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

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Gene: Cftr (cystic fibrosis transmembrane conductance regulator) Mus musculus
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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 secretion by cell. 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)
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)
allethrin  (ISO)
amiloride  (EXP,ISO)
aminoguanidine  (ISO)
ammonium chloride  (ISO)
AMP-PNP  (ISO)
apigenin  (ISO)
arsane  (ISO)
arsenic atom  (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)
cyhalothrin  (ISO)
cypermethrin  (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)
fenvalerate  (ISO)
flufenamic acid  (ISO)
folic acid  (EXP)
fulvestrant  (ISO)
furan  (ISO)
geldanamycin  (ISO)
gemfibrozil  (EXP)
geneticin  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glufosinate  (EXP)
glutathione  (EXP,ISO)
glutathione disulfide  (ISO)
glyburide  (EXP,ISO)
glycidol  (ISO)
Guanylin  (ISO)
gusperimus  (ISO)
heptan-1-ol  (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)
prothioconazole  (EXP)
pyrethrins  (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 transmembrane transport  (IEA)
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 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)
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.
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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
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51. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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56. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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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
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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.p14 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
GRCr8447,422,084 - 47,694,646 (+)NCBIGRCr8
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_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0447,476,543 - 47,643,463 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0445,898,615 - 46,060,553 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 Map4q22NCBI
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_mPanPan1-v26154,309,496 - 154,492,867 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan176,319,752 - 6,503,124 (+)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

RefSeq Acc Id: ENSMUST00000045706   ⟹   ENSMUSP00000049228
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
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
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
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
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
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:
RefSeq Acc Id: NP_066388   ⟸   NM_021050
- UniProtKB: Q63894 (UniProtKB/Swiss-Prot),   Q63893 (UniProtKB/Swiss-Prot),   Q9JKQ6 (UniProtKB/Swiss-Prot),   P26361 (UniProtKB/Swiss-Prot),   E9PVD7 (UniProtKB/TrEMBL)
- 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 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 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
UniProt CFTR_MOUSE UniProtKB/Swiss-Prot
  E9PVD7 ENTREZGENE, UniProtKB/TrEMBL
  F6U9G7_MOUSE UniProtKB/TrEMBL
  P26361 ENTREZGENE
  P70163_MOUSE UniProtKB/TrEMBL
  P70164_MOUSE UniProtKB/TrEMBL
  Q63893 ENTREZGENE
  Q63894 ENTREZGENE
  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