Gene

cftr

ID

ZDB-GENE-050517-20

Name

CF transmembrane conductance regulator

Symbol

cftr Nomenclature History

Previous Names

abcc7 (1)
si:dkey-270i2.2 (1)

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Exhibits ATP binding activity and ATPase activity. Involved in several processes, including Kupffer's vesicle development; germ cell migration; and regulation of neutrophil chemotaxis. Localizes to apical plasma membrane and integral component of membrane. Used to study cystic fibrosis and diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); cystic fibrosis; and lung disease (multiple). Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. Orthologous to human CFTR (CF transmembrane conductance regulator).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 9 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 37 figures from 13 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With cftr Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive congenital bilateral absence of vas deferens	Alliance	Congenital bilateral absence of vas deferens	277180
bronchiectasis	Alliance	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}	211400
bronchiectasis 1	Alliance	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}	211400
cystic fibrosis	Alliance	Cystic fibrosis	219700
pancreatitis	Alliance	{Pancreatitis, hereditary}	167800
		Sweat chloride elevation without CF
		{Hypertrypsinemia, neonatal}

Associated With cftr Via Experimental Models

Human Disease	Fish	Conditions	Citations
cystic fibrosis	AB + MO1-cftr + MO2-cftr	standard conditions	Cafora et al., 2020
cystic fibrosis	AB + MO1-cftr + MO2-cftr	control	Cafora et al., 2019
cystic fibrosis	cftr^{pd1049/pd1049}	standard conditions	Delaspre et al., 2015
cystic fibrosis	i114Tg + MO7-cftr	standard conditions	Bernut et al., 2020
cystic fibrosis	WT + MO7-cftr	standard conditions	Johansen et al., 2021
cystic fibrosis	cftr^{scu101/scu101}	standard conditions	Liu et al., 2020
cystic fibrosis	cftr^sh540/sh540	standard conditions	Bernut et al., 2020
diabetes mellitus	cftr^{pd1049/pd1049}	standard conditions	Delaspre et al., 2015

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017871	ABC transporter-like, conserved site
Domain	IPR003439	ABC transporter-like, ATP-binding domain
Domain	IPR003593	AAA+ ATPase domain
Domain	IPR011527	ABC transporter type 1, transmembrane domain
Domain	IPR025837	CFTR regulator domain
Family	IPR009147	Cystic fibrosis transmembrane conductance regulator
Homologous_superfamily	IPR027417	P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily	IPR036640	ABC transporter type 1, transmembrane domain superfamily