standards > terminology artifact > DOI:10.25504/FAIRsharing.amcv1e
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ready HGNC Gene Symbols, Gene Names and IDs

Abbreviation: HGNC


General Information
The HGNC approves both a short-form abbreviation known as a gene symbol, and also a longer and more descriptive name. Each symbol is unique and the committee ensures that each gene is only given one approved gene symbol. This allows for clear and unambiguous reference to genes in scientific communications, and facilitates electronic data retrieval from databases and publications.

Homepage https://www.genenames.org/

Countries that developed this resource United Kingdom

Created in 1979

Taxonomic range




How to cite this record FAIRsharing.org: HGNC; HGNC Gene Symbols, Gene Names and IDs; DOI: https://doi.org/10.25504/FAIRsharing.amcv1e; Last edited: March 2, 2020, 6:59 p.m.; Last accessed: May 29 2020 8:58 p.m.


This record is maintained by genenames

Record updated: March 2, 2020, 2:37 p.m. by genenames.

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Publications

International system for human gene nomenclature (1979) ISGN (1979).

Shows TB,Alper CA,Bootsma D,Dorf M,Douglas T,Huisman T,Kit S,Klinger HP,Kozak C,Lalley PA,Lindsley D,McAlpine PJ,McDougall JK,Meera Khan P,Meisler M,Morton NE,Opitz JM,Partridge CW,Payne R,Roderick TH,Rubinstein P,Ruddle FH,Shaw M,Spranger JW,Weiss K
Cytogenet Cell Genet 1979

View Paper (PubMed) View Publication

Genenames.org: the HGNC and VGNC resources in 2019.

Braschi B,Denny P,Gray K,Jones T,Seal R,Tweedie S,Yates B,Bruford E
Nucleic Acids Res 2018

View Paper (PubMed) View Publication


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Implementing Databases (9)
HUGO Gene Nomenclature Committee
The HUGO Gene Nomenclature Committee (HGNC) is responsible for approving unique symbols, names and IDs for human loci, including protein coding genes, ncRNA genes and pseudogenes, to allow unambiguous scientific communication. The HGNC database is the resource for approved human gene nomenclature and is accessed via the website genenames.org. The website displays a page for every named gene and includes curated nomenclature information (including approved, previous and alias gene names and symbols). The website also displays manually curated gene group pages, the HCOP orthology tool and multi-symbol checker, and links to many other resources.

Orphanet
Orphanet is the reference resource for information on rare diseases and orphan drugs for all publics. Its aim is to contribute to the improvement of the diagnosis, care and treatment of patients with rare diseases. Orphanet maintains the Orphanet nomenclature, essential for interoperability, and the Orphanet Rare Disease Ontology (ORDO).

European Variation Archive
The European Variation Archive is an open-access archive that accepts submission of, and provides access to, all types of genetic variation data from all species. All users are able to download any dataset, or query our study catalogue via our variation table. Access to EVA data is also provided by RESTful web services for a variety of applications, such as annotation pipelines.

ClinVar
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible.

ENCODE Project
The ENCODE (Encyclopedia of DNA Elements) Consortium is an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI). The goal of ENCODE is to build a comprehensive parts list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active. ENCODE results from 2007 and later are available from this project. This covers data generated during the two production phases 2007-2012 and 2013-present.

Clinical Knowledgebase
The Jackson Laboratory Clinical Knowledgebase (CKB) is a semi-automated/manually curated database of gene/variant annotations, therapy knowledge, diagnostic/prognostic information, and clinical trials related to oncology. CKB not only contains current information on the protein effect of somatic gene variants, but also connects the variant to targeted therapies through an efficacy evidence annotation. In addition, CKB captures clinical trial patient eligibility criteria that include genomic alterations (genotype-specific). The public access version of CKB encompasses 82 commonly known driver genes. Users can search CKB via gene, gene variants, drug, drug class, indication, and clinical trials. The web-based version of CKB is designed to interrogate the knowledgebase for specific data attributes while also enabling a robust browse like feature when the desired content is unknown.

Target Central Resource Database
TCRD is the central resource behind the Illuminating the Druggable Genome Knowledge Management Center (IDG-KMC). TCRD contains information about human targets, with special emphasis on four families of targets that are central to the NIH IDG initiative: GPCRs, kinases, ion channels and nuclear receptors. Olfactory GPCRs (oGPCRs) are treated as a separate family. A key aim of the KMC is to classify the development/druggability level of targets. The official public portal for TCRD is Pharos (pharos.nih.gov). Based on modern web design principles the Pharos interface provides facile access to all data types collected by the KMC. Given the complexity of the data surrounding any target, efficient and intuitive visualization has been a high priority, to enable users to quickly navigate & summarize search results and rapidly identify patterns. A critical feature of the interface is the ability to perform flexible search and subsequent drill down of search results. Underlying the interface is a RESTful API that provides programmatic access to all KMC data, allowing for easy consumption in user applications.

MitoProteome
MitoProteome is a mitochondrial protein sequence database and annotation system. The initial release contains 847 human mitochondrial protein sequences, derived from public sequence databases and mass spectrometric analysis of highly purified human heart mitochondria.

Vertebrate Gene Nomenclature Committee
The Vertebrate Gene Nomenclature Committee (VGNC) is an extension of the established HGNC (HUGO Gene Nomenclature Committee) project that names human genes. VGNC is responsible for assigning standardized names to genes in vertebrate species that currently lack a nomenclature committee. The VGNC also coordinates with the 6 existing vertebrate nomenclature committees, MGNC (mouse), RGNC (rat), CGNC (chicken), AGNC (Anole green lizard), XNC (Xenopus frog) and ZNC (zebrafish), to ensure genes are named in line with their human homologs.

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Maintains

Grant Number(s)

  • 208349/Z/17/Z (The Wellcome Trust, UK)

  • U24HG003345 (National Human Genome Research Institute (NHGRI), NIH, United States)