This gene encodes the complementation group E subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The FA complex is necessary for protection against DNA damage. This gene product is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Defects in the related human gene are a cause of Fanconi anemia, a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Translation of this protein is initiated at a non-AUG (CUG) start codon, which is inferred from the related human gene and the notion that this protein is functionally indispensable. Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2009]
Compare the differences in orthologous genes between rat, mouse, and human regarding the following aspects:
Gene Length: Chromosomal location and the number of base pairs within the gene.
Transcript Length: MANE (Matched Annotation from NCBI and EMBL-EBI) transcript ID and its sequence length.
Protein Length: MANE protein ID and its length information.
Exon count: The count of exons in the MANE transcript of the gene.
CDS homology: Comparison of CDS splice sequence similarity encoding MANE proteins, with human, mouse, or rat sequence as the baseline (100% reference).
Protein homology: Comparison of amino acid sequence similarity of MANE proteins, using human, mouse, or rat sequence as the baseline (100% reference).
Data Sources: NCBI, ALLIANCE
Transcripts & Proteins
Overview of Current Gene Transcripts, Switchable Between Table and Graph Views:
Table: Provides a summary of transcript sequence length, exon count, CDS (Coding Sequence) length, associated protein sequence ID, protein sequence length, and other relevant information.
Tile: Offers a visual representation of introns, exons, UTRs (Untranslated Regions), and CDS (Coding Sequence).
MANE Select: The primary 1:1 matched representative transcript for human genes.
MANE Plus Clinical: Additional transcripts required for clinical interpretation.
RefSeq Select: The best representative transcript for non-human species (e.g., Mouse) or other RefSeq genes.
Data Source: NCBI
Gene Expression
Current RNA expression levels of the gene across various tissues and cell types, allowing users to sort by tissue type, specific expression values, or alphabetical order.
Data Source: NCBI
Interactions
Interacting Genes of the Current Gene, Including:
Acting, Target: Distinguishes the upstream interacting protein from the downstream target protein in the interaction chain.
Regulation: Four types of regulation.
[] Up-Regulates.
[] Down-Regulates.
[] Form Complex.
[] Unknown.
Solid lines indicate direct interactions, dashed lines represent indirect ones.
Acting, Target: Distinguishes the upstream interacting protein from the downstream target protein in the interaction chain.
Details: Indicates changes in protein quantity or activity post-interaction.
Mechanism: Elucidates functional transitions resulting from the interaction.
Residues: Specifies the particular amino acid residues involved in the interaction, along with the studied species, tissue, or cell.
References: Summarizes and displays relevant interaction studies, their publications, and overviews, with indications of the studied species, tissue, or cell.
Score: Quantifies the tightness of the interaction through a scoring system. Higher scores imply stronger associations.
Data Source: Signor, PubMed
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.