Nomenclature of Human and Vertebrate Genes

人类和脊椎动物基因的命名法

• 批准号: 8721470
• 负责人: Ewan Birney
• 金额: $ 49万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-15 至 2017-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8721470
• 关键词: Animal Model; Biotechnology; Canis familiaris; Chickens; Chromosomes; Code; Collaborations; Communication; Communities; Complex; Consensus; Cost Savings; Cytochrome P450; Data; Data Storage and Retrieval; Databases; Descriptor; Didelphidae; Disease; Educational workshop; Ensure; Family; Funding; Future; G-Protein-Coupled Receptors; Gene Duplication; Gene Family; Gene Structure; Genes; Genome; Genomics; Health; Human; Human Development; Human Genome; Institutes; Mus; Names; Nomenclature; Online Mendelian Inheritance In Man; Open Reading Frames; Orthologous Gene; Pan Genus; Phenotype; Phylogenetic Analysis; Play; Procedures; Process; Proteins; Protocols documentation; Pseudogenes; Public Domains; Publications; Publishing; RNA; Rattus; Receptor Gene; Research Personnel; Resources; Role; Science; Specialist; Structure; System; Trust; Vertebrates; Work; Writing; Xenopus; Zebrafish; authority; base; experience; genetic variant; genome annotation; genome database; improved; interest; mammalian genome; meetings; olfactory receptor; oral communication; tool; user-friendly; vertebrate genome

DESCRIPTION (provided by applicant): 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.

描述（由申请人提供）：生物医学研究人员需要令人难忘、简洁且独特的基因标识符，以便进行有效的书面和口头交流。对于人类基因，这些标识符可以在许多不同的数据库中以多种形式出现，例如EnsembI ENSG00000087053、Vega OTTHUMG00000153837、Entrez Gene GenelD:8898、UCSC uc001pfu.2、GeneCards GC11M095566、H-lnvDB H1X0010045、OMIM *603557，但最用户友好的唯一标识符无疑是HGNC基因符号，其中 本例中是 MTMR2。基因符号更容易识别、记忆和发音，因此在所有上述数据库中被用作主要描述符。这些符号促进了生物医学及其他领域的沟通、协作和理解。 HUGO 基因命名委员会 (HGNC) 是全球唯一为人类基因指定标准化命名的权威机构，并在 www.genenames.org 上维护着一个包含超过 32,000 个命名人类基因的可搜索公共数据库。这笔资金将允许 HGNC 继续开展重要工作，特别是在基因组参考联盟 (GRC) 注释的区域中命名新发现的人类蛋白质编码和 RNA 基因、假基因和拷贝数变异基因。进一步的关键活动是将具有无信息标识符的基因重新分配为基于功能的名称，因为该信息已被阐明和发布。 HGNC 还将继续在协调人类基因组中剩余未解决基因结构的注释方面发挥关键作用。 2009 年，脊椎动物基因组学界的代表参加了 HGNC 组织的研讨会，一致认为所有脊椎动物物种的基因命名都应基于人类基因名称。 HGNC 将根据多年的经验，与系统发育专家、复杂基因家族的专家顾问以及从事特定物种工作的社区合作，建立一个用于命名其他脊椎动物基因的资源。该资源最初将填充细胞色素 P450 和嗅觉受体基因超家族的专家整理数据。