Cftr cystic fibrosis transmembrane conductance regulator [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cftrprovided by MGI
Official Full Name: cystic fibrosis transmembrane conductance regulatorprovided by MGI
Primary source: MGI:MGI:88388
See related: Ensembl:ENSMUSG00000041301 AllianceGenome:MGI:88388
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Abcc7
Summary: 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]
Expression: Biased expression in large intestine adult (RPKM 4.3), testis adult (RPKM 3.6) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A2; 6 8.1 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (18170686..18322769)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (18170687..18322770)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of CFTR in diabetes-induced pancreatic ductal fluid and HCO3 [-] secretion.
Title: Role of CFTR in diabetes-induced pancreatic ductal fluid and HCO(3) (-) secretion.
Fecal dysbiosis and inflammation in intestinal-specific Cftr knockout mice on regimens preventing intestinal obstruction.
Title: Fecal dysbiosis and inflammation in intestinal-specific Cftr knockout mice on regimens preventing intestinal obstruction.
CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
Title: CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway.
Epithelial TNF controls cell differentiation and CFTR activity to maintain intestinal mucin homeostasis.
Title: Epithelial TNF controls cell differentiation and CFTR activity to maintain intestinal mucin homeostasis.
CFTR and PC2, partners in the primary cilia in autosomal dominant polycystic kidney disease.
Title: CFTR and PC2, partners in the primary cilia in autosomal dominant polycystic kidney disease.
CFTR Modulates Hypothalamic Neuron Excitability to Maintain Female Cycle.
Title: CFTR Modulates Hypothalamic Neuron Excitability to Maintain Female Cycle.
CFTR dysfunction in smooth muscle drives TGFbeta dependent airway hyperreactivity.
Title: CFTR dysfunction in smooth muscle drives TGFβ dependent airway hyperreactivity.
CFTR regulates brown adipocyte thermogenesis via the cAMP/PKA signaling pathway.
Title: CFTR regulates brown adipocyte thermogenesis via the cAMP/PKA signaling pathway.
Pharmacological inhibition of CFTR attenuates nonalcoholic steatohepatitis (NASH) progression in mice.
Title: Pharmacological inhibition of CFTR attenuates nonalcoholic steatohepatitis (NASH) progression in mice.
Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.
Title: Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (243)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (19) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cftr (e-PCR), detects polymorphism
- UniSTS:141327

Cftr (e-PCR), detects polymorphism
- UniSTS:141328

Cftr (e-PCR), detects polymorphism
- UniSTS:141329

M60493 (e-PCR)
- UniSTS:124961

G63881 (e-PCR)
- UniSTS:140869

G63882 (e-PCR)
- UniSTS:140870

G63879 (e-PCR)
- UniSTS:140871

G63883 (e-PCR)
- UniSTS:140872

G63880 (e-PCR)
- UniSTS:140873

Cftr (e-PCR), detects polymorphism
- UniSTS:239210

34.MMHAP67FLD4.seq (e-PCR)
- UniSTS:124104

D6Mit236 (e-PCR), detects polymorphism
- UniSTS:130782

CFTR (e-PCR), detects polymorphism
- UniSTS:253408

G63875 (e-PCR)
- UniSTS:140779

G63877 (e-PCR)
- UniSTS:140780

G63874 (e-PCR)
- UniSTS:140781

AW495489 (e-PCR)
- UniSTS:159481

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology more info
enables Sec61 translocon complex binding	ISO Inferred from Sequence Orthology more info
enables bicarbonate transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables bicarbonate transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	IDA Inferred from Direct Assay more info	PubMed
enables chloride channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel inhibitor activity	ISO Inferred from Sequence Orthology more info
enables chloride transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables intracellularly ATP-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in amelogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to forskolin	ISO Inferred from Sequence Orthology more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in chloride transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chloride transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chloride transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chloride transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in enamel mineralization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular pH elevation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung development	ISO Inferred from Sequence Orthology more info
involved_in membrane hyperpolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of type B pancreatic cell development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of vascular associated smooth muscle cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cyclic nucleotide-gated ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cyclic nucleotide-gated ion channel activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of enamel mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of establishment of Sertoli cell barrier	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of exocytosis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mast cell activation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of voltage-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
NOT involved_in regulation of membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
involved_in response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in sperm capacitation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transepithelial chloride transport	ISO Inferred from Sequence Orthology more info
involved_in transepithelial water transport	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in vasodilation	ISO Inferred from Sequence Orthology more info
involved_in vesicle docking involved in exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
colocalizes_with early endosome	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cystic fibrosis transmembrane conductance regulator

Names: ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; ATP-binding cassette, subfamily c, member 7; cAMP-dependent chloride channel; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator homolog; cystic fibrosis transmembrane conductance regulator homolog; ATP-binding cassette, subfamily c, member 7

NP_066388.1

EC 5.6.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.