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

Enables ATP binding activity; ATP hydrolysis activity; and chloride channel activity. Involved in heart development. Acts upstream of or within several processes, including Kupffer's vesicle development; defense response to other organism; and regulation of neutrophil chemotaxis. Located in apical plasma membrane. Is expressed in several structures, including Kupffer's vesicle; digestive system; forerunner cell group; head; and pleuroperitoneal region. 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); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). 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