Gene Nomenclature Committee . www.genenames.org . 26 April 2021.
- Shows TB, McAlpine PJ, Boucheix C, Collins FS, Conneally PM, Frézal J, Gershowitz H, Goodfellow PN, Hall JG, Issitt P, Jones CA, Knowles BB, Lewis M, McKusick VA, Meisler M, Morton NE, Rubenstein P, Schanfield MS, Schmickel RD, Skolnick MH, Spence MA, Sutherland GR, Traver M, Van Cong N, Willard HF . 6 . Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987) . Cytogenetics and Cell Genetics . 46 . 1–4 . 11–28 . 1987 . 3507270 . 10.1159/000132471 . 7494048 .
- Mayer J, Blomberg J, Seal RL . A revised nomenclature for transcribed human endogenous retroviral loci . Mobile DNA . 2 . 1 . 7 . May 2011 . 21542922 . 3113919 . 10.1186/1759-8753-2-7 . free .
- Seal RL, Wright MW, Gray KA, Bruford EA . Vive la différence: naming structural variants in the human reference genome . Human Genomics . 7 . 12 . May 2013 . 1 . 23634723 . 3648363 . 10.1186/1479-7364-7-12 . free .
- Wright MW, Bruford EA . Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature . Human Genomics . 5 . 2 . 90–8 . January 2011 . 21296742 . 3051107 . 10.1186/1479-7364-5-2-90 . free .
- Wright MW . A short guide to long non-coding RNA gene nomenclature . Human Genomics . 8 . 1 . 7 . April 2014 . 24716852 . 4021045 . 10.1186/1479-7364-8-7 . free .
- Seal R, Chen L, Griffiths-Jones S, Lowe TM, Mathews MB, O'Reilly D, Pierce AJ, Stadler PF, Ulitsky I, Wolin SL, Bruford EA . A guide to naming human non-coding RNA genes . EMBO J . 39 . Feb 2020 . 6 . e103777 . 32090359 . 7073466 . 10.15252/embj.2019103777 .