Entrez Gene

Entrez Gene provides curated, gene-specific information integrating RefSeq, collaborating model organism databases, and Gene Ontology to support genomic, molecular biology, and variant interpretation research.

Key Features:

• Nomenclature: Standardized gene names and symbols are provided for consistent reference.
• Genomic Location: Detailed mapping of gene positions within genomes is included.
• Gene Products and Attributes: Information on proteins and other gene products with functional attributes is recorded.
• Markers and Phenotypes: Data linking genetic markers to observable traits and phenotypes is available.
• Citations and Links: References to scientific literature and links to related sequences and variations are provided.
• Sequences and Variation Details: Comprehensive sequence records and information on genetic variants are maintained.
• Maps and Expression: Gene location maps and expression-related data are included.
• Homologs and Protein Domains: Evolutionary homolog information and protein domain annotations are supplied.
• External Databases: Cross-references to other relevant bioinformatics resources are included.
• Stable Integer Identifiers: Each gene record is assigned a unique, stable integer identifier for consistent tracking.
• RefSeq and Curation Integration: Content integrates curated and automated data from NCBI RefSeq, collaborating model organism databases, and consortia such as Gene Ontology.
• Programmatic Access: Programmatic retrieval is supported via NCBI E-Utilities.
• Bulk Data Transfer: Bulk downloads and data distribution are supported via FTP.

Scientific Applications:

• Gene annotation: Standardizing nomenclature and annotating gene attributes for genomic analyses.
• Variant interpretation: Mapping sequences and variants to genes for clinical and research interpretation.
• Comparative genomics: Identifying homologs and comparing gene locations and domains across species.
• Functional analysis: Linking gene products to protein domains, functions, and expression data.
• Genotype–phenotype mapping: Associating markers and variants with observable traits and phenotypes.
• Literature integration: Connecting genes to citations and external database resources for evidence synthesis.

Methodology:

Integrates curated and automated content from NCBI RefSeq, collaborating model organism databases, and consortia such as Gene Ontology; assigns unique stable integer identifiers to records; and provides programmatic access via NCBI E-Utilities and bulk data transfer via FTP.