| ZFIN ID: ZDB-GENE-050517-20 |
| Gene Name: | cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) |
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| Gene Symbol: | cftr |
| Previous Names: | abcc7 (1), si:dkey-270i2.2 (1) |
| Nomenclature History | |
| All Expression Data: | 3 figures from 2 publications |
| Wild-type Stages, Structures: | Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth) to Adult (90d-730d, breeding adult) |
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enterocyte apical plasma membrane,
enterocyte microvillus,
gut epithelium apical surface,
intestine
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| Curated Microarray Expression: | GEO (1) |
| Mutant lines: | 6 genotypes |
| Alleles: | pd1048, pd1049, pd1050 |
| Knockdown reagents: | MO1-cftr (1), MO2-cftr (1), MO3-cftr (1) |
| Data: | Fig. 2 from Phennicie et al., 2010 |
| Observed in: | respiratory burst involved in inflammatory response |
| Phenotype of Human Orthologue | OMIM Phenotype ID |
|---|---|
| Congenital bilateral absence of vas deferens | 277180 |
| Cystic fibrosis | 219700 |
| Sweat chloride elevation without CF | |
| {Bronchiectasis with or without elevated sweat chloride 1, modifier of} | 211400 |
| {Hypertrypsinemia, neonatal} | |
| {Pancreatitis, idiopathic} | 167800 |
| Ontology | GO Term |
|---|---|
| Biological Process | defense response to bacterium (more) |
| Cellular Component | integral to membrane (more) |
| Molecular Function | ATP binding (more) |
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| TgBAC(cftr:GFP), TgBAC(cftr:RFP) |
| cftr Contained in: | [BAC] DKEY-270I2 (1) (order this) |
| cftr Encodes: | [cDNA] MGC:198381 (1) (order this) |
| Type | Accession # | Length (bp/aa) | Analysis |
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| RNA | RefSeq:NM_001044883 (1) | 4458 bp |
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| Genomic | GenBank:DP000237 (1) |
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| Polypeptide | UniProtKB:Q1LX78 (1) | 1485 aa |
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| Sequence Clusters | UniGene:74099 (1) |
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| Chr: 18 Details |
| Evidence | ||||||
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| Species | Symbol | Chromosome (Position) | Accession # | AA | CL | |
| Zebrafish | cftr | 18 |
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| Human | CFTR | 7 (7q31.2) |
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| Mouse | Cftr | 6 ( 8.10) |
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