HUGO Gene Nomenclature Committee

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.

HGNC
Content
DescriptionHGNC is responsible for approving unique symbols and names for human loci, including protein coding genes, RNA genes and pseudogenes, to allow unambiguous scientific communication.
Data types
captured		Gene nomenclature
OrganismsHuman
Contact
Research centerEMBL-EBI, UK;
Primary citationBraschi et al. (2019)[1]
Access
Websitewww.genenames.org
www.genenames.org/news
Download URLStatistics & Downloads
Custom Downloads
HGNC Biomart
Web service URLrest.genenames.org
Tools
WebHGNC Comparison of Orthology Predictions,[2][3] Search
Miscellaneous
Curation policyYes

Purpose

Especially gene abbreviations/symbols but also full gene names are often not specific for 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 summarises its approach to naming genes and assigning symbols (gene name abbreviations) as follows:

  1. gene symbols must be unique
  2. symbols should only contain Latin letters and Arabic numerals
  3. symbols should not contain punctuation or "G" for gene
  4. symbols do not contain any reference to the species they are encoded in, i.e. "H/h" for human

The full description of HGNC's nomenclature guidelines can be found on their web site . HGNC advocates the appendices _v1, _v2,.. to distinguish between different splice variants and _pr1, _pr2,.. for promoter variants of a single gene.

HGNC also 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."[6]

Comprehensive human gene naming guidelines were last published in 2020,[7] and 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 standardised gene name after establishment of a consensus can create confusion and the merit of this is therefore 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

References
  1. Braschi B, Denny P, Gray K, Jones T, Seal R, Tweedie S, et al. (January 2019). "Genenames.org: the HGNC and VGNC resources in 2019". Nucleic Acids Research. 47 (D1): D786–D792. doi:10.1093/nar/gky930. PMC 6324057. PMID 30304474.
  2. Wright MW, Eyre TA, Lush MJ, Povey S, Bruford EA (November 2005). "HCOP: the HGNC comparison of orthology predictions search tool". Mammalian Genome. 16 (11): 827–8. doi:10.1007/s00335-005-0103-2. PMID 16284797. S2CID 1091618.
  3. Eyre TA, Wright MW, Lush MJ, Bruford EA (January 2007). "HCOP: a searchable database of human orthology predictions". Briefings in Bioinformatics. 8 (1): 2–5. doi:10.1093/bib/bbl030. PMID 16951416.
  4. "About the HGNC | HUGO Gene Nomenclature Committee".
  5. Bruford, Elspeth A.; Braschi, Bryony; Denny, Paul; Jones, Tamsin E. M.; Seal, Ruth L.; Tweedie, Susan (August 2020). "Guidelines for human gene nomenclature". Nature Genetics. 52 (8): 754–758. doi:10.1038/s41588-020-0669-3. PMC 7494048. PMID 32747822.
  6. Shows TB, McAlpine PJ, Boucheix C, Collins FS, Conneally PM, Frézal J, et al. (1987). "Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987)" (PDF). Cytogenetics and Cell Genetics. 46 (1–4): 11–28. doi:10.1159/000132471. PMID 3507270.
  7. Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S (April 2002). "Guidelines for human gene nomenclature". Genomics. 79 (4): 464–70. doi:10.1006/geno.2002.6748. PMID 11944974.
  8. Mayer J, Blomberg J, Seal RL (May 2011). "A revised nomenclature for transcribed human endogenous retroviral loci". Mobile DNA. 2 (1): 7. doi:10.1186/1759-8753-2-7. PMC 3113919. PMID 21542922.
  9. Seal RL, Wright MW, Gray KA, Bruford EA (May 2013). "Vive la différence: naming structural variants in the human reference genome". Human Genomics. 7: 12. doi:10.1186/1479-7364-7-12. PMC 3648363. PMID 23634723.
  10. Wright MW, Bruford EA (January 2011). "Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature". Human Genomics. 5 (2): 90–8. doi:10.1186/1479-7364-5-2-90. PMC 3051107. PMID 21296742.
  11. Wright MW (April 2014). "A short guide to long non-coding RNA gene nomenclature". Human Genomics. 8 (1): 7. doi:10.1186/1479-7364-8-7. PMC 4021045. PMID 24716852.
  12. Seal R, Chen L, Griffiths-Jones S, Lowe TM, Mathews MB, O'Reilly D, Pierce AJ, Stadler PF, Ulitsky I, Wolin SL, Bruford EA (Feb 2020). "A guide to naming human non-coding RNA genes". EMBO J. 39 (6): e103777. doi:10.15252/embj.2019103777. PMC 7073466. PMID 32090359.
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