Cftr (cystic fibrosis transmembrane conductance regulator) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: Cftr (cystic fibrosis transmembrane conductance regulator) Mus musculus
Analyze
Symbol: Cftr
Name: cystic fibrosis transmembrane conductance regulator
RGD ID: 10331
MGI Page MGI
Description: Enables bicarbonate transmembrane transporter activity and chloride channel activity. Involved in several processes, including cellular response to cAMP; chloride transmembrane transport; and positive regulation of transport. Acts upstream of or within several processes, including chloride transport; cholesterol biosynthetic process; and cholesterol transport. Located in apical plasma membrane and cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; musculoskeletal system; and respiratory tract epithelium. Used to study cystic fibrosis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Abcc; Abcc7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; ATP-binding cassette, subfamily c, member 7; AW495489; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39618,170,686 - 18,322,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl618,170,686 - 18,322,767 (+)EnsemblGRCm39 Ensembl
GRCm38618,170,687 - 18,322,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl618,170,687 - 18,322,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv37618,120,687 - 18,272,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36618,120,687 - 18,272,767 (+)NCBIMGSCv36mm8
Celera618,244,038 - 18,394,318 (+)NCBICelera
Cytogenetic Map6A2NCBI
cM Map68.1NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alcoholic pancreatitis  (ISO)
allergic bronchopulmonary aspergillosis  (ISO)
Alzheimer's disease  (ISO)
aspergillosis  (IMP)
asthma  (ISO)
autism spectrum disorder  (ISO)
autosomal recessive congenital bilateral absence of vas deferens  (ISO)
autosomal recessive polycystic kidney disease  (ISO)
azoospermia  (ISO)
Breast Neoplasms  (ISO)
bronchiectasis  (ISO)
bronchiectasis 1  (ISO)
choledochal cyst  (ISO)
cholelithiasis  (ISO)
cholestasis  (ISO)
Chronic Bronchitis  (ISO)
chronic obstructive pulmonary disease  (ISO)
Chronic Pancreatitis  (ISO)
Colorectal Neoplasms  (ISO)
congenital bilateral absence of vas deferens  (ISO)
cryptorchidism  (IEP)
cystic fibrosis  (IAGP,IMP,ISO)
dental enamel hypoplasia  (ISO)
Diaphragmatic Hernia  (ISO)
duodenal atresia  (ISO)
duodenal ulcer  (ISO)
exocrine pancreatic insufficiency  (ISO)
Experimental Diabetes Mellitus  (IAGP)
gastric ulcer  (ISO)
genetic disease  (ISO)
Hereditary Pancreatitis  (ISO)
Hypertriglyceridemia  (ISO)
infertility  (ISO)
influenza  (IMP)
Liver Injury  (ISO)
lung cancer  (ISO)
lung disease  (ISO)
male infertility  (ISO)
megacolon  (ISO)
Metabolic Bone Diseases  (IAGP)
myocardial infarction  (IMP)
Nontuberculous Mycobacterium Infections  (ISO)
Nuchal Bleb, Familial  (ISO)
pancreatic cancer  (ISO)
pancreatitis  (ISO)
pleomorphic xanthoastrocytoma  (ISO)
primary sclerosing cholangitis  (ISO)
prostatic hypertrophy  (ISO)
Pseudomonas Infections  (IMP)
pulmonary sarcoidosis  (ISO)
renal agenesis  (ISO)
renal cell carcinoma  (ISO)
Renal Cell Carcinoma 1  (ISO)
respiratory syncytial virus infectious disease  (IMP)
rhinitis  (ISO)
salpingitis  (IMP,ISO)
schizophrenia  (ISO)
sinusitis  (ISO)
Staphylococcal Pneumonia  (IMP)
substance-related disorder  (ISO)
tracheal disease  (IMP)
typhoid fever  (ISO)
Y-linked spermatogenic failure 2  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R,R)-alpha-tocopherol  (ISO)
(S)-naringenin  (ISO)
1,1'-azobis(N,N-dimethylformamide)  (ISO)
1,10-phenanthroline  (ISO)
1,2-dichloroethane  (EXP)
1,4-dithiothreitol  (ISO)
1-heptanol  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3',5'-cyclic AMP  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-phenylbutyric acid  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
9-anthroic acid  (ISO)
acetamide  (ISO)
acivicin  (ISO)
adenosine  (ISO)
ADP  (ISO)
aflatoxin B1  (ISO)
AICA ribonucleotide  (ISO)
all-trans-retinoic acid  (EXP)
amiloride  (EXP,ISO)
aminoguanidine  (ISO)
ammonium chloride  (ISO)
AMP-PNP  (ISO)
apigenin  (ISO)
arsenite(3-)  (ISO)
ATP  (ISO)
atrazine  (ISO)
baclofen  (ISO)
baicalein  (ISO)
belinostat  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
brefeldin A  (ISO)
brimonidine tartrate  (EXP)
bumetanide  (ISO)
cadmium atom  (EXP,ISO)
capsaicin  (EXP)
carbon nanotube  (ISO)
CGP 12177  (ISO)
chelerythrine  (ISO)
chlorothalonil  (EXP)
choline  (EXP)
chromium(6+)  (EXP)
cilostazol  (ISO)
clobetasol  (EXP)
clofibrate  (EXP)
clonidine  (EXP)
clonidine (amino form)  (EXP)
clonidine (imino form)  (EXP)
colforsin daropate hydrochloride  (EXP,ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cycloheximide  (ISO)
cyclosporin A  (ISO)
DDT  (ISO)
decan-1-ol  (ISO)
desmopressin  (ISO)
dextran sulfate  (EXP)
dibromine  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (EXP)
diprotium oxide  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
enilconazole  (EXP)
ethanol  (EXP)
fenamic acid  (EXP,ISO)
flufenamic acid  (ISO)
folic acid  (EXP)
fulvestrant  (ISO)
furan  (ISO)
geldanamycin  (ISO)
gemfibrozil  (EXP)
geneticin  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glutathione  (EXP,ISO)
glutathione disulfide  (ISO)
glyburide  (EXP,ISO)
glycidol  (ISO)
Guanylin  (ISO)
gusperimus  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydrogencarbonate  (EXP,ISO)
inulin  (EXP)
iodide salt  (ISO)
ionomycin  (ISO)
irinotecan  (ISO)
iron(III) citrate  (ISO)
isoprenaline  (ISO)
ivacaftor  (ISO)
kaempferol  (ISO)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (EXP)
lithium chloride  (ISO)
lonidamine  (ISO)
lumacaftor  (ISO)
LY294002  (ISO)
manganese(II) chloride  (ISO)
medetomidine  (EXP)
mercury dibromide  (ISO)
methacholine chloride  (ISO)
miglustat  (ISO)
milrinone  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Acetylleucyl-leucyl-methioninal  (ISO)
N-acetylsphingosine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethylmaleimide  (ISO)
naphthalene  (EXP)
naringin  (EXP)
nickel atom  (ISO)
Niflumic acid  (ISO)
nimodipine  (EXP,ISO)
nitrates  (ISO)
nitric oxide  (ISO)
nocodazole  (ISO)
octan-1-ol  (ISO)
octan-2-ol  (ISO)
okadaic acid  (ISO)
omeprazole  (EXP)
osimertinib  (ISO)
ozone  (EXP,ISO)
P(1),P(5)-bis(5'-adenosyl) pentaphosphate  (ISO)
p-chloromercuribenzoic acid  (ISO)
PAPA NONOate  (ISO)
papaverine  (ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (ISO)
phloretin  (ISO)
phosphoramide mustard  (ISO)
primaquine  (ISO)
procymidone  (EXP)
progesterone  (ISO)
quercetin  (ISO)
resveratrol  (EXP,ISO)
roflumilast  (EXP,ISO)
rolipram  (ISO)
S-nitrosoglutathione  (ISO)
Salmeterol xinafoate  (ISO)
SB 431542  (ISO)
serotonin  (ISO)
sildenafil citrate  (ISO)
silicon dioxide  (ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium atom  (ISO)
sodium iodide  (ISO)
sulforaphane  (EXP)
tamoxifen  (EXP)
taurocholic acid  (EXP)
taurolithocholic acid sulfate  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP)
tetramethylpyrazine  (EXP,ISO)
thapsigargin  (ISO)
thiocyanate  (ISO)
thiourea  (ISO)
titanium dioxide  (EXP,ISO)
tremolite asbestos  (EXP)
tributylstannane  (EXP)
trichostatin A  (ISO)
triphenyl phosphate  (EXP)
triptonide  (EXP)
valproic acid  (EXP,ISO)
vasopressin  (EXP)
vasotocin  (ISO)
water  (ISO)
wortmannin  (ISO)
xanthohumol  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amelogenesis  (IDA)
bicarbonate transport  (IBA,ISO)
cellular response to anoxia  (ISO)
cellular response to cAMP  (IDA)
cellular response to forskolin  (ISO)
cellular response to heat  (ISO)
cellular response to hormone stimulus  (ISO)
chloride transmembrane transport  (IBA,IDA,IMP,ISO)
chloride transport  (IGI,ISO)
cholesterol biosynthetic process  (IMP)
cholesterol transport  (IMP)
enamel mineralization  (ISO)
establishment of localization in cell  (IGI)
intracellular pH elevation  (IMP)
liver regeneration  (ISO)
lung development  (ISO)
membrane hyperpolarization  (IMP)
monoatomic ion transport  (IEA)
multicellular organismal-level water homeostasis  (ISO)
negative regulation of type B pancreatic cell development  (ISO)
negative regulation of vascular associated smooth muscle cell apoptotic process  (ISO)
positive regulation of cyclic nucleotide-gated ion channel activity  (IMP,ISO)
positive regulation of enamel mineralization  (IDA)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of exocytosis  (IMP,ISO)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IMP,ISO)
positive regulation of mast cell activation  (ISO)
positive regulation of voltage-gated chloride channel activity  (ISO)
regulation of membrane depolarization  (IMP)
response to cytokine  (ISO)
response to endoplasmic reticulum stress  (ISO)
response to estrogen  (ISO)
response to peptide hormone  (ISO)
response to xenobiotic stimulus  (ISO)
sodium ion transmembrane transport  (ISO)
sperm capacitation  (IMP)
transepithelial chloride transport  (ISO)
transepithelial water transport  (ISO)
transmembrane transport  (IEA)
vasodilation  (ISO)
vesicle docking involved in exocytosis  (IMP)
water transport  (ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal alveolar macrophage morphology  (IAGP)
abnormal alveolar macrophage physiology  (IAGP)
abnormal bile duct morphology  (IAGP)
abnormal bronchus morphology  (IAGP)
abnormal Brunner's gland morphology  (IAGP)
abnormal cecum morphology  (IAGP)
abnormal colon goblet cell morphology  (IAGP)
abnormal colon morphology  (IAGP)
abnormal crypts of Lieberkuhn morphology  (IAGP)
abnormal digestive system physiology  (IAGP)
abnormal fluid regulation  (IAGP)
abnormal gait  (IAGP)
abnormal gallbladder morphology  (IAGP)
abnormal gallbladder physiology  (IAGP)
abnormal gland morphology  (IAGP)
abnormal hepatocyte morphology  (IAGP)
abnormal ileal goblet cell morphology  (IAGP)
abnormal intestinal goblet cell morphology  (IAGP)
abnormal intestinal mucosa morphology  (IAGP)
abnormal intestine morphology  (IAGP)
abnormal intestine physiology  (IAGP)
abnormal ion homeostasis  (IAGP)
abnormal jejunum morphology  (IAGP)
abnormal lacrimal gland morphology  (IAGP)
abnormal large intestine crypts of Lieberkuhn morphology  (IAGP)
abnormal lung morphology  (IAGP)
abnormal mucociliary clearance  (IAGP)
abnormal nasal mucosa morphology  (IAGP)
abnormal pancreas morphology  (IAGP)
abnormal pancreas physiology  (IAGP)
abnormal paranasal sinus morphology  (IAGP)
abnormal phospholipid level  (IAGP)
abnormal physiological response to xenobiotic  (IAGP)
abnormal pulmonary alveolus morphology  (IAGP)
abnormal respiratory system physiology  (IAGP)
abnormal salivary gland morphology  (IAGP)
abnormal small intestinal crypt cell physiology  (IAGP)
abnormal small intestine crypts of Lieberkuhn morphology  (IAGP)
abnormal small intestine goblet cell morphology  (IAGP)
abnormal small intestine morphology  (IAGP)
abnormal submandibular gland morphology  (IAGP)
abnormal submucosal gland morphology  (IAGP)
abnormal thymus involution  (IAGP)
abnormal trachea gland morphology  (IAGP)
abnormal trachea morphology  (IAGP)
abnormal uterine cervix morphology  (IAGP)
abnormal vas deferens morphology  (IAGP)
abnormal vital capacity  (IAGP)
absent estrous cycle  (IAGP)
acute pancreas inflammation  (IAGP)
aphagia  (IAGP)
asthenozoospermia  (IAGP)
atelectasis  (IAGP)
bile duct epithelium hyperplasia  (IAGP)
cachexia  (IAGP)
coiled cecum  (IAGP)
crypts of Lieberkuhn abscesses  (IAGP)
decreased body length  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased corpora lutea number  (IAGP)
decreased intestinal epithelial chloride transmembrane transport  (IAGP)
decreased intestinal epithelial sodium ion transmembrane transport  (IAGP)
decreased litter size  (IAGP)
decreased neutrophil cell number  (IAGP)
decreased ovary weight  (IAGP)
decreased ovulation rate  (IAGP)
decreased physiological sensitivity to xenobiotic  (IAGP)
decreased respiratory epithelial chloride transmembrane transport  (IAGP)
decreased respiratory epithelial sodium ion transmembrane transport  (IAGP)
decreased small intestinal villus number  (IAGP)
decreased survivor rate  (IAGP)
decreased uterus weight  (IAGP)
delayed sexual maturation  (IAGP)
dilated Brunner's gland  (IAGP)
dilated crypt of Lieberkuhn  (IAGP)
dilated gallbladder  (IAGP)
dilated pancreatic acinus  (IAGP)
dilated pancreatic duct  (IAGP)
disheveled coat  (IAGP)
distended abdomen  (IAGP)
enlarged gallbladder  (IAGP)
female infertility  (IAGP)
gallbladder inflammation  (IAGP)
ileum hypertrophy  (IAGP)
impaired fertilization  (IAGP)
impaired sperm capacitation  (IAGP)
impaired sperm migration in female genital tract  (IAGP)
increased lung compliance  (IAGP)
increased respiratory epithelial sodium ion transmembrane transport  (IAGP)
increased respiratory mucosa goblet cell number  (IAGP)
increased susceptibility to bacterial infection  (IAGP)
increased susceptibility to bacterial infection induced morbidity/mortality  (IAGP)
increased susceptibility to infection  (IAGP)
intestinal inflammation  (IAGP)
intestinal mucus accumulation  (IAGP)
intestinal obstruction  (IAGP)
intestinal ulcer  (IAGP)
lacrimal gland atrophy  (IAGP)
lethality, incomplete penetrance  (IAGP)
lung inflammation  (IAGP)
meconium ileus  (IAGP)
no abnormal phenotype detected  (IAGP)
pancreatic acinar cell atrophy  (IAGP)
pancreatic acinar cell zymogen granule accumulation  (IAGP)
peritoneal inflammation  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
preweaning lethality, complete penetrance  (IAGP)
prolonged estrous cycle  (IAGP)
pulmonary epithelial necrosis  (IAGP)
pulmonary interstitial fibrosis  (IAGP)
reduced female fertility  (IAGP)
reduced male fertility  (IAGP)
respiratory system inflammation  (IAGP)
small cecum  (IAGP)
small ovary  (IAGP)
small pancreas  (IAGP)
small uterus  (IAGP)
spleen hyperplasia  (IAGP)
thin uterus  (IAGP)
transmission ratio distortion  (IAGP)
weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Heterozygosity for the F508del mutation in the cystic fibrosis transmembrane conductance regulator anion channel attenuates influenza severity. Aeffner F, etal., J Infect Dis. 2013 Sep 1;208(5):780-9. doi: 10.1093/infdis/jit251. Epub 2013 Jun 7.
2. Involvement of cystic fibrosis transmembrane conductance regulator (CFTR) in the pathogenesis of hydrosalpinx induced by Chlamydia trachomatis infection. Ajonuma LC, etal., J Obstet Gynaecol Res. 2008 Dec;34(6):923-30. doi: 10.1111/j.1447-0756.2008.00826.x.
3. A novel small molecule CFTR inhibitor attenuates HCO3- secretion and duodenal ulcer formation in rats. Akiba Y, etal., Am J Physiol Gastrointest Liver Physiol. 2005 Oct;289(4):G753-9. Epub 2005 May 19.
4. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study. Amaral MD, etal., J Med Genet. 2001 Nov;38(11):777-83.
5. Quantification of CFTR splice variants in adults with disseminated bronchiectasis, using the TaqMan fluorogenic detection system. Andrieux J, etal., Clin Genet. 2002 Jul;62(1):60-7.
6. Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Banales JM, etal., Am J Pathol. 2008 Dec;173(6):1637-46. Epub 2008 Nov 6.
7. Congenital tracheal malformation in cystic fibrosis transmembrane conductance regulator-deficient mice. Bonvin E, etal., J Physiol. 2008 Jul 1;586(13):3231-43. Epub 2008 May 1.
8. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Burgel PR, etal., Clin Genet. 2010 Apr;77(4):355-64. Epub 2009 Oct 15.
9. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Casals T, etal., Hum Genet. 1997 Dec;101(3):365-70.
10. Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis. Chang YT, etal., Clin Chem. 2008 Jan;54(1):131-8. Epub 2007 Nov 2.
11. Cystic fibrosis transmembrane conductance regulator regulates epithelial cell response to Aspergillus and resultant pulmonary inflammation. Chaudhary N, etal., Am J Respir Crit Care Med. 2012 Feb 1;185(3):301-10. doi: 10.1164/rccm.201106-1027OC. Epub 2011 Dec 1.
12. Cryptorchidism-induced CFTR down-regulation results in disruption of testicular tight junctions through up-regulation of NF-kappaB/COX-2/PGE2. Chen J, etal., Hum Reprod. 2012 Sep;27(9):2585-97. doi: 10.1093/humrep/des254. Epub 2012 Jul 9.
13. Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Cleveland RH, etal., Radiology. 2009 Dec;253(3):813-21.
14. Familial clustering of pulmonary nontuberculous mycobacterial disease. Colombo RE, etal., Chest. 2010 Mar;137(3):629-34. Epub 2009 Oct 26.
15. A truncated CFTR protein rescues endogenous DeltaF508-CFTR and corrects chloride transport in mice. Cormet-Boyaka E, etal., FASEB J. 2009 Nov;23(11):3743-51. Epub 2009 Jul 20.
16. Genetic and biochemical markers of obstructive lung disease in the general population. Dahl M Clin Respir J. 2009 Apr;3(2):121-2.
17. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. Daudin M, etal., Fertil Steril. 2000 Dec;74(6):1164-74.
18. Role for cystic fibrosis transmembrane conductance regulator protein in a glutathione response to bronchopulmonary pseudomonas infection. Day BJ, etal., Infect Immun. 2004 Apr;72(4):2045-51. doi: 10.1128/iai.72.4.2045-2051.2004.
19. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Dean M, etal., Cell. 1990 Jun 1;61(5):863-70.
20. The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Dickinson P, etal., Hum Mol Genet 2002 Feb 1;11(3):243-51.
21. High frequency of the R75Q CFTR variation in patients with chronic obstructive pulmonary disease. Divac A, etal., J Cyst Fibros. 2004 Aug;3(3):189-91.
22. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Dork T, etal., Hum Genet. 1992 Nov;90(3):279-84.
23. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Dork T, etal., Hum Genet. 1997 Sep;100(3-4):365-77.
24. Characterization of two rat models of cystic fibrosis-KO and F508del CFTR-Generated by Crispr-Cas9. Dreano E, etal., Animal Model Exp Med. 2019 Nov 25;2(4):297-311. doi: 10.1002/ame2.12091. eCollection 2019 Dec.
25. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. el-Harith EA, etal., J Med Genet. 1997 Dec;34(12):996-9.
26. A cystic fibrosis mutation associated with mild lung disease. Gan KH, etal., N Engl J Med. 1995 Jul 13;333(2):95-9.
27. Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. Gasparini P, etal., J Med Genet. 1992 Aug;29(8):558-62.
28. Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus. Hamosh A, etal., Am J Hum Genet. 1992 Aug;51(2):245-50.
29. A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype. Hergersberg M, etal., Hum Genet. 1997 Aug;100(2):220-3.
30. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. Highsmith WE, etal., N Engl J Med. 1994 Oct 13;331(15):974-80.
31. Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis. Jang MA, etal., J Hum Genet. 2013 May;58(5):298-303. doi: 10.1038/jhg.2013.19. Epub 2013 Mar 21.
32. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. Kalin N, etal., Hum Mutat. 1992;1(3):204-10.
33. Cystic fibrosis transmembrane conductance regulators (CFTR) in biliary epithelium of patients with hepatolithiasis. Kim HJ, etal., Dig Dis Sci. 2002 Aug;47(8):1758-65. doi: 10.1023/a:1016488327019.
34. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Kim RD, etal., Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. Epub 2008 Aug 14.
35. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. Kolesar P, etal., Gen Physiol Biophys. 2008 Dec;27(4):299-305.
36. Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese. Kondo S, etal., Am J Physiol Gastrointest Liver Physiol. 2015 Aug 15;309(4):G260-9. doi: 10.1152/ajpgi.00015.2014. Epub 2015 Jun 18.
37. Detection of CFTR gene mutations in patients suffering from chronic bronchitis. Kostuch M, etal., Arch Med Res. 2000 Jan-Feb;31(1):97-100.
38. Reduced expression of the cystic fibrosis transmembrane conductance regulator gene in the hypothalamus of patients with Alzheimer's disease. Lahousse SA, etal., J Alzheimers Dis. 2003 Dec;5(6):455-62.
39. Staphylococcus aureus Survives in Cystic Fibrosis Macrophages, Forming a Reservoir for Chronic Pneumonia. Li C, etal., Infect Immun. 2017 Apr 21;85(5). pii: IAI.00883-16. doi: 10.1128/IAI.00883-16. Print 2017 May.
40. Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk. Li Y, etal., Lung Cancer. 2010 Oct;70(1):14-21. doi: 10.1016/j.lungcan.2010.01.005. Epub 2010 Feb 8.
41. Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in greek patients. Makrythanasis P, etal., Genet Test Mol Biomarkers. 2010 Aug;14(4):577-84.
42. Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. Marchand E, etal., Chest. 2001 Mar;119(3):762-7.
43. Evolution of CFTR protein distribution in lung tissue from normal and CF human fetuses. Marcorelles P, etal., Pediatr Pulmonol. 2007 Nov;42(11):1032-40.
44. CFTR genotype as a predictor of prognosis in cystic fibrosis. McKone EF, etal., Chest. 2006 Nov;130(5):1441-7.
45. G551D CF mice display an abnormal host response and have impaired clearance of Pseudomonas lung disease. McMorran BJ, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Sep;281(3):L740-7.
46. Cystic fibrosis transmembrane regulator gene carrier status is a risk factor for young onset pancreatic adenocarcinoma. McWilliams R, etal., Gut. 2005 Nov;54(11):1661-2.
47. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
48. MGDs mouse GO annotations MGD data from the GO Consortium
49. MGD IEA MGD IEA
50. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. Ngiam NS, etal., J Cyst Fibros. 2006 Aug;5(3):159-64. Epub 2006 Mar 6.
51. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
52. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Osborne L, etal., Hum Genet. 1992 Aug;89(6):653-8.
53. Osteopenia in Cftr-deltaF508 mice. Paradis J, etal., J Cyst Fibros. 2010 Jul;9(4):239-45. doi: 10.1016/j.jcf.2010.05.001. Epub 2010 May 31.
54. Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. Piepoli A, etal., World J Gastroenterol. 2006 Oct 21;12(39):6343-8.
55. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Pignatti PF, etal., Hum Mol Genet. 1995 Apr;4(4):635-9.
56. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
57. Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. Raman V, etal., Pediatrics. 2002 Jan;109(1):E13.
58. Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. Ravnik-Glavac M, etal., Pflugers Arch. 2000;439(3 Suppl):R53-5.
59. Mouse MP Annotation Import Pipeline RGD automated import pipeline
60. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
61. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
62. Transgenic cystic fibrosis mice exhibit reduced early clearance of Pseudomonas aeruginosa from the respiratory tract. Schroeder TH, etal., J Immunol. 2001 Jun 15;166(12):7410-8. doi: 10.4049/jimmunol.166.12.7410.
63. Increased expression of cystic fibrosis transmembrane conductance regulator in rat liver after common bile duct ligation. Shen H, etal., J Cell Physiol. 2005 Jun;203(3):599-603.
64. Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Sheth S, etal., Hum Genet. 2003 Aug;113(3):286-92. doi: 10.1007/s00439-003-0963-z. Epub 2003 Jun 3.
65. Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Shoshani T, etal., Am J Hum Genet. 1992 Jan;50(1):222-8.
66. An animal model for cystic fibrosis made by gene targeting. Snouwaert JN, etal., Science. 1992 Aug 21;257(5073):1083-8.
67. Cystic fibrosis transmembrane conductance regulator deficiency exacerbates islet cell dysfunction after beta-cell injury. Stalvey MS, etal., Diabetes. 2006 Jul;55(7):1939-45.
68. The CFTR M470V gene variant as a potential modifier of COPD severity: study of Serbian population. Stankovic M, etal., Genet Test. 2008 Sep;12(3):357-62.
69. Genomewide association analysis of respiratory syncytial virus infection in mice. Stark JM, etal., J Virol. 2010 Mar;84(5):2257-69. Epub 2009 Dec 16.
70. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. Thauvin-Robinet C, etal., J Med Genet. 2009 Nov;46(11):752-8. Epub 2009 Jun 29.
71. Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats. Tuggle KL, etal., PLoS One. 2014 Mar 7;9(3):e91253. doi: 10.1371/journal.pone.0091253. eCollection 2014.
72. Protective role of cardiac CFTR activation upon early reperfusion against myocardial infarction. Uramoto H, etal., Cell Physiol Biochem. 2012;30(4):1023-38. doi: 10.1159/000341479. Epub 2012 Sep 20.
73. Ischemia-induced enhancement of CFTR expression on the plasma membrane in neonatal rat ventricular myocytes. Uramoto H, etal., Jpn J Physiol. 2003 Oct;53(5):357-65.
74. Susceptibility to typhoid fever is associated with a polymorphism in the cystic fibrosis transmembrane conductance regulator (CFTR). van de Vosse E, etal., Hum Genet. 2005 Oct;118(1):138-40. doi: 10.1007/s00439-005-0005-0. Epub 2005 Oct 28.
75. Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation. Varon R, etal., Hum Mutat. 1995;6(3):219-25.
76. Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. Wang X, etal., Arch Otolaryngol Head Neck Surg. 2005 Mar;131(3):237-40.
77. [Effects of weile powder on bicarbonate transporters CFTR SLC26A3 and SLC26A6 in gastric ulcers of rats]. Wen GR, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2013 Jan;33(1):81-4.
78. Down-regulated CFTR During Aging Contributes to Benign Prostatic Hyperplasia. Xie C, etal., J Cell Physiol. 2015 Aug;230(8):1906-15. doi: 10.1002/jcp.24921.
79. Homocysteine activates autophagy by inhibition of CFTR expression via interaction between DNA methylation and H3K27me3 in mouse liver. Yang A, etal., Cell Death Dis. 2018 Feb 7;9(2):169. doi: 10.1038/s41419-017-0216-z.
80. A mouse model for the delta F508 allele of cystic fibrosis. Zeiher BG, etal., J Clin Invest. 1995 Oct;96(4):2051-64.
Additional References at PubMed
PMID:1284480   PMID:1284640   PMID:1355249   PMID:1377165   PMID:1380724   PMID:1382232   PMID:1385049   PMID:1712752   PMID:1716243   PMID:1717363   PMID:1720548   PMID:2475911  
PMID:7482032   PMID:7491981   PMID:7504552   PMID:7505691   PMID:7508188   PMID:7510877   PMID:7515571   PMID:7518307   PMID:7518412   PMID:7524148   PMID:7526924   PMID:7527588  
PMID:7533607   PMID:7534985   PMID:7537458   PMID:7540910   PMID:7544595   PMID:7545404   PMID:7545494   PMID:7556083   PMID:7558022   PMID:7681548   PMID:7685652   PMID:7689012  
PMID:7691356   PMID:7714835   PMID:7864068   PMID:7949729   PMID:8048488   PMID:8268652   PMID:8281012   PMID:8547326   PMID:8589719   PMID:8605891   PMID:8679216   PMID:8708137  
PMID:8760045   PMID:8769845   PMID:8823295   PMID:8827771   PMID:8827772   PMID:8875228   PMID:8889548   PMID:8889551   PMID:8918588   PMID:9006067   PMID:9097955   PMID:9113507  
PMID:9124365   PMID:9124520   PMID:9142920   PMID:9215687   PMID:9247472   PMID:9250667   PMID:9277342   PMID:9277371   PMID:9277402   PMID:9387959   PMID:9399953   PMID:9466991  
PMID:9563748   PMID:9573345   PMID:9613608   PMID:9688648   PMID:9705235   PMID:9739054   PMID:9819365   PMID:9835624   PMID:9843919   PMID:9922382   PMID:10203138   PMID:10348821  
PMID:10349636   PMID:10444458   PMID:10524221   PMID:10556281   PMID:10570187   PMID:10615064   PMID:10618651   PMID:10655503   PMID:10666041   PMID:10678637   PMID:10722612   PMID:10725749  
PMID:10792952   PMID:10835327   PMID:10878096   PMID:10913005   PMID:10926557   PMID:10930443   PMID:11034402   PMID:11042159   PMID:11076312   PMID:11076861   PMID:11102538   PMID:11161838  
PMID:11217851   PMID:11256068   PMID:11287183   PMID:11352827   PMID:11356077   PMID:11356184   PMID:11404242   PMID:11504857   PMID:11518680   PMID:11557509   PMID:11597137   PMID:11606508  
PMID:11707776   PMID:11726399   PMID:11815669   PMID:11823525   PMID:11904291   PMID:11942920   PMID:11978765   PMID:11988083   PMID:12068373   PMID:12110684   PMID:12161463   PMID:12164788  
PMID:12194970   PMID:12226741   PMID:12403779   PMID:12441405   PMID:12461645   PMID:12461646   PMID:12466851   PMID:12475744   PMID:12476034   PMID:12482874   PMID:12529261   PMID:12563314  
PMID:12578988   PMID:12651871   PMID:12692180   PMID:12709507   PMID:12787792   PMID:12834868   PMID:12837761   PMID:12917688   PMID:12936909   PMID:14313821   PMID:14515130   PMID:14517798  
PMID:14529837   PMID:14656222   PMID:14673110   PMID:14679199   PMID:14681479   PMID:14685259   PMID:14715526   PMID:14739145   PMID:14759515   PMID:14764916   PMID:14977953   PMID:14978203  
PMID:15007059   PMID:15025858   PMID:15028554   PMID:15033444   PMID:15039235   PMID:15064229   PMID:15064232   PMID:15102331   PMID:15105504   PMID:15246977   PMID:15261163   PMID:15279681  
PMID:15284023   PMID:15289377   PMID:15336594   PMID:15385508   PMID:15466369   PMID:15480994   PMID:15513933   PMID:15528257   PMID:15619636   PMID:15696103   PMID:15731086   PMID:15784597  
PMID:15921521   PMID:16014420   PMID:16037545   PMID:16083720   PMID:16093421   PMID:16099848   PMID:16141072   PMID:16141073   PMID:16184195   PMID:16195538   PMID:16311240   PMID:16361259  
PMID:16418321   PMID:16455659   PMID:16470247   PMID:16472605   PMID:16481627   PMID:16527813   PMID:16537650   PMID:16571105   PMID:16614351   PMID:16626699   PMID:16740913   PMID:16763223  
PMID:16816357   PMID:16825704   PMID:16888286   PMID:16919538   PMID:16921366   PMID:17015704   PMID:17053783   PMID:17064416   PMID:17085523   PMID:17108316   PMID:17178714   PMID:17204498  
PMID:17272824   PMID:17290033   PMID:17347851   PMID:17363465   PMID:17395634   PMID:17428842   PMID:17506901   PMID:17519339   PMID:17546509   PMID:17588945   PMID:17615175   PMID:17615178  
PMID:17615287   PMID:17656682   PMID:17873061   PMID:17913891   PMID:17936375   PMID:17947234   PMID:17983806   PMID:17988958   PMID:18006890   PMID:18054564   PMID:18086811   PMID:18239192  
PMID:18263667   PMID:18272502   PMID:18285349   PMID:18325992   PMID:18369642   PMID:18372427   PMID:18376404   PMID:18400105   PMID:18436622   PMID:18456231   PMID:18457676   PMID:18458238  
PMID:18462959   PMID:18474670   PMID:18509672   PMID:18583713   PMID:18601749   PMID:18776130   PMID:18779379   PMID:18790990   PMID:18799693   PMID:18801913   PMID:18802965   PMID:18805957  
PMID:18931049   PMID:18955860   PMID:19033647   PMID:19059886   PMID:19085568   PMID:19121635   PMID:19133329   PMID:19136563   PMID:19164484   PMID:19168702   PMID:19172182   PMID:19221439  
PMID:19244203   PMID:19321738   PMID:19344509   PMID:19363029   PMID:19420138   PMID:19423715   PMID:19439224   PMID:19535511   PMID:19562038   PMID:19633071   PMID:19649303   PMID:19726884  
PMID:19837664   PMID:19843093   PMID:19878303   PMID:19906953   PMID:19927121   PMID:20004757   PMID:20026617   PMID:20049895   PMID:20110398   PMID:20138822   PMID:20154695   PMID:20164375  
PMID:20178459   PMID:20231275   PMID:20231442   PMID:20309575   PMID:20351045   PMID:20351096   PMID:20351190   PMID:20400957   PMID:20413542   PMID:20418361   PMID:20429932   PMID:20430874  
PMID:20442264   PMID:20478977   PMID:20487541   PMID:20489160   PMID:20522639   PMID:20522641   PMID:20551307   PMID:20566636   PMID:20566682   PMID:20616379   PMID:20616615   PMID:20624691  
PMID:20693405   PMID:20711182   PMID:20724552   PMID:20929715   PMID:20969732   PMID:21068358   PMID:21068693   PMID:21078296   PMID:21135173   PMID:21135815   PMID:21220348   PMID:21267068  
PMID:21282332   PMID:21285372   PMID:21301926   PMID:21303908   PMID:21304986   PMID:21317537   PMID:21333573   PMID:21420082   PMID:21438071   PMID:21518732   PMID:21525256   PMID:21593379  
PMID:21625623   PMID:21658634   PMID:21659619   PMID:21712022   PMID:21721139   PMID:21743028   PMID:21765217   PMID:21873635   PMID:21884936   PMID:21913191   PMID:21930781   PMID:21976599  
PMID:22003093   PMID:22005837   PMID:22038833   PMID:22210114   PMID:22287709   PMID:22301109   PMID:22314397   PMID:22370478   PMID:22381067   PMID:22403785   PMID:22438829   PMID:22449949  
PMID:22510086   PMID:22523395   PMID:22534621   PMID:22538405   PMID:22552906   PMID:22572847   PMID:22664907   PMID:22679000   PMID:22679004   PMID:22700823   PMID:22711878   PMID:22802588  
PMID:22833409   PMID:22846720   PMID:22859830   PMID:22895259   PMID:22937152   PMID:22985691   PMID:22989883   PMID:23045527   PMID:23178238   PMID:23178930   PMID:23226399   PMID:23239501  
PMID:23269368   PMID:23290341   PMID:23316067   PMID:23377346   PMID:23505426   PMID:23520314   PMID:23523785   PMID:23542070   PMID:23606537   PMID:23626828   PMID:23645634   PMID:23734196  
PMID:23784542   PMID:23818690   PMID:23986201   PMID:24058532   PMID:24080196   PMID:24097557   PMID:24106801   PMID:24141140   PMID:24204804   PMID:24236172   PMID:24251786   PMID:24303840  
PMID:24367540   PMID:24373976   PMID:24400140   PMID:24529904   PMID:24671173   PMID:24801204   PMID:24885604   PMID:24898584   PMID:24914548   PMID:24925982   PMID:24965066   PMID:25012520  
PMID:25085879   PMID:25107366   PMID:25114233   PMID:25158854   PMID:25184794   PMID:25201511   PMID:25239913   PMID:25271146   PMID:25331955   PMID:25350163   PMID:25500839   PMID:25557910  
PMID:25641604   PMID:25642775   PMID:25646474   PMID:25674010   PMID:25680200   PMID:25747701   PMID:25778108   PMID:25794013   PMID:25829545   PMID:25840995   PMID:26060255   PMID:26077908  
PMID:26092868   PMID:26183966   PMID:26199136   PMID:26209275   PMID:26283735   PMID:26289599   PMID:26365583   PMID:26403673   PMID:26469863   PMID:26542396   PMID:26604306   PMID:26625901  
PMID:26683699   PMID:26709821   PMID:26751771   PMID:26754178   PMID:26769674   PMID:26823428   PMID:26851259   PMID:26883959   PMID:26893158   PMID:26911344   PMID:26972847   PMID:27035618  
PMID:27301931   PMID:27313231   PMID:27468800   PMID:27483469   PMID:27493027   PMID:27496898   PMID:27663991   PMID:27744011   PMID:27832634   PMID:27834195   PMID:27834953   PMID:28079883  
PMID:28090087   PMID:28213469   PMID:28273890   PMID:28384265   PMID:28394330   PMID:28495756   PMID:28552668   PMID:28615349   PMID:28623308   PMID:28701694   PMID:28883468   PMID:28963502  
PMID:28968805   PMID:28977595   PMID:28994389   PMID:29021150   PMID:29143340   PMID:29204121   PMID:29246444   PMID:29305607   PMID:29326073   PMID:29393851   PMID:29423078   PMID:29467455  
PMID:29675451   PMID:29742432   PMID:29752334   PMID:29761302   PMID:29856782   PMID:29860639   PMID:29877096   PMID:29915289   PMID:29924856   PMID:30004386   PMID:30013481   PMID:30050452  
PMID:30069044   PMID:30069046   PMID:30118317   PMID:30118352   PMID:30120123   PMID:30136610   PMID:30297908   PMID:30333319   PMID:30639531   PMID:30653340   PMID:30659401   PMID:30704755  
PMID:30838872   PMID:30892081   PMID:30985893   PMID:31145101   PMID:31211618   PMID:31251792   PMID:31263421   PMID:31270271   PMID:31285458   PMID:31311988   PMID:31375720   PMID:31413336  
PMID:31470114   PMID:31477092   PMID:31657788   PMID:31894837   PMID:31922900   PMID:31961827   PMID:31961914   PMID:31985038   PMID:31998800   PMID:32286221   PMID:32325033   PMID:32443586  
PMID:32528461   PMID:32531843   PMID:32581705   PMID:32722648   PMID:33004910   PMID:33139382   PMID:33208364   PMID:33264332   PMID:33412572   PMID:33659254   PMID:33682322   PMID:33692105  
PMID:33839155   PMID:33859001   PMID:33921231   PMID:33944911   PMID:33994481   PMID:34054509   PMID:34261337   PMID:34329764   PMID:34385926   PMID:34473378   PMID:34475490   PMID:34579569  
PMID:34587656   PMID:34609282   PMID:34707004   PMID:34830048   PMID:34847078   PMID:34878935   PMID:34994155   PMID:35031577   PMID:35173044   PMID:35317058   PMID:35392567   PMID:35413967  
PMID:35449374   PMID:35581352   PMID:35665694   PMID:35668939   PMID:36088207   PMID:36378343   PMID:36454086   PMID:36475904   PMID:36754244   PMID:37108596  


Genomics

Comparative Map Data
Cftr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39618,170,686 - 18,322,769 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl618,170,686 - 18,322,767 (+)EnsemblGRCm39 Ensembl
GRCm38618,170,687 - 18,322,770 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl618,170,687 - 18,322,768 (+)EnsemblGRCm38mm10GRCm38
MGSCv37618,120,687 - 18,272,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36618,120,687 - 18,272,767 (+)NCBIMGSCv36mm8
Celera618,244,038 - 18,394,318 (+)NCBICelera
Cytogenetic Map6A2NCBI
cM Map68.1NCBI
CFTR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7117,287,120 - 117,715,971 (+)EnsemblGRCh38hg38GRCh38
GRCh377117,120,079 - 117,308,719 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367116,907,253 - 117,095,955 (+)NCBINCBI36Build 36hg18NCBI36
Build 347116,713,967 - 116,902,666NCBI
Celera7111,928,196 - 112,116,895 (+)NCBICelera
Cytogenetic Map7q31.2NCBI
HuRef7111,485,640 - 111,674,189 (+)NCBIHuRef
CHM1_17117,053,369 - 117,242,163 (+)NCBICHM1_1
T2T-CHM13v2.07118,795,361 - 118,984,026 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27116,515,451 - 116,704,154 (+)NCBI
Cftr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2446,561,269 - 46,728,759 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl446,560,885 - 46,728,756 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx451,555,445 - 51,722,327 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0447,476,543 - 47,643,463 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0445,898,615 - 46,060,553 (+)NCBIRnor_WKY
Rnor_6.0442,693,263 - 42,860,679 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl442,692,836 - 42,860,676 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0442,281,040 - 42,448,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4443,874,852 - 44,041,870 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1444,147,212 - 44,195,889 (+)NCBI
Celera441,826,966 - 41,988,614 (+)NCBICelera
Cytogenetic Map4q21NCBI
Cftr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543223,178,866 - 23,328,382 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543223,179,645 - 23,328,347 (+)NCBIChiLan1.0ChiLan1.0
CFTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan176,319,752 - 6,503,110 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07109,449,847 - 109,633,023 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17122,144,821 - 122,327,511 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7122,129,798 - 122,327,864 (+)Ensemblpanpan1.1panPan2
CFTR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11456,290,417 - 56,452,919 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1456,290,275 - 56,453,977 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1455,685,755 - 55,848,173 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01456,330,071 - 56,492,372 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1456,329,929 - 56,492,482 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11456,368,632 - 56,531,008 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01456,049,412 - 56,212,168 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01456,421,094 - 56,583,513 (+)NCBIUU_Cfam_GSD_1.0
Cftr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511844,970,647 - 45,124,331 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365891,565,933 - 1,719,208 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CFTR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1828,627,728 - 28,817,950 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11828,627,717 - 28,818,209 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21830,396,465 - 30,566,680 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CFTR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12186,154,313 - 86,332,436 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604217,387,997 - 17,576,802 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cftr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248271,704,733 - 1,893,579 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Cftr
5194 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4367
Count of miRNA genes:809
Interacting mature miRNAs:1129
Transcripts:ENSMUST00000045706, ENSMUST00000115405, ENSMUST00000115406, ENSMUST00000129452, ENSMUST00000140407, ENSMUST00000140532
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
14746985Manh59_mmandible shape 59 (mouse)6120847193Mouse
1301178Lith10_mlithogenic gene 10 (mouse)Not determined6121465015Mouse
10043884Bhr8_mbronchial hyperresponsiveness 8 (mouse)Not determined6121465015Mouse
10044000Mobq9_mmultigenetic obesity QTL 9 (mouse)Not determined6121465015Mouse
1357503Nhdlq5_mnon-HDL QTL 5 (mouse)Not determined6121465015Mouse
12904934Edlmmq4_mextensor digitorum longus muscle mass QTL 4 (mouse)6125514064Mouse
12904942Tammq3_mtibialis anterior muscle mass QTL 3 (mouse)6125514064Mouse
12904955Gmmq3_mgastrocnemius muscle mass QTL 3 (mouse)6125514064Mouse
1301131Chol2_mcholesterol 2 (mouse)Not determined6132144495Mouse
5491191Mobq2_mmultigenic obesity QTL 2 (mouse)Not determined6132144495Mouse
1302024Skull7_mskull morphology 7 (mouse)Not determined6132144495Mouse
15039372Nmrs22_mNAFLD-associated magnetic resonance shift 22 (mouse)6147633435476334Mouse
25440480Moaq2_mmodifier of alien QTL 2 (mouse)63050001117476961Mouse
26884414Bzwq12_mbi-zygomatic width QTL 12, 16 week (mouse)63400000139076998Mouse
1300731Smdq3_msegregation of mitochondrial DNA QTL 3 (mouse)Not determined6424920638249325Mouse
1300556Cia6_mcollagen induced arthritis QTL 6 (mouse)Not determined6446488487403016Mouse
11353836Bmiq1_mbody mass index QTL 1 (mouse)6450382329751333Mouse
11353840Bmiq2_mbody mass index QTL 2 (mouse)6450382345291115Mouse
1357520Axtq2_manxiety QTL 2 (mouse)Not determined6450382348703611Mouse
1357481Aaj2_manxiety in A/J 2 (mouse)Not determined6450382348703611Mouse
11353841Bmiq3_mbody mass index QTL 3 (mouse)6450382348703611Mouse
4142271Egq8_mearly growth QTL 8 (mouse)Not determined450382396633110Mouse
4142232W6q4_mweight 6 weeks QTL 4 (mouse)Not determined450382396633110Mouse
4142126W3q3_mweight 3 weeks QTL 3 (mouse)Not determined450382396633110Mouse
4142361W10q11_mweight 10 weeks QTL 11 (mouse)Not determined450382396633110Mouse
26884441Sklq3_mskull length QTL 3, 5 week (mouse)6760000080576983Mouse
1302051Sluc7_msusceptibility to lung cancer 7 (mouse)Not determined6929707443297168Mouse
10043869Cia6a_mcollagen induced arthritis QTL 6a (mouse)Not determined61211797146118069Mouse
4141749Obrq2_mobesity resistance QTL 2 (mouse)Not determined1275122146751333Mouse
1301998Bts2_mbladder tumor susceptibility 2 (mouse)Not determined61275122146751333Mouse
27226726Tibmd7_mtibia midshaft diameter 7, 16 week (mouse)61769999953476985Mouse
1301850Fglu_mfasting glucose (mouse)Not determined61771159851711719Mouse
1301724Pcd4ts1_mp-glycoprotein positive CD4 T cell subset 1 (mouse)Not determined61771159851711719Mouse
4140989Spqq2_msperm quality QTL 2 (mouse)Not determined1771159851711719Mouse
1357442Dbts1_mdiabetes 1 (mouse)Not determined61823414773364675Mouse

Markers in Region
34.MMHAP67FLD4.seq  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,264,133 - 18,264,299UniSTSGRCm38
MGSCv37618,214,133 - 18,214,299UniSTSGRCm37
Celera618,337,473 - 18,337,639UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Whitehead_YAC6 UniSTS
M60493  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,321,404 - 18,321,596UniSTSGRCm38
MGSCv37618,271,404 - 18,271,596UniSTSGRCm37
Celera618,392,952 - 18,393,144UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Whitehead_YAC6 UniSTS
D6Mit236  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,234,148 - 18,234,291UniSTSGRCm38
MGSCv37618,184,148 - 18,184,291UniSTSGRCm37
Celera618,308,197 - 18,308,340UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Whitehead Genetic63.3UniSTS
AW495489  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,322,576 - 18,322,657UniSTSGRCm38
MGSCv37618,272,576 - 18,272,657UniSTSGRCm37
Celera618,394,124 - 18,394,205UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Cftr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
MGSCv37618,184,171 - 18,184,313UniSTSGRCm37
MGSCv37618,271,188 - 18,271,374UniSTSGRCm37
MGSCv37618,268,986 - 18,269,760UniSTSGRCm37
MGSCv37618,272,542 - 18,272,683UniSTSGRCm37
Celera618,394,090 - 18,394,231UniSTS
Celera618,392,736 - 18,392,922UniSTS
Celera618,390,534 - 18,391,308UniSTS
Celera618,308,220 - 18,308,362UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
cM Map63.1UniSTS
cM Map63.1UniSTS
cM Map63.1UniSTS
G63875  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,256,078 - 18,256,183UniSTSGRCm38
MGSCv37618,206,078 - 18,206,183UniSTSGRCm37
Celera618,329,418 - 18,329,523UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63877  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,231,765 - 18,231,940UniSTSGRCm38
MGSCv37618,181,765 - 18,181,940UniSTSGRCm37
Celera618,305,814 - 18,305,989UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63879  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,198,122 - 18,198,221UniSTSGRCm38
MGSCv37618,148,122 - 18,148,221UniSTSGRCm37
Celera618,272,134 - 18,272,233UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63882  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,299,709 - 18,299,932UniSTSGRCm38
MGSCv37618,249,709 - 18,249,932UniSTSGRCm37
Celera618,371,255 - 18,371,478UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63880  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,214,100 - 18,214,289UniSTSGRCm38
MGSCv37618,164,100 - 18,164,289UniSTSGRCm37
Celera618,288,176 - 18,288,365UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63874  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,209,287 - 18,209,399UniSTSGRCm38
MGSCv37618,159,287 - 18,159,399UniSTSGRCm37
Celera618,283,358 - 18,283,470UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63881  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,235,240 - 18,235,340UniSTSGRCm38
MGSCv37618,185,240 - 18,185,340UniSTSGRCm37
Celera618,309,290 - 18,309,390UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
G63883  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,320,839 - 18,321,004UniSTSGRCm38
MGSCv37618,270,839 - 18,271,004UniSTSGRCm37
Celera618,392,387 - 18,392,552UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Cftr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,322,542 - 18,322,683UniSTSGRCm38
MGSCv37618,272,542 - 18,272,683UniSTSGRCm37
Celera618,394,090 - 18,394,231UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Cftr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,321,188 - 18,321,374UniSTSGRCm38
MGSCv37618,271,188 - 18,271,374UniSTSGRCm37
Celera618,392,736 - 18,392,922UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
Cftr  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,234,171 - 18,234,313UniSTSGRCm38
MGSCv37618,184,171 - 18,184,313UniSTSGRCm37
Celera618,308,220 - 18,308,362UniSTS
Cytogenetic Map6A3UniSTS
cM Map63.1UniSTS
CFTR  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38618,318,986 - 18,319,760UniSTSGRCm38
MGSCv37618,268,986 - 18,269,760UniSTSGRCm37
Celera618,390,534 - 18,391,308UniSTS
Cytogenetic Map6A3UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_021050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC158663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC161826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE017189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF162137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK033621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK078912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY005797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M84614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000045706   ⟹   ENSMUSP00000049228
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,170,686 - 18,322,767 (+)Ensembl
GRCm38.p6 Ensembl618,170,687 - 18,322,768 (+)Ensembl
RefSeq Acc Id: ENSMUST00000115405   ⟹   ENSMUSP00000111064
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,170,686 - 18,322,766 (+)Ensembl
GRCm38.p6 Ensembl618,170,687 - 18,322,767 (+)Ensembl
RefSeq Acc Id: ENSMUST00000115406   ⟹   ENSMUSP00000111065
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,170,823 - 18,321,032 (+)Ensembl
GRCm38.p6 Ensembl618,170,824 - 18,321,033 (+)Ensembl
RefSeq Acc Id: ENSMUST00000129452   ⟹   ENSMUSP00000115334
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,170,770 - 18,236,654 (+)Ensembl
GRCm38.p6 Ensembl618,170,771 - 18,236,655 (+)Ensembl
RefSeq Acc Id: ENSMUST00000140407   ⟹   ENSMUSP00000116957
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,170,686 - 18,322,766 (+)Ensembl
GRCm38.p6 Ensembl618,170,687 - 18,322,767 (+)Ensembl
RefSeq Acc Id: ENSMUST00000140532
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl618,255,223 - 18,268,129 (+)Ensembl
GRCm38.p6 Ensembl618,255,224 - 18,268,130 (+)Ensembl
RefSeq Acc Id: NM_021050   ⟹   NP_066388
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39618,170,686 - 18,322,769 (+)NCBI
GRCm38618,170,687 - 18,322,770 (+)NCBI
MGSCv37618,120,687 - 18,272,770 (+)RGD
Celera618,244,038 - 18,394,318 (+)RGD
cM Map6 ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_066388   ⟸   NM_021050
- UniProtKB: Q9JKQ6 (UniProtKB/Swiss-Prot),   P26361 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000049228   ⟸   ENSMUST00000045706
RefSeq Acc Id: ENSMUSP00000115334   ⟸   ENSMUST00000129452
RefSeq Acc Id: ENSMUSP00000111065   ⟸   ENSMUST00000115406
RefSeq Acc Id: ENSMUSP00000111064   ⟸   ENSMUST00000115405
RefSeq Acc Id: ENSMUSP00000116957   ⟸   ENSMUST00000140407
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P26361-F1-model_v2 AlphaFold P26361 1-1476 view protein structure

Promoters
RGD ID:6889072
Promoter ID:EPDNEW_M7987
Type:initiation region
Name:Cftr_1
Description:Mus musculus cystic fibrosis transmembrane conductance regulator, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38618,170,750 - 18,170,810EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:88388 AgrOrtholog
Ensembl Genes ENSMUSG00000041301 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000049228 ENTREZGENE
  ENSMUSP00000049228.6 UniProtKB/Swiss-Prot
  ENSMUSP00000111064.3 UniProtKB/Swiss-Prot
  ENSMUSP00000111065.2 UniProtKB/TrEMBL
  ENSMUSP00000115334.3 UniProtKB/TrEMBL
  ENSMUSP00000116957.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000045706 ENTREZGENE
  ENSMUST00000045706.12 UniProtKB/Swiss-Prot
  ENSMUST00000115405.9 UniProtKB/Swiss-Prot
  ENSMUST00000115406.2 UniProtKB/TrEMBL
  ENSMUST00000129452.8 UniProtKB/TrEMBL
  ENSMUST00000140407.8 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CFTR/ABCC7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CFTR1_ATP-bd_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CFTR_reg_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:12638 UniProtKB/Swiss-Prot
MGD MGI:88388 ENTREZGENE
NCBI Gene 12638 ENTREZGENE
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24223:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CFTR_R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Cftr PhenoGen
PRINTS CYSFIBREGLTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs CFTR_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CFTR_MOUSE UniProtKB/Swiss-Prot
  E9PVD7_MOUSE UniProtKB/TrEMBL
  F6U9G7_MOUSE UniProtKB/TrEMBL
  P26361 ENTREZGENE
  P70163_MOUSE UniProtKB/TrEMBL
  P70164_MOUSE UniProtKB/TrEMBL
  Q9JKQ6 ENTREZGENE
UniProt Secondary Q63893 UniProtKB/Swiss-Prot
  Q63894 UniProtKB/Swiss-Prot
  Q9JKQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-07-10 Cftr  cystic fibrosis transmembrane conductance regulator  Cftr  cystic fibrosis transmembrane conductance regulator homolog  Symbol and/or name change 5135510 APPROVED