Cftr
Gene Detail

Symbol Name ID

Cftr cystic fibrosis transmembrane conductance regulator MGI:88388

STS

D6Mit236

Synonyms

Abcc7

Feature Type

protein coding gene

Genetic Map

Chromosome 6

8.10 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(11)

Sequence Map

Chr6:18170687-18322768 bp, + strand From VEGA annotation of GRCm38   152082 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55465  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Cftr

Human homologs

Human Homolog		CFTR, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
NCBI Gene ID		1080
neXtProt AC		NX_P13569
Human Synonyms		ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR
Human Chr (Location)		7q31.2; chr7:117120017-117308719 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human CFTR

Alleles and phenotypes

All alleles(22) : Targeted(20) Gene trapped(2)
 

Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport.

 
Human Diseases Modeled Using Mouse Cftr (1)    Alleles Annotated to Human Diseases(13)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (46 annotations)

Process	bicarbonate transport, chloride transport, ...
Component	apical plasma membrane, basolateral plasma membrane, ...
Function	ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (191)    Tissues (143)    Images (2)
Theiler Stages: 15, 18, 19, 22, 23, 25, 28

Assay Type	Results
RNA in situ	96
RT-PCR	95

cDNA source data(39)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) Genomic(8) cDNA(40) Primer pair(4) Other(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000024173 (Evidence)
Ensembl Gene Model	ENSMUSG00000041301 (Evidence)
Entrez Gene	12638 (Evidence)
UniGene	15621
DFCI	TC1586585, TC1661251
DoTS	DT.485461, DT.91336199
NIA Mouse Gene Index	U006570
EC	3.6.3.49
PDB	1Q3H, 1R0W, 1R0X, 1R0Y, 1R0Z, 1XFA, 1R10, 1XF9, 3SI7
Consensus CDS Project	CCDS19930.1
International Mouse Knockout Project Status	Cftr

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024173	VEGA Gene Model | MGI Sequence Detail	152082	C57BL/6J
transcript	OTTMUST00000059141	VEGA | MGI Sequence Detail	6303	Not Applicable
polypeptide	OTTMUSP00000028741	VEGA | MGI Sequence Detail	1476	Not Applicable

All sequences(53) RefSeq(2) UniProt(5)

Polymorphisms

All PCR and RFLP(10) : PCR(2) RFLP(8) SNPs(960 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR017940	ABC transporter, integral membrane type 1
InterPro	IPR003439	ABC transporter-like
InterPro	IPR001140	ABC transporter, transmembrane domain
InterPro	IPR011527	ABC transporter, transmembrane domain, type 1
InterPro	IPR025837	CFTR regulator domain
InterPro	IPR005291	Cyclic AMP-dependent chloride channel
InterPro	IPR009147	Cystic fibrosis transmembrane conductance regulator
Protein Ontology	PR:000001044	cystic fibrosis transmembrane conductance regulator (cftr)

References

(Earliest) J:23450 TENNANT JR, SUSCEPTIBILITY AND RESISTANCE TO VIRAL LEUKEMOGENESIS IN THE MOUSE. I. BIOLOGIC DEFINITION OF THE VIRUS. J Natl Cancer Inst. 1965 May;34:625-32
(Latest) J:194637 Zertal-Zidani S, et al., Small-molecule inhibitors of the cystic fibrosis transmembrane conductance regulator increase pancreatic endocrine cell development in rat and mouse. Diabetologia. 2013 Feb;56(2):330-9
All references(337)

Other accession IDs

MGD-MRK-1961, MGI:2141688