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Human
CFTR - CF Transmembrane Conductance Regulator
Alias:
ABC35
|
ABCC7
|
CF
|
CFTR/MRP
|
MRP7
|
TNR-CFTR
|
dJ760C5.1
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Basic Information
Gene Type | NCBI | Transcripts | Exons | Length | MW (kDa) | Mutations | Related Diseases | Related Mouse Models | Reference |
|---|---|---|---|---|---|---|---|---|---|
Protein-coding | 1 | 27 | 188641 bp | 168.14 | 5604 Pathogenic: 1028 Likely Pathogenic: 306 Likely Benign: 1403 Benign: 112 Uncertain: 2755 | 24 | 24 | 138 |
CFTR Genetics information (+)
GRCh38
Sequence Homology
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
Related Diseases and Mutations
Current Gene-Associated Diseases and their Mutations:
Anatomical category: Specific site or related tissue/organ where the disease occurs.
Score: Indicates the strength of the association between the gene and the disease. Higher scores imply stronger associations.
Count: Number of mutations related to the gene and the disease. The number in parentheses represents the total data associated with the same Clinvar ID. Click the number to view mutation details.
Data Source: Clinvar
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.
] Up-Regulates.[
] Down-Regulates.
] Down-Regulates.[
] Form Complex.
] Form Complex.[
] Unknown.
] 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
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed