HUGO Gene Nomenclature Committee: Difference between revisions
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|citation = Braschi et al. (2019)<ref name="pmid30304474">{{cite journal | vauthors = Braschi B, Denny P, Gray K, Jones T, Seal R, Tweedie S, Yates B, Bruford E | display-authors = 6 | title = Genenames.org: the HGNC and VGNC resources in 2019 | journal = Nucleic Acids Research | volume = 47 | issue = D1 | pages = D786–D792 | date = January 2019 | pmid = 30304474 | pmc = 6324057 | doi = 10.1093/nar/gky930 }}</ref> |
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|webapp = {{URL|https://www.genenames.org/tools/hcop/|HGNC Comparison of Orthology Predictions}},<ref>{{cite journal| |
|webapp = {{URL|https://www.genenames.org/tools/hcop/|HGNC Comparison of Orthology Predictions}},<ref>{{cite journal | vauthors = Wright MW, Eyre TA, Lush MJ, Povey S, Bruford EA | title = HCOP: the HGNC comparison of orthology predictions search tool | journal = Mammalian Genome | volume = 16 | issue = 11 | pages = 827–8 | date = November 2005 | pmid = 16284797 | doi = 10.1007/s00335-005-0103-2 }}</ref><ref>{{cite journal | vauthors = Eyre TA, Wright MW, Lush MJ, Bruford EA | title = HCOP: a searchable database of human orthology predictions | journal = Briefings in Bioinformatics | volume = 8 | issue = 1 | pages = 2–5 | date = January 2007 | pmid = 16951416 | doi = 10.1093/bib/bbl030 }}</ref> {{URL|https://www.genenames.org/tools/search/|Search}} |
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The '''HUGO Gene Nomenclature Committee''' ('''HGNC''') is a committee of the [[Human Genome Organisation]] (HUGO) that sets the [[standardization|standards]] for human [[gene nomenclature]]. The HGNC approves a ''unique'' and ''meaningful'' name for every known human [[gene]],<ref>https://www.genenames.org/about/overview</ref> 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 [[International System of Units|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. |
The '''HUGO Gene Nomenclature Committee''' ('''HGNC''') is a committee of the [[Human Genome Organisation]] (HUGO) that sets the [[standardization|standards]] for human [[gene nomenclature]]. The HGNC approves a ''unique'' and ''meaningful'' name for every known human [[gene]],<ref>{{Cite web | url=https://www.genenames.org/about/overview |title = About the HGNC | HUGO Gene Nomenclature Committee}}</ref> 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 [[International System of Units|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. |
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== Purpose == |
== Purpose == |
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The full description of HGNC's nomenclature guidelines can be found on their web site [https://www.genenames.org/guidelines.html]. HGNC advocates the appendices ''_v1, _v2,..'' to distinguish between different [[Alternative splicing|splice variants]] and ''_pr1, _pr2,..'' for [[Promoter (biology)|promoter]] variants of a single gene. |
The full description of HGNC's nomenclature guidelines can be found on their web site [https://www.genenames.org/guidelines.html]. HGNC advocates the appendices ''_v1, _v2,..'' to distinguish between different [[Alternative splicing|splice variants]] and ''_pr1, _pr2,..'' for [[Promoter (biology)|promoter]] variants of a single gene. |
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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."<ref>{{cite journal| |
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."<ref>{{cite journal | vauthors = 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 | display-authors = 6 | title = Guidelines for human gene nomenclature. An international system for human gene nomenclature (ISGN, 1987) | journal = Cytogenetics and Cell Genetics | volume = 46 | issue = 1–4 | pages = 11–28 | year = 1987 | pmid = 3507270 | doi = 10.1159/000132471 | url = https://www.genenames.org/sites/genenames.org/files/documents/PMID3507270.pdf }}</ref> |
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Comprehensive human gene naming guidelines were last published in 2002,<ref>{{cite journal| |
Comprehensive human gene naming guidelines were last published in 2002,<ref>{{cite journal | vauthors = Wain HM, Bruford EA, Lovering RC, Lush MJ, Wright MW, Povey S | title = Guidelines for human gene nomenclature | journal = Genomics | volume = 79 | issue = 4 | pages = 464–70 | date = April 2002 | pmid = 11944974 | doi = 10.1006/geno.2002.6748 }}</ref> but the HGNC has subsequently issued guides to specific locus types such as endogenous retroviral loci,<ref>{{cite journal | vauthors = Mayer J, Blomberg J, Seal RL | title = A revised nomenclature for transcribed human endogenous retroviral loci | journal = Mobile DNA | volume = 2 | issue = 1 | pages = 7 | date = May 2011 | pmid = 21542922 | pmc = 3113919 | doi = 10.1186/1759-8753-2-7 }}</ref> structural variants <ref>{{cite journal | vauthors = Seal RL, Wright MW, Gray KA, Bruford EA | title = Vive la différence: naming structural variants in the human reference genome | journal = Human Genomics | volume = 7 | pages = 12 | date = May 2013 | pmid = 23634723 | pmc = 3648363 | doi = 10.1186/1479-7364-7-12 }}</ref> and non-coding RNAs.<ref>{{cite journal | vauthors = Wright MW, Bruford EA | title = Naming 'junk': human non-protein coding RNA (ncRNA) gene nomenclature | journal = Human Genomics | volume = 5 | issue = 2 | pages = 90–8 | date = January 2011 | pmid = 21296742 | pmc = 3051107 | doi = 10.1186/1479-7364-5-2-90 }}</ref><ref>{{cite journal | vauthors = Wright MW | title = A short guide to long non-coding RNA gene nomenclature | journal = Human Genomics | volume = 8 | issue = 1 | pages = 7 | date = April 2014 | pmid = 24716852 | pmc = 4021045 | doi = 10.1186/1479-7364-8-7 }}</ref> |
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== Naming procedure == |
== Naming procedure == |
Revision as of 18:31, 29 August 2019
Content | |
---|---|
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. |
Data types captured | Gene nomenclature |
Organisms | Human |
Contact | |
Research center | EMBL-EBI, UK; |
Primary citation | Braschi et al. (2019)[1] |
Access | |
Website | www www |
Download URL | Statistics & Downloads Custom Downloads HGNC Biomart |
Web service URL | rest |
Tools | |
Web | HGNC Comparison of Orthology Predictions,[2][3] Search |
Miscellaneous | |
Curation policy | 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] 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
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:
- 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 full description of HGNC's nomenclature guidelines can be found on their web site [1]. 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."[5]
Comprehensive human gene naming guidelines were last published in 2002,[6] but the HGNC has subsequently issued guides to specific locus types such as endogenous retroviral loci,[7] structural variants [8] and non-coding RNAs.[9][10]
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
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "About the HGNC | HUGO Gene Nomenclature Committee".
- ^ 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.
- ^ 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.
- ^ 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.
{{cite journal}}
: CS1 maint: unflagged free DOI (link) - ^ 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.
{{cite journal}}
: CS1 maint: unflagged free DOI (link) - ^ 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.
{{cite journal}}
: CS1 maint: unflagged free DOI (link) - ^ 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.
{{cite journal}}
: CS1 maint: unflagged free DOI (link)
External links
- HGNC gene symbol (P353) (see uses)
- HGNC ID (P354) (see uses)