Cftr Gene Summary [Mouse]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a chloride channel that controls the regulation of other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]

Details

Type
Nonsense Mediated Decay
Official Symbol
Cftr
Official Name
cystic fibrosis transmembrane conductance regulator [Source:MGI Symbol;Acc:MGI:88388]
Ensembl ID
ENSMUSG00000041301
Bio databases IDs NCBI: 12638 Ensembl: ENSMUSG00000041301
Aliases cystic fibrosis transmembrane conductance regulator
Synonyms ABC35, ABCC7, CF, CF transmembrane conductance regulator, CFTR/MRP, cystic fibrosis transmembrane conductance regulator, dJ760C5.1, MRP7, RGD1561193, TNR-CFTR
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cftr often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • proposed F420-0 ABC transporter, ATP-binding protein
  • regulatory domain
  • phosphonate ABC transporter, ATP-binding protein
  • ATP binding
  • channel-conductance-controlling ATPase
  • pore domain
  • nitrate transport ATP-binding subunits C and D
  • ATPase
  • chloride transporter
  • ion channel
  • heme ABC exporter, ATP-binding protein CcmA
  • bicarbonate transporter
  • Ran binding domain
  • nucleotide-binding domain
  • LPS export ABC transporter ATP-binding protein
  • thiol reductant ABC exporter, CydC subunit
  • gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
  • chloride channel
  • energy-coupling factor transporter ATPase
  • nucleotide binding domain 1
  • chaperone binding
  • multi drug resistance-associated protein (MRP)
  • nucleotide binding fold domain
  • nickel import ATP-binding protein NikE
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • ATPases associated with a variety of cellular activities
  • ATPase activity, coupled to transmembrane movement of substances
  • enzyme binding
  • chloride channel regulator
  • protein binding
  • chloride channel inhibitor activity
  • inorganic anion transporter
  • cell division ATP-binding protein FtsE
  • ABC transporter transmembrane region
  • PDZ-domain binding
  • Six-transmembrane helical domain of the ATP-binding cassette transporters
  • dileucine internalization motif
  • Cystic fibrosis TM conductance regulator (CFTR), regulator domain
  • cobalt transport protein ATP-binding subunit
  • binding protein
  • cystic fibrosis transmembrane conductor regulator (CFTR)
  • cytosolic tail domain
  • ABC transporter
  • PDZ binding motif

Pathways

Biological processes and signaling networks where the Cftr gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
regulated by
  • tetradecanoylphorbol acetate
  • carbamylcholine
  • adenosine triphosphate
  • lipopolysaccharide
  • taurine
  • chenodeoxycholic acid
  • tetrachlorodibenzodioxin
  • Na+
  • Ca2+
  • aflatoxin B1
disease
  • neoplasia
  • esophageal adenocarcinoma
  • infection
  • cystic fibrosis
  • coronary artery disease
  • cholestasis
  • cancer
  • pulmonary disease
  • CFTR-related disorder
  • CFTR deltaF508 heterozygous mutation positive CFTR R352Q mutation positive cystic fibrosis
phenotypes
  • abnormal Brunner's gland morphology
  • abnormal alveolar macrophage morphology
  • abnormal bile duct morphology
  • abnormal bronchus morphology
  • abnormal colon goblet cell morphology
  • abnormal colon morphology
  • abnormal crypts of Lieberkuhn morphology
  • abnormal digestive system physiology
  • abnormal fluid regulation
  • abnormal gait
  • abnormal gallbladder morphology
  • abnormal gallbladder physiology
  • abnormal gland morphology
  • abnormal hepatocyte morphology
  • abnormal ileal goblet cell morphology
  • abnormal intestinal goblet cell morphology
  • abnormal intestinal mucosa morphology
  • abnormal intestine morphology
  • abnormal intestine physiology
  • abnormal ion homeostasis
  • abnormal jejunum morphology
  • abnormal lacrimal gland morphology
  • abnormal large intestine crypts of Lieberkuhn morphology
  • abnormal lung morphology
  • abnormal nasal mucosa morphology
  • abnormal pancreas morphology
  • abnormal pancreas physiology
  • abnormal paranasal sinus morphology
  • abnormal phospholipid level
  • abnormal pulmonary alveolus morphology
  • abnormal respiratory system physiology
  • abnormal salivary gland morphology
  • abnormal small intestinal crypt cell physiology
  • abnormal small intestine crypts of Lieberkuhn morphology
  • abnormal small intestine goblet cell morphology
  • abnormal small intestine morphology
  • abnormal sperm physiology
  • abnormal submandibular gland morphology
  • abnormal submucosal gland morphology
  • abnormal thymus involution
  • abnormal trachea gland morphology
  • abnormal trachea morphology
  • abnormal uterine cervix morphology
  • abnormal vas deferens morphology
  • abnormal vital capacity
  • absent estrous cycle
  • acute pancreas inflammation
  • aphagia
  • asthenozoospermia
  • atelectasis
  • bile duct epithelium hyperplasia
  • cachexia
  • coiled cecum
  • crypts of Lieberkuhn abscesses
  • decreased body length
  • decreased body size
  • decreased body weight
  • decreased corpora lutea number
  • decreased intestinal epithelial chloride transmembrane transport
  • decreased intestinal epithelial sodium ion transmembrane transport
  • decreased litter size
  • decreased neutrophil cell number
  • decreased ovary weight
  • decreased ovulation rate
  • decreased respiratory epithelial chloride transmembrane transport
  • decreased respiratory epithelial sodium ion transmembrane transport
  • decreased small intestinal villus number
  • decreased survivor rate
  • decreased uterus weight
  • delayed sexual maturation
  • dilated Brunner's glands
  • dilated crypts of Lieberkuhn
  • dilated gallbladder
  • dilated pancreatic duct
  • distended abdomen
  • enlarged gallbladder
  • female infertility
  • gallbladder inflammation
  • ileum hypertrophy
  • impaired fertilization
  • impaired sperm capacitation
  • increased lung compliance
  • increased respiratory epithelial sodium ion transmembrane transport
  • increased respiratory mucosa goblet cell number
  • increased susceptibility to bacterial infection
  • increased susceptibility to bacterial infection induced morbidity/mortality
  • increased susceptibility to infection
  • intestinal mucus accumulation
  • intestinal obstruction
  • intestinal ulcer
  • lacrimal gland atrophy
  • lethality incomplete penetrance
  • lung inflammation
  • meconium ileus
  • no abnormal phenotype detected
  • pancreatic acinar cell atrophy
  • pancreatic acinar cell zymogen granule accumulation
  • pancreatic acinus dilation
  • peritoneal inflammation
  • postnatal growth retardation
  • postnatal lethality complete penetrance
  • postnatal lethality incomplete penetrance
  • premature death
  • preweaning lethality complete penetrance
  • prolonged estrous cycle
  • pulmonary interstitial fibrosis
  • reduced female fertility
  • reduced male fertility
  • small cecum
  • small ovary
  • small pancreas
  • small uterus
  • spleen hyperplasia
  • thin uterus
  • transmission ratio distortion
  • weight loss
role in cell
  • expression in
  • proliferation
  • molecular cleavage in
  • phosphorylation in
  • accumulation in
  • apoptosis
  • quantity
  • activation
  • production in
  • depolarization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • endocytic vesicle membrane
  • Cytoplasm
  • cell surface
  • cell periphery
  • intracellular space
  • apical compartment
  • perinuclear region
  • cellular membrane
  • Nucleus
  • endosomes
  • vesicles
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • granules
  • cytosol
  • apical cytoplasm
  • endoplasmic reticulum membrane
  • apical membrane
  • basolateral membrane
  • lateral plasma membrane
  • Golgi membrane
  • lysosome membrane
  • endosomal membrane
  • recycling endosomes
  • early endosomes
  • membrane rafts
  • detergent insoluble microdomains
  • brush border
  • microvilli
  • perikaryon
  • dendrites
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Cftr gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • transepithelial water transport
  • transmembrane transport
  • cholesterol biosynthetic process
  • amelogenesis
  • positive regulation of exocytosis
  • sperm capacitation
  • intracellular pH elevation
  • multicellular organismal water homeostasis
  • positive regulation of enamel mineralization
  • vesicle docking involved in exocytosis
  • cellular response to cAMP
  • membrane hyperpolarization
  • establishment of localization in cell
  • cholesterol transport
  • positive regulation of insulin secretion involved in cellular response to glucose stimulus
  • bicarbonate transport
  • response to endoplasmic reticulum stress

Cellular Component

Where in the cell the gene product is active
  • plasma membrane
  • lysosomal membrane
  • cell surface
  • endoplasmic reticulum membrane
  • early endosome membrane
  • chloride channel complex
  • nucleus
  • early endosome
  • clathrin-coated endocytic vesicle membrane
  • cytoplasm
  • membrane
  • Golgi-associated vesicle membrane
  • cytosol
  • macromolecular complex
  • endosome membrane
  • recycling endosome
  • recycling endosome membrane
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ATPase activity
  • chloride channel inhibitor activity
  • ATPase activity, coupled to transmembrane movement of substances
  • channel-conductance-controlling ATPase activity
  • chloride channel activity
  • anion transmembrane-transporting ATPase activity
  • chloride channel regulator activity
  • ATP binding
  • protein binding
  • chaperone binding
  • PDZ domain binding
  • chloride transmembrane transporter activity
  • bicarbonate transmembrane transporter activity
  • isomerase activity
  • enzyme binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.