Cftr (CF transmembrane conductance regulator) - Rat Genome Database

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Gene: Cftr (CF transmembrane conductance regulator) Rattus norvegicus
Symbol: Cftr
Name: CF transmembrane conductance regulator
RGD ID: 2332
Description: Predicted to enable several functions, including ATP hydrolysis activity; PDZ domain binding activity; and Sec61 translocon complex binding activity. Involved in several processes, including bicarbonate transport; cellular response to anoxia; and regulation of cell development. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and microvillus. Colocalizes with early endosome. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. 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); PARTICIPATES IN bile acid transport pathway; INTERACTS WITH 17beta-estradiol; 3',5'-cyclic AMP; 3-isobutyl-1-methyl-7H-xanthine.
Type: protein-coding
Previously known as: ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator homolog; cystic fibrosis transmembrane conductance regulator homolog (human); LOC500041; RGD1561193; similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Cftrem1Sage   Cftrem1Ang   Cftrem2Ang  
Genetic Models: SD-Cftrem1Ang SD-Cftrem2Ang SD-Cftrem1Sage+/- SD-Cftrem1Sage-/-
Is Marker For: Strains:   BB/OK  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
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
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
alcoholic pancreatitis  (ISO)
allergic bronchopulmonary aspergillosis  (ISO)
Alzheimer's disease  (ISO)
aspergillosis  (ISO)
asthma  (ISO)
autism spectrum disorder  (ISO)
autosomal recessive congenital bilateral absence of vas deferens  (ISO)
autosomal recessive polycystic kidney disease  (IEP,ISO)
azoospermia  (ISO)
Breast Neoplasms  (ISO)
bronchiectasis  (ISO)
bronchiectasis 1  (ISO)
choledochal cyst  (ISO)
cholelithiasis  (ISO)
cholestasis  (IEP)
Chronic Bronchitis  (ISO)
chronic obstructive pulmonary disease  (ISO)
Chronic Pancreatitis  (ISO)
Colorectal Neoplasms  (ISO)
congenital bilateral absence of vas deferens  (IMP,ISO)
cryptorchidism  (ISO)
cystic fibrosis  (IMP,ISO,ISS)
dental enamel hypoplasia  (IMP)
Diaphragmatic Hernia  (ISO)
duodenal atresia  (ISO)
duodenal ulcer  (IDA)
exocrine pancreatic insufficiency  (ISO)
Experimental Diabetes Mellitus  (ISO)
gastric ulcer  (IDA)
genetic disease  (ISO)
Hereditary Pancreatitis  (ISO)
Hypertriglyceridemia  (ISO)
infertility  (ISO)
influenza  (ISO)
Liver Injury  (ISO)
lung cancer  (ISO)
lung disease  (ISO)
male infertility  (ISO)
megacolon  (ISO)
Metabolic Bone Diseases  (ISO)
myocardial infarction  (ISO)
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  (ISO)
pulmonary sarcoidosis  (ISO)
renal agenesis  (ISO)
renal cell carcinoma  (ISO)
Renal Cell Carcinoma 1  (ISO)
respiratory syncytial virus infectious disease  (ISO)
rhinitis  (ISO)
salpingitis  (IEP,ISO)
schizophrenia  (ISO)
sinusitis  (ISO)
Staphylococcal Pneumonia  (ISO)
substance-related disorder  (ISO)
tracheal disease  (ISO)
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  (ISO)
1,4-dithiothreitol  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (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  (ISO)
4-phenylbutyric acid  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
5-Nitro-2-(3-phenylpropylamino)benzoic acid  (EXP,ISO)
6-propyl-2-thiouracil  (EXP)
8-(4-chlorophenylthio)-cAMP  (ISO)
9-anthroic acid  (ISO)
acetamide  (EXP)
acivicin  (ISO)
adenosine  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (EXP)
all-trans-retinoic acid  (ISO)
allethrin  (EXP)
amiloride  (EXP,ISO)
aminoguanidine  (ISO)
ammonium chloride  (EXP)
apigenin  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
atrazine  (EXP)
baclofen  (ISO)
baicalein  (ISO)
belinostat  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (EXP,ISO)
brefeldin A  (ISO)
brimonidine tartrate  (ISO)
bumetanide  (ISO)
cadmium atom  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
CGP 12177  (ISO)
chelerythrine  (ISO)
chlorothalonil  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cilostazol  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
Cuprizon  (EXP)
curcumin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (ISO)
cyhalothrin  (EXP)
cypermethrin  (EXP)
decan-1-ol  (ISO)
desmopressin  (ISO)
dextran sulfate  (ISO)
dibromine  (ISO)
dichlorine  (EXP,ISO)
diethylstilbestrol  (ISO)
diprotium oxide  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
enilconazole  (ISO)
ethanol  (ISO)
fenamic acid  (EXP,ISO)
fenvalerate  (EXP)
flufenamic acid  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
furan  (EXP)
geldanamycin  (ISO)
gemfibrozil  (ISO)
geneticin  (ISO)
genistein  (EXP,ISO)
gentamycin  (EXP,ISO)
glufosinate  (ISO)
glutathione  (ISO)
glutathione disulfide  (ISO)
glyburide  (EXP,ISO)
glycidol  (EXP)
Guanylin  (EXP)
gusperimus  (ISO)
heptan-1-ol  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydrogencarbonate  (ISO)
inulin  (ISO)
iodide salt  (ISO)
ionomycin  (EXP)
irinotecan  (EXP)
iron(III) citrate  (ISO)
isoprenaline  (EXP,ISO)
ivacaftor  (ISO)
kaempferol  (ISO)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lithium chloride  (ISO)
lonidamine  (EXP,ISO)
lumacaftor  (ISO)
LY294002  (ISO)
manganese(II) chloride  (EXP)
medetomidine  (ISO)
mercury dibromide  (ISO)
methacholine chloride  (ISO)
miglustat  (ISO)
milrinone  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP,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  (ISO)
naringin  (ISO)
nickel atom  (ISO)
Niflumic acid  (ISO)
nimodipine  (ISO)
nitrates  (ISO)
nitric oxide  (EXP)
nocodazole  (EXP,ISO)
octan-1-ol  (ISO)
octan-2-ol  (ISO)
okadaic acid  (ISO)
omeprazole  (ISO)
osimertinib  (ISO)
ozone  (ISO)
P(1),P(5)-bis(5'-adenosyl) pentaphosphate  (ISO)
p-chloromercuribenzoic acid  (ISO)
papaverine  (ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylephrine  (EXP)
phenylmercury acetate  (ISO)
phloretin  (EXP)
phosphoramide mustard  (EXP)
primaquine  (EXP)
procymidone  (ISO)
progesterone  (EXP,ISO)
prothioconazole  (ISO)
pyrethrins  (EXP)
quercetin  (EXP,ISO)
resveratrol  (ISO)
roflumilast  (ISO)
rolipram  (ISO)
S-nitrosoglutathione  (ISO)
Salmeterol xinafoate  (ISO)
SB 431542  (ISO)
serotonin  (ISO)
sildenafil citrate  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP)
sodium arsenite  (ISO)
sodium atom  (ISO)
sodium iodide  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
taurocholic acid  (ISO)
taurolithocholic acid sulfate  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (EXP,ISO)
thapsigargin  (ISO)
thiocyanate  (ISO)
thiourea  (EXP)
titanium dioxide  (EXP,ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (ISO)
vasopressin  (ISO)
vasotocin  (ISO)
water  (EXP)
wortmannin  (ISO)
xanthohumol  (ISO)
zinc atom  (EXP,ISO)
zinc dichloride  (ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View

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. Estrogen-induced abnormally high cystic fibrosis transmembrane conductance regulator expression results in ovarian hyperstimulation syndrome. Ajonuma LC, etal., Mol Endocrinol. 2005 Dec;19(12):3038-44. Epub 2005 Jul 28.
4. 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.
5. 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.
6. Subcellular distribution of CFTR in rat intestine supports a physiologic role for CFTR regulation by vesicle traffic. Ameen NA, etal., Histochem Cell Biol 2000 Sep;114(3):219-28.
7. 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.
8. 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.
9. 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.
10. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Burgel PR, etal., Clin Genet. 2010 Apr;77(4):355-64. Epub 2009 Oct 15.
11. 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.
12. 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.
13. 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.
14. 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.
15. Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Cleveland RH, etal., Radiology. 2009 Dec;253(3):813-21.
16. Pathophysiologic consequences following inhibition of a CFTR-dependent developmental cascade in the lung. Cohen JC and Larson JE, BMC Dev Biol. 2005 Feb 4;5:2.
17. Familial clustering of pulmonary nontuberculous mycobacterial disease. Colombo RE, etal., Chest. 2010 Mar;137(3):629-34. Epub 2009 Oct 26.
18. 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.
19. Genetic and biochemical markers of obstructive lung disease in the general population. Dahl M Clin Respir J. 2009 Apr;3(2):121-2.
20. 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.
21. 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.
22. Thyroid hormones stimulate renal expression of CFTR. de Andrade Pinto AC, etal., Cell Physiol Biochem. 2007;20(1-4):83-90.
23. 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.
24. Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator delta f508. DeCarvalho AC, etal., J Biol Chem 2002 Sep 27;277(39):35896-905. Epub 2002 Jul 10.
25. 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.
26. 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.
27. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Dork T, etal., Hum Genet. 1992 Nov;90(3):279-84.
28. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Dork T, etal., Hum Genet. 1997 Sep;100(3-4):365-77.
29. 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.
30. 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.
31. A cystic fibrosis mutation associated with mild lung disease. Gan KH, etal., N Engl J Med. 1995 Jul 13;333(2):95-9.
32. 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.
33. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
34. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
35. Denopamine stimulates alveolar fluid clearance via cystic fibrosis transmembrane conductance regulator in rat lungs. Gu X, etal., Respirology. 2006 Sep;11(5):566-71.
36. 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.
37. 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.
38. 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.
39. Roles of CLCA and CFTR in electrolyte re-absorption from rat saliva. Ishibashi K, etal., J Dent Res. 2006 Dec;85(12):1101-5.
40. 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.
41. Aquaporin-9 is expressed in rat Sertoli cells and interacts with the cystic fibrosis transmembrane conductance regulator. Jesus TT, etal., IUBMB Life. 2014 Sep;66(9):639-44. doi: 10.1002/iub.1312. Epub 2014 Oct 1.
42. Characteristics of Cl- uptake in rat alveolar type I cells. Johnson M, etal., Am J Physiol Lung Cell Mol Physiol. 2009 Nov;297(5):L816-27. Epub 2009 Aug 14.
43. 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.
44. 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.
45. 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.
46. 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.
47. 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.
48. Detection of CFTR gene mutations in patients suffering from chronic bronchitis. Kostuch M, etal., Arch Med Res. 2000 Jan-Feb;31(1):97-100.
49. Expression and functional characterization of CFTR in mast cells. Kulka M, etal., J Leukoc Biol. 2002 Jan;71(1):54-64.
50. Differential regulation of cystic fibrosis transmembrane conductance regulator by interferon gamma in mast cells and epithelial cells. Kulka M, etal., J Pharmacol Exp Ther. 2005 Nov;315(2):563-70. Epub 2005 Jul 28.
51. 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.
52. 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.
53. 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.
54. 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.
55. 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.
56. 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.
57. Cystic fibrosis transmembrane conductance regulator in the endolymphatic sac of the rat. Matsubara A, etal., Auris Nasus Larynx. 2014 Oct;41(5):409-12. doi: 10.1016/j.anl.2014.02.005. Epub 2014 Mar 2.
58. CFTR genotype as a predictor of prognosis in cystic fibrosis. McKone EF, etal., Chest. 2006 Nov;130(5):1441-7.
59. 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.
60. 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.
61. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
62. Lubiprostone stimulates duodenal bicarbonate secretion in rats. Mizumori M, etal., Dig Dis Sci. 2009 Oct;54(10):2063-9. Epub 2009 Aug 6.
63. Cystic fibrosis transmembrane conductance regulator protein expression in brain. Mulberg AE, etal., Neuroreport. 1994 Aug 15;5(13):1684-8.
64. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
65. 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.
66. Atrial natriuretic peptide modulates cystic fibrosis transmembrane conductance regulator chloride channel expression in rat proximal colon and human intestinal epithelial cells. Novaira HJ, etal., J Endocrinol. 2006 Apr;189(1):155-65.
67. Bicarbonate secretion by rat bile duct brush cells indicated by immunohistochemical localization of CFTR, anion exchanger AE2, Na+/HCO3 -cotransporter, carbonic anhydrase II, Na+/H+ exchangers NHE1 and NHE3, H+/K+-ATPase, and Na+/K+-ATPase. Ogata T Med Mol Morphol. 2006 Mar;39(1):44-8.
68. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
69. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene. Osborne L, etal., Hum Genet. 1992 Aug;89(6):653-8.
70. 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.
71. 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.
72. Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Pignatti PF, etal., Hum Mol Genet. 1995 Apr;4(4):635-9.
73. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
74. 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.
75. 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.
76. GOA pipeline RGD automated data pipeline
77. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
78. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
79. Comprehensive gene review and curation RGD comprehensive gene curation
80. Expression and function of cystic fibrosis transmembrane conductance regulator in rat intrapulmonary arteries. Robert R, etal., Eur Respir J. 2007 Nov;30(5):857-64. Epub 2007 Jun 27.
81. 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.
82. Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa. Sharma S, etal., J Mol Histol. 2018 Apr;49(2):195-208. doi: 10.1007/s10735-018-9759-2. Epub 2018 Feb 16.
83. 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.
84. 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.
85. 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.
86. An animal model for cystic fibrosis made by gene targeting. Snouwaert JN, etal., Science. 1992 Aug 21;257(5073):1083-8.
87. Cystic fibrosis transmembrane conductance regulator deficiency exacerbates islet cell dysfunction after beta-cell injury. Stalvey MS, etal., Diabetes. 2006 Jul;55(7):1939-45.
88. Reduced bone length, growth plate thickness, bone content, and IGF-I as a model for poor growth in the CFTR-deficient rat. Stalvey MS, etal., PLoS One. 2017 Nov 30;12(11):e0188497. doi: 10.1371/journal.pone.0188497. eCollection 2017.
89. 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.
90. 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.
91. 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.
92. Expression and regulation of the cystic fibrosis gene during rat liver regeneration. Tran-Paterson R, etal., Am J Physiol. 1992 Jul;263(1 Pt 1):C55-60.
93. 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.
94. 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.
95. 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.
96. Cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel and Na-K-Cl cotransporter NKCC1 isoform mediate the vasorelaxant action of genistein in isolated rat aorta. Valero MS, etal., Eur J Pharmacol. 2006 Aug 21;544(1-3):126-31. Epub 2006 Jun 28.
97. 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.
98. 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.
99. Independent amplification of two gene clusters on chromosome 4 in rat endometrial cancer: identification and molecular characterization. Walentinsson A, etal., Cancer Res 2001 Nov 15;61(22):8263-73.
100. A dual-color FISH gene map of the proximal region of rat Chromosome 4 and comparative analysis in human and mouse. Walentinsson A, etal., Mamm Genome 2001 Dec;12(12):900-8.
101. 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.
102. Subcellular localization of CFTR to endosomes in a ductal epithelium. Webster P, etal., Am J Physiol. 1994 Aug;267(2 Pt 1):C340-8.
103. [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.
104. 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.
105. 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.
106. A mouse model for the delta F508 allele of cystic fibrosis. Zeiher BG, etal., J Clin Invest. 1995 Oct;96(4):2051-64.
107. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) prevents apoptosis induced by hydrogen peroxide in basilar artery smooth muscle cells. Zeng JW, etal., Apoptosis. 2014 Sep;19(9):1317-29. doi: 10.1007/s10495-014-1014-z.
108. Small-molecule inhibitors of the cystic fibrosis transmembrane conductance regulator increase pancreatic endocrine cell development in rat and mouse. Zertal-Zidani S, etal., Diabetologia. 2013 Feb;56(2):330-9. doi: 10.1007/s00125-012-2778-8. Epub 2012 Nov 24.
Additional References at PubMed
PMID:1282491   PMID:7526924   PMID:8910473   PMID:9100367   PMID:9792704   PMID:11524016   PMID:11707463   PMID:11937500   PMID:12403779   PMID:12801959   PMID:14679199   PMID:15010471  
PMID:15020588   PMID:15107294   PMID:15247260   PMID:15872007   PMID:16207813   PMID:16311240   PMID:16537650   PMID:17085523   PMID:17194447   PMID:17462998   PMID:17546509   PMID:17916355  
PMID:18040894   PMID:18055461   PMID:18057956   PMID:18156603   PMID:18337312   PMID:18420826   PMID:18570918   PMID:18584958   PMID:18652671   PMID:18769035   PMID:18850051   PMID:19019741  
PMID:19033647   PMID:19244346   PMID:19398555   PMID:19621064   PMID:20231442   PMID:20351096   PMID:20658517   PMID:20819945   PMID:20844248   PMID:20974851   PMID:21063094   PMID:21151921  
PMID:21185916   PMID:21308994   PMID:21625623   PMID:21884936   PMID:21976599   PMID:22006324   PMID:22178883   PMID:22293084   PMID:22424353   PMID:23226244   PMID:23226939   PMID:23376485  
PMID:23645634   PMID:24095207   PMID:24657265   PMID:24770751   PMID:24885604   PMID:25747701   PMID:26018621   PMID:26529183   PMID:28067262   PMID:28130590   PMID:28825630   PMID:29761302  
PMID:29979606   PMID:30659401   PMID:31622498   PMID:32386453   PMID:32726160   PMID:33264332   PMID:33571554   PMID:33926975   PMID:35266910   PMID:35676569  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
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
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
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
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
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
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_00495543223,178,866 - 23,328,382 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543223,179,645 - 23,328,347 (+)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
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
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
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
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440511844,970,647 - 45,124,331 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365891,565,933 - 1,719,208 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
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
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
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
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla 1.0NW_0046248271,704,733 - 1,893,579 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Cftr
622 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:229
Count of miRNA genes:154
Interacting mature miRNAs:195
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

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

miRNA Target Status data imported from miRGate (
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
619616Bp79Blood pressure QTL 790.0292arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)4521460278882945Rat
2303168Bp330Blood pressure QTL 3304.250.017arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)45214602146446691Rat
2302371Stl22Serum triglyceride level QTL 225.15blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)4521829457114705Rat
1358203Stl19Serum triglyceride level QTL 192.80.002blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)4521829465958103Rat
631642Stl2Serum triglyceride level QTL 23.3blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)4521917856647776Rat
6478724Anxrr35Anxiety related response QTL 350.00449defecation behavior trait (VT:0010462)defecation measurement (CMO:0000997)41008408955084089Rat
6478766Anxrr47Anxiety related response QTL 470.09637locomotor behavior trait (VT:0001392)number of entries into a discrete space in an experimental apparatus (CMO:0000960)41008408955084089Rat
6478769Anxrr48Anxiety related response QTL 480.02514locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)41008408955084089Rat
8694374Bw155Body weight QTL 1553.390.001body lean mass (VT:0010483)lean tissue morphological measurement (CMO:0002184)41008408955084089Rat
9590304Scort17Serum corticosterone level QTL 174.960.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)41008408955084089Rat
8552906Pigfal3Plasma insulin-like growth factor 1 level QTL 3blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)41008408955084089Rat
631261Tcas3Tongue tumor susceptibility QTL 36.88tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)41081417091360527Rat
2316958Gluco58Glucose level QTL 5810blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)411320076180699135Rat
2303585Bw86Body weight QTL 864body mass (VT:0001259)body weight (CMO:0000012)41467806559678065Rat
2313401Anxrr27Anxiety related response QTL 27aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)41793350862933508Rat
61412Pia2Pristane induced arthritis QTL 23.9joint integrity trait (VT:0010548)post-insult time to onset of experimental arthritis (CMO:0001450)42133334362278020Rat
6909122Insul22Insulin level QTL 224.63blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)42690728575585128Rat
6909128Pancm4Pancreatic morphology QTL 411.35pancreas mass (VT:0010144)pancreas wet weight (CMO:0000626)42690728575585128Rat
8655906Rf60Renal function QTL 603.8blood creatinine amount (VT:0005328)creatinine clearance (CMO:0000765)42949419581006281Rat
12798520Anxrr55Anxiety related response QTL 554.450.01locomotor behavior trait (VT:0001392)number of rearing movements with lid-pushing in an experimental apparatus (CMO:0002715)432583980114627242Rat
11530004Niddm71Non-insulin dependent diabetes mellitus QTL 710.001blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)43258419952754138Rat
8552782Vie1Viral induced encephalitis QTL 126.4brain integrity trait (VT:0010579)encephalitis incidence/prevalence measurement (CMO:0002361)43443048482490359Rat
8552801Bw143Body weight QTL 1437.3body mass (VT:0001259)change in body weight to body weight ratio (CMO:0002216)43443048482490359Rat
8552809Vie5Viral induced encephalitis QTL 525.3brain integrity trait (VT:0010579)encephalitis incidence/prevalence measurement (CMO:0002361)43443048482490359Rat
8655961Kidm43Kidney mass QTL 4318kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)436303261103194984Rat
1358352Srcrt3Stress Responsive Cort QTL 32.29blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)438465774146803430Rat
61475Aia2Adjuvant induced arthritis QTL 25.8joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)43950527573892441Rat
1331807Rf31Renal function QTL 312.988urine potassium amount (VT:0010539)urine potassium level (CMO:0000128)43952426474726312Rat
1300139Hrtrt6Heart rate QTL 62.85heart pumping trait (VT:2000009)heart rate (CMO:0000002)439524264116179656Rat
61445Strs3Sensitivity to stroke QTL 33cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)44043338885433388Rat
8694439Bw168Body weight QTL 1689.570.001retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)44043341485433414Rat
6893678Bw108Body weight QTL 1082.60.006body mass (VT:0001259)body weight (CMO:0000012)44345797688457976Rat
1576305Emca6Estrogen-induced mammary cancer QTL 65.8mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)444463720155883716Rat
1354612Foco1Food consumption QTL 18.87eating behavior trait (VT:0001431)food intake rate (CMO:0000427)444463908148090542Rat
1354660Salc1Saline consumption QTL 111.26drinking behavior trait (VT:0001422)saline drink intake rate (CMO:0001627)444463908148090542Rat
2312567Glom19Glomerulus QTL 191.90.006kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)445456990146803430Rat

Markers in Region
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,727,191 - 46,727,354 (+)MAPPERmRatBN7.2
Rnor_6.0442,859,112 - 42,859,274NCBIRnor6.0
Rnor_5.0442,447,004 - 42,447,166UniSTSRnor5.0
RGSC_v3.4444,040,306 - 44,040,468UniSTSRGSC3.4
Celera441,987,050 - 41,987,212UniSTS
RH 3.4 Map4285.3UniSTS
RH 3.4 Map4285.3RGD
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,727,159 - 46,727,325 (+)MAPPERmRatBN7.2
Rnor_6.0442,859,080 - 42,859,245NCBIRnor6.0
Rnor_5.0442,446,972 - 42,447,137UniSTSRnor5.0
RGSC_v3.4444,040,274 - 44,040,439UniSTSRGSC3.4
Celera441,987,018 - 41,987,183UniSTS
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,724,999 - 46,725,753 (+)MAPPERmRatBN7.2
Rnor_6.0442,856,920 - 42,857,673NCBIRnor6.0
Rnor_5.0442,444,812 - 42,445,565UniSTSRnor5.0
RGSC_v3.4444,038,114 - 44,038,867UniSTSRGSC3.4
Celera441,984,858 - 41,985,611UniSTS
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,700,564 - 46,700,788 (+)MAPPERmRatBN7.2
Rnor_6.0442,832,485 - 42,832,708NCBIRnor6.0
Rnor_5.0442,420,377 - 42,420,600UniSTSRnor5.0
RGSC_v3.4444,013,679 - 44,013,902UniSTSRGSC3.4
Celera441,960,423 - 41,960,646UniSTS
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,612,845 - 46,613,035 (+)MAPPERmRatBN7.2
Rnor_6.0442,744,766 - 42,744,955NCBIRnor6.0
Rnor_5.0442,332,541 - 42,332,730UniSTSRnor5.0
RGSC_v3.4443,925,960 - 43,926,149UniSTSRGSC3.4
Celera441,872,523 - 41,872,712UniSTS
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,596,685 - 46,596,785 (+)MAPPERmRatBN7.2
Rnor_6.0442,728,606 - 42,728,705NCBIRnor6.0
Rnor_5.0442,316,381 - 42,316,480UniSTSRnor5.0
RGSC_v3.4443,909,800 - 43,909,899UniSTSRGSC3.4
Celera441,856,363 - 41,856,462UniSTS
Cytogenetic Map4q21UniSTS
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2446,634,705 - 46,634,806 (+)MAPPERmRatBN7.2
Rnor_6.0442,766,626 - 42,766,726NCBIRnor6.0
Rnor_5.0442,354,401 - 42,354,501UniSTSRnor5.0
RGSC_v3.4443,947,820 - 43,947,920UniSTSRGSC3.4
Celera441,894,279 - 41,894,379UniSTS
Cytogenetic Map4q21UniSTS

Related Rat Strains
The following Strains have been annotated to Cftr

Genetic Models
This gene Cftr is modified in the following models/strains:


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
Medium 3 1 7 3
Low 4 2 2 2 21 26 24 8
Below cutoff 32 36 23 17 23 8 8 25 8 9 8


RefSeq Acc Id: ENSRNOT00000085043   ⟹   ENSRNOP00000072565
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl446,560,885 - 46,728,756 (+)Ensembl
Rnor_6.0 Ensembl442,692,836 - 42,860,676 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000093789   ⟹   ENSRNOP00000097196
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl446,561,738 - 46,634,914 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000094086   ⟹   ENSRNOP00000089200
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl446,560,885 - 46,728,756 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000108292   ⟹   ENSRNOP00000085376
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl446,595,850 - 46,728,756 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000113457   ⟹   ENSRNOP00000094868
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl446,561,738 - 46,728,756 (+)Ensembl
RefSeq Acc Id: NM_031506   ⟹   NP_113694
Rat AssemblyChrPosition (strand)Source
mRatBN7.2446,561,738 - 46,728,756 (+)NCBI
Rnor_6.0442,693,658 - 42,860,676 (+)NCBI
Rnor_5.0442,281,040 - 42,448,571 (+)NCBI
RGSC_v3.4443,874,852 - 44,041,870 (+)RGD
Celera441,826,966 - 41,988,614 (+)RGD
RefSeq Acc Id: XM_006236097   ⟹   XP_006236159
Rat AssemblyChrPosition (strand)Source
mRatBN7.2446,561,270 - 46,728,759 (+)NCBI
Rnor_6.0442,693,263 - 42,860,679 (+)NCBI
Rnor_5.0442,281,040 - 42,448,571 (+)NCBI
RefSeq Acc Id: XM_039107006   ⟹   XP_038962934
Rat AssemblyChrPosition (strand)Source
mRatBN7.2446,561,269 - 46,728,759 (+)NCBI
RefSeq Acc Id: XM_039107007   ⟹   XP_038962935
Rat AssemblyChrPosition (strand)Source
mRatBN7.2446,561,270 - 46,728,759 (+)NCBI
RefSeq Acc Id: NP_113694   ⟸   NM_031506
- UniProtKB: Q2IBD3 (UniProtKB/Swiss-Prot),   P34158 (UniProtKB/Swiss-Prot),   A6IE40 (UniProtKB/TrEMBL),   A0A8I6AKF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006236159   ⟸   XM_006236097
- Peptide Label: isoform X1
- UniProtKB: A0A8I6AKF6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000072565   ⟸   ENSRNOT00000085043
RefSeq Acc Id: XP_038962934   ⟸   XM_039107006
- Peptide Label: isoform X2
- UniProtKB: I6LK15 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038962935   ⟸   XM_039107007
- Peptide Label: isoform X3
- UniProtKB: P34158 (UniProtKB/Swiss-Prot),   Q2IBD3 (UniProtKB/Swiss-Prot),   A6IE40 (UniProtKB/TrEMBL),   A0A8I6AKF6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000097196   ⟸   ENSRNOT00000093789
RefSeq Acc Id: ENSRNOP00000085376   ⟸   ENSRNOT00000108292
RefSeq Acc Id: ENSRNOP00000089200   ⟸   ENSRNOT00000094086
RefSeq Acc Id: ENSRNOP00000094868   ⟸   ENSRNOT00000113457
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P34158-F1-model_v2 AlphaFold P34158 1-1476 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:2332 AgrOrtholog
BioCyc Gene G2FUF-45541 BioCyc
Ensembl Genes ENSRNOG00000055103 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000085043 ENTREZGENE
  ENSRNOT00000085043.2 UniProtKB/TrEMBL
  ENSRNOT00000093789.1 UniProtKB/TrEMBL
  ENSRNOT00000094086.1 UniProtKB/TrEMBL
  ENSRNOT00000108292.1 UniProtKB/TrEMBL
  ENSRNOT00000113457.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL 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 rno:24255 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
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000055103 RatGTEx
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2K3B1_RAT UniProtKB/TrEMBL
  A0A8I6A376_RAT UniProtKB/TrEMBL
  CFTR_RAT UniProtKB/Swiss-Prot
  P97522_RAT UniProtKB/TrEMBL
UniProt Secondary Q2IBD3 UniProtKB/Swiss-Prot

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2009-11-05 Cftr  cystic fibrosis transmembrane conductance regulator homolog (human)  Cftr  cystic fibrosis transmembrane conductance regulator homolog  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2007-02-02 Cftr  cystic fibrosis transmembrane conductance regulator homolog  RGD1561193_predicted  similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) (predicted)  Data merged from RGD:1561193 737654 APPROVED
2006-03-10 RGD1561193_predicted  similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) (predicted)      Name updated 1299863 APPROVED
2006-03-07 RGD1561193_predicted  similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) (predicted)  LOC500041  similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)  Symbol and Name status set to approved 1299863 APPROVED
2006-02-09 LOC500041  similar to cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)      Symbol and Name status set to provisional 70820 PROVISIONAL
2002-11-06 Cftr  cystic fibrosis transmembrane conductance regulator homolog    Cystic fibrosis transmembrane conductance regulator  Name updated 625702 APPROVED
2002-06-10 Cftr  Cystic fibrosis transmembrane conductance regulator      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_cellular_localization localizes to subapical vesicles and on the apical plasma membrane in crypt cells 724710
gene_disease upregulated in uterine tumors 70557
gene_disease deletion of a phenylalanine at amino acid position 508 (DeltaF508) in the first nucleotide binding domain is the most common mutation that results in cystic fibrosis 1298755
gene_expression expressed in uterus 70348
gene_expression expressed in uterus 70557