Biomedical researchers need memorable, concise and unique identifiers for genes for effective written and oral communication. For human genes these identifiers can come in many forms in many different databases, e.g. EnsembI ENSG00000087053, Vega OTTHUMG00000153837, Entrez Gene GenelD:8898, UCSC uc001pfu.2, GeneCards GC11M095566, H-lnvDB H1X0010045, OMIM *603557, but the most user friendly unique identifier is undoubtedly the HGNC gene symbol, which in this example is MTMR2. Gene symbols are more easily recognized, remembered and pronounced, and hence are used as the primary descriptors in all of the above databases. These symbols enable communication, collaboration and understanding across the biomedical sciences and beyond. The HUGO Gene Nomenclature Committee (HGNC) is the sole worldwide authority assigning standardized nomenclature to human genes, and maintains a searchable public database of over 32,000 named human genes at www.genenames.org. This funding will allow for the continuance of the vital work of the HGNC, in particular naming newly identified human protein-coding and RNA genes, pseudogenes, and copy number variant genes in regions annotated by the Genome Reference Consortium (GRC). A further key activity will be the reassignment of genes with uninformative identifiers to function-based names as this information is elucidated and published. The HGNC will also continue to play a pivotal role in the coordination of annotation of the remaining unresolved gene structures in the human genome. In 2009 representatives from the vertebrate genomics community met at a workshop organized by the HGNC and agreed that gene naming across all vertebrate species should be based on human gene names. Building on their years of experience the HGNC will establish a resource for naming genes in other vertebrates, in collaboration with phylogenetics experts, specialist advisors for complex gene families, and communities working on specific species. This resource will be initially populated with expert-curated data for the cytochrome P450 and olfactory receptor gene superfamilies.

Public Health Relevance

Unique and user-friendly gene identifiers, in the form of standardized gene symbols, are essential for effective communication within the biomedical sciences and beyond. These gene symbols ensure that everyone can refer to the same genes in a clear and consistent way, and facilitate collaboration and efficient data retrieval to aid understanding of the processes that influence human development, health and disease, resulting in considerable cost-savings worldwide.

Agency
National Institute of Health (NIH)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
5U41HG003345-10
Application #
8721470
Study Section
Ethical, Legal, Social Implications Review Committee (GNOM)
Program Officer
Wellington, Christopher
Project Start
Project End
Budget Start
Budget End
Support Year
10
Fiscal Year
2014
Total Cost
Indirect Cost
Name
European Molecular Biology Laboratory
Department
Type
DUNS #
321691735
City
Heidelberg
State
Country
Germany
Zip Code
69117
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