HGNC

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The HUGO Genome Nomenclature Committee (HGNC) is the worldwide authority that assigns standardized nomenclature to human genes. The HGNC is responsible for approving unique symbols (short-form abbreviation) and names for each of the genes identified by the Human Genome Project. [1] The HGNC operates under the Human Genome Organization (HUGO) to fulfill its responsibilities.

Once symbols become approved, they are stored in the HGNC database. Symbols must be unique so they can be talked about individually, and this also facilitates electronic data retrieval from publications and databases. Currently, almost 33,000 symbols have been approved for use in information systems. Most of these symbols are for protein coding genes, but other symbols include pseudogenes, non-coding RNAs, phenotypes and genomic features. [2]

History

The need for a standardized nomenclature of human genetics was recognized as early as the 1960's, in 1979 full guidelines were presented at the Edinburgh Human Genome Meeting (HGM). [3] The HGNC started out with just Dr Phyllis J. McAlpine, but has grown to form a team of post-docs and a bioinformatician. From 1996-2007, the HGNC was chaired by Professor Sue Povey and based at University College London. In 2007, the HGNC relocated to the European Bioinformatics institute (EBI), joining the PANDA (Protein and Nucleotide Database) group. [2] Interest in the area of genomic research has grown exponentially in the past decade. [1]

Summary of Guidelines

A summary of the naming guidelines is presented here:

  1. Each approved gene symbol must be unique.
  2. Symbols are short-form representations (or abbreviations) of the descriptive gene name.
  3. Symbols should only contain Latin letters and Arabic numerals.
  4. Symbols should not contain punctuation.
  5. Symbols should not contain "G" for gene.
  6. Symbols do not contain any reference to species, for example "H/h" for human.

A comprehensive overview of the HGNC guidelines can be found on their website. [4]

Examples

Approved Symbol Approved Name Previous Symbols Synonyms Chromosome
ABHD11 abhydrolase domain containing 11 WBSCR21 PP1226 7q11.23
NEUROD1 neuronal differentiation 1 NEUROD BETA2, BHF-1, NeuroD, bHLHa3, MODY6 2q32
TAL1 T-cell acute lymphocytic leukemia 1 TCL5 SCL, bHLHa17 1p32
FUT2 fucosyltransferase 2 (secretor status included) SE sej, Se2, SEC2 19q13.33
ZACN zinc activated ligand-gated ion channel LGICZ1 LGICZ, L2, ZAC, ZAC1 17q25.3

The full HGNC Gene Family dataset can be viewed and downloaded from their website [5]

See Also

References

  1. 1.0 1.1 Carter JH. 2008. Electronic Health Records: A Guide for Clinicians and Administrators, Second Edition. Philadelphia PA: ACP Press-American College of Physicians.
  2. 2.0 2.1 About the HGNC. http://www.genenames.org/about/overview
  3. Povey S, Lovering R, Bruford E, et al. The HUGO gene nomenclature committee (HGNC) Hum. Genet. 2001;109:678–680.
  4. HGNC Guidelines. http://www.genenames.org/guidelines.html
  5. HGNC Gene Families/Groupings Nomenclature. http://www.genenames.org/genefamilies/a-z


Submitted by Ben Lawrence