Abstract

The HUGO Gene Nomenclature Committee (HGNC) based at EMBL’s European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 40 000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes. The Vertebrate Gene Nomenclature Committee (VGNC) was established in 2016 to assign standardized nomenclature in line with human for vertebrate species that lack their own nomenclature committees. The VGNC initially assigned nomenclature for over 15000 protein-coding genes in chimpanzee. We have extended this process to other vertebrate species, naming over 14000 protein-coding genes in cow and dog and over 13 000 in horse to date. Our HGNC website https://www.genenames.org has undergone a major design update, simplifying the homepage to provide easy access to our search tools and making the site more mobile friendly. Our gene families pages are now known as ‘gene groups’ and have increased in number to over 1200, with nearly half of all named genes currently assigned to at least one gene group. This article provides an overview of our online data and resources, focusing on our work over the last two years.

Highlights

  • The HUGO Gene Nomenclature Committee (HGNC) is the only internationally recognized authority tasked with assigning unique and informative gene symbols and names to human genes

  • HGNC symbols are displayed in all major databases containing human gene and protein data including Ensembl (1), NCBI Gene (2), UniProt (3), GeneCards (4) and the UCSC genome browser (5), as well as resources focused on human disease and phenotypes such as Decipher (6), OMIM (7), Locus Reference Genomics (LRG) (8), ClinVar (9) and GeneTests (10)

  • We are prioritizing the naming of pseudogenes based on type, starting with those that are mainly unprocessed and consistently annotated. Some of these are subsequently found to be orthologous to protein coding genes in other species when we look across species as part of the Vertebrate Gene Nomenclature Committee (VGNC) project, for example we named VAMP9P based on its orthology to the published protein-coding rodent gene Vamp[9] (16)

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Summary

INTRODUCTION

The HUGO Gene Nomenclature Committee (HGNC) is the only internationally recognized authority tasked with assigning unique and informative gene symbols and names to human genes. We are currently naming genes in chimpanzee, dog, cow and horse, and all of this data can be found on the dedicated VGNC website https://vertebrate.genenames.org. As of September 2018, we have 41 439 approved gene symbols within our HGNC database, of which 19 194 are for protein-coding genes (Figure 1). We have been continuing to standardise and simplify human gene names prior to their transferral to other species as part of our ongoing VGNC project. This has included removing reference to species from gene names originally assigned based on an orthologous gene and removing reference to human phenotypes where possible. Just over 600 edits have been made to human protein-coding gene names (but not symbols) since September 2017

HUMAN NOMENCLATURE UPDATES
GENE GROUPS
NEW WEBSITE
GENE SYMBOL REPORTS
GENE GROUP REPORTS
UPDATES TO TOOLS AND DOWNLOADS
Findings
FUTURE DIRECTIONS
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