Cystic Fibrosis Transmembrane Conductance Regulator

Alternative Names

CFTR
ATP-Binding Cassette, Subfamily C, Member 7
ABCC7

Length

250188 bases

No. of Exons

No. of isoforms

Protein Name

Cystic fibrosis transmembrane conductance regulator

Molecular Mass

168142 Da

Amino Acid Count

1480

Genomic Location

chr7:117465784-117715971

Gene Map Locus

7q31.2

Description

The Cystic fibrosis transmembrane regulator (CFTR) gene located on chromosome 7 encodes CFTR protein - a protein that is involved in transportation of chloride ions and water molecules across cell membranes. CFTR is a member of the ATP-binding cassette family of membrane transport proteins but appears to be unique within this family by functioning as an ion channel rather than an active transporter protein.

Mutations in the CFTR gene is associated with Cystic fibrosis (CF). These mutations disrupt the chloride ion transport required to maintain the viscosity of mucus in the respiratory, digestive, and reproductive systems. The build-up of highly viscous mucus in different organs leads to the manifestation of signs and symptoms characteristic to CF. CFTR gene mutations have also been implicated in Congenital bilateral absence of the vas deferens (CBAVD), characterized by an absence of vas deferens since birth. Studies have indicated that mutations in the CFTR gene could protect carriers against Salmonella typhi, the bacteria that causes typhoid fever.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000492.3:c.1029del	Bahrain	NC_000007.14:g.117540259del	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.79476del; NM_000492.3:c.1029del; NP_000483.3:p.Phe342_Cys343insTer	121908774	53170
NM_000492.3:c.11C>A	Lebanon	NC_000007.14:g.117480105C>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.19322C>A; NM_000492.3:c.11C>A; NP_000483.3:p.Ser4Ter	397508173	53211
NM_000492.3:c.1210-12=	Egypt; Kuwait	NC_000007.14:g.117548629_117548635=	Benign	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.87846_87852=; NM_000492.3:c.1210-12=	1805177	38737
NM_000492.3:c.1418del	Kuwait; Saudi Arabia; ...	NC_000007.14:g.117559489del	Pathogenic	Likely Pathogenic, Pathogenic	Cystic Fibrosis	NG_016465.4:g.98706del; NM_000492.3:c.1418del; NP_000483.3:p.Gly473GlufsTer54	397508205	53251
NM_000492.3:c.1517T>C	Kuwait	NC_000007.14:g.117559588T>C	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.98805T>C; NM_000492.3:c.1517T>C; NP_000483.3:p.Ile506Thr	397508224	53276
NM_000492.3:c.1624G>T	Bahrain; Lebanon; Tuni...	NC_000007.14:g.117587778G>T	Drug Response, Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.126995G>T; NM_000492.3:c.1624G>T; NP_000483.3:p.Gly542Ter	113993959	7115
NM_000492.3:c.164+9A>T	Jordan	NC_000007.14:g.117504372A>T	Uncertain Significance	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.43589A>T; NM_000492.3:c.164+9A>T	397508245	53309
NM_000492.3:c.1646G>A	Kuwait; Lebanon; Unite...	NC_000007.14:g.117587800G>A	Drug Response, Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.127017G>A; NM_000492.3:c.1646G>A; NP_000483.3:p.Ser549Asn	121908755	7116
NM_000492.3:c.1647T>G	Oman; Saudi Arabia; Un...	NC_000007.14:g.117587801T>G	Drug Response, Pathogenic	Likely Pathogenic, Pathogenic, Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.127018T>G; NM_000492.3:c.1647T>G; NP_000483.3:p.Ser549Arg	121909005	40190
NM_000492.3:c.1911del	Bahrain; Lebanon; Saud...	NC_000007.14:g.117592078del	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.131295del; NM_000492.3:c.1911del; NP_000483.3:p.Gln637fs	1554389296	35834
NM_000492.3:c.1993A>T	Tunisia	NC_000007.14:g.117592160A>T	Likely Pathogenic	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.131377A>T; NM_000492.3:c.1993A>T ; NP_000483.3:p.Thr665Ser	1177201180	993031
NM_000492.3:c.2015_2017del	Lebanon	NC_000007.14:g.117592182_117592184del	Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.131399_131401del; NM_000492.3:c.2015_2017del; NP_000483.3:p.Glu672del	397508330	439062
NM_000492.3:c.220C>T	Tunisia	NC_000007.14:g.117509089C>T	Drug Response, Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.48306C>T; NM_000492.3:c.220C>T; NP_000483.3:p.Arg74Trp	115545701	196277
NM_000492.3:c.2279C>T	Jordan	NC_000007.14:g.117592446C>T	Uncertain Significance	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.131663C>T; NM_000492.3:c.2279C>T; NP_000483.3:p.Thr760Met	397508359	53467
NM_000492.3:c.254G>A	Tunisia	NC_000007.14:g.117509123G>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.48340G>A; NM_000492.3:c.254G>A; NP_000483.3:p.Gly85Glu	75961395	7143
NM_000492.3:c.2634_2641del	Tunisia	NC_000007.14:g.117602840_117602847del		Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.142057_142064del; NM_000492.3:c.2634_2641del; NP_000483.3:p.Leu878fs	397508411
NM_000492.3:c.2657+5G>A	Lebanon	NC_000007.14:g.117602868G>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.142085G>A; NM_000492.3:c.2657+5G>A	80224560	38497
NM_000492.3:c.274-2A>G	Saudi Arabia; United A...	NC_000007.14:g.117530897A>G	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.70114A>G; NM_000492.3:c.274-2A>G; NP_000483.3:p.?	397508426	53556
NM_000492.3:c.2856G>C	Lebanon	NC_000007.14:g.117603730G>C	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.142947G>C; NM_000492.3:c.2856G>C; NP_000483.3:p.Met952Ile	151048781	53580
NM_000492.3:c.2988+1G>A	Bahrain; Kuwait; Saudi...	NC_000007.14:g.117606754G>A	Pathogenic	Likely Pathogenic, Pathogenic	Cystic Fibrosis	NG_016465.4:g.145971G>A; NM_000492.3:c.2988+1G>A; NP_000483.3:p.?	75096551	7224
NM_000492.3:c.3128T>G	Tunisia	NC_000007.14:g.117610658T>G		Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.149875T>G; NM_000492.3:c.3128T>G; NP_000483.3:p.Leu1043Arg
NM_000492.3:c.3196C>T	Tunisia	NC_000007.14:g.117611637C>T	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.150854C>T; NM_000492.3:c.3196C>T; NP_000483.3:p.Arg1066Cys	78194216	7162
NM_000492.3:c.3310G>T	Tunisia	NC_000007.14:g.117611751G>T	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.150968G>T; NM_000492.3:c.3310G>T; NP_000483.3:p.Glu1104Ter	397508538	53715
NM_000492.3:c.3497T>G	Tunisia	NC_000007.14:g.117627550T>G		Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.166767T>G; NM_000492.3:c.3497T>G; NP_000483.3:p.Phe1166Cys	397508577	53761
NM_000492.3:c.3529A>T	Bahrain	NC_000007.14:g.117627582A>T	Likely Pathogenic	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.166799A>T; NM_000492.3:c.3529A>T; NP_000483.3:p.Lys1177Ter	397508578	53766
NM_000492.3:c.366T>A	Tunisia	NC_000007.14:g.117530991T>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.70208T>A; NM_000492.3:c.366T>A; NP_000483.3:p.Tyr122Ter	79660178	38833
NM_000492.3:c.3700A>G	Kuwait; Qatar; Saudi A...	NC_000007.14:g.117627753A>G	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.166970A>G; NM_000492.3:c.3700A>G; NP_000483.3:p.Ile1234Val	75389940	7215
NM_000492.3:c.3717+1G>A	Lebanon	NC_000007.14:g.117627771G>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.166988G>A; NM_000492.3:c.3717+1G>A	750558115	632759
NM_000492.3:c.3808G>A	Tunisia	NC_000007.14:g.117642528G>A	Drug Response, Likely Benign, Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.181745G>A; NM_000492.3:c.3808G>A; NP_000483.3:p.Asp1270Asn	11971167	7164
NM_000492.3:c.382T>C	Kuwait	NC_000007.14:g.117531007T>C		Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.70224T>C; NM_000492.3:c.382T>C; NP_000483.3:p.Cys128Arg
NM_000492.3:c.3846G>A	Kuwait; Lebanon; Tunis...	NC_000007.14:g.117642566G>A	Drug Response, Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.181783G>A; NM_000492.3:c.3846G>A; NP_000483.3:p.Trp1282Ter	77010898	7129
NM_000492.3:c.3879_3882ATTT[1]	Lebanon; Palestine	NC_000007.14:g.117652847_117652850ATTT[1]	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.192064_192067ATTT[1]; NM_000492.3:c.3879_3882ATTT[1]; NP_000483.3:p.Ile1295fs	387906373	53838
NM_000492.3:c.3909C>G	Bahrain; Egypt; Lebano...	NC_000007.14:g.117652877C>G	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.192094C>G; NM_000492.3:c.3909C>G; NP_000483.3:p.Asn1303Lys	80034486	7136
NM_000492.3:c.3964-28G>A	Lebanon	NC_000007.14:g.117664660G>A	Uncertain Significance	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.203877G>A; NM_000492.3:c.3964-28G>A	397508651	53863
NM_000492.3:c.416A>T	Bahrain; Saudi Arabia	NC_000007.14:g.117531041A>T	Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.70258A>T; NM_000492.3:c.416A>T; NP_000483.3:p.His139Leu	76371115	53910
NM_000492.3:c.4251del	Lebanon	NC_000007.14:g.117666916del	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.206133del; NM_000492.3:c.4251del; NP_000483.3:p.Glu1418fs	397508706	53933
NM_000492.3:c.443T>C	Tunisia	NC_000007.14:g.117531068T>C	Benign, Likely Benign, Uncertain Significance	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.70285T>C; NM_000492.3:c.443T>C; NP_000483.3:p.Ile148Thr	35516286	38850
NM_000492.3:c.523A>G	United Arab Emirates	NC_000007.14:g.117534309A>G	Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.73526A>G; NM_000492.3:c.523A>G; NP_000483.3:p.Ile175Val	397508744	53986
NM_000492.3:c.579+1G>A	Saudi Arabia	NC_000007.14:g.117534366G>A	Pathogenic	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.73583G>A; NM_000492.3:c.579+1G>A	77188391	801157
NM_000492.3:c.579+1G>T	Tunisia	NC_000007.14:g.117534366G>T	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.73583G>T; NM_000492.3:c.579+1G>T	77188391	38494
NM_000492.4:c.[350G>A;1210-12=]	Lebanon	NC_000007.14:g.[117530975G>A;117548629_117548635=]	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.[70192G>A;87846_87852=]; NM_000492.4:c.[350G>A;1210-12=]	78655421 1805177	7109
NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]	Egypt	NC_000007.14:g.[117536515GATT(6);117536684C>T;117652877C=]		Likely Pathogenic	Cystic Fibrosis	NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]	1805171 1800503 80034486
NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C>T]	Lebanon	NC_000007.14:g.[117536515GATT(6);117536684C>T;117652877C>T]		Likely Pathogenic	Cystic Fibrosis	NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C>T]
NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=]	Egypt; Lebanon	NC_000007.14:g.[117536515GATT(6);117536684C=;117652877C=]		Likely Pathogenic	Cystic Fibrosis	NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=]	1805171 1800503 80034486
NM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=]	Lebanon	NC_000007.14:g.[117536515GATT(7);117536684C>T;117652877C=]		Likely Pathogenic	Cystic Fibrosis	NM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=]	1805171 1800503 80034486
NM_000492.4:c.1210-7_1210-6del	Egypt; Kuwait	NC_000007.14:g.117548634_117548635del	Pathogenic, Risk factor, Uncertain Significance	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.87851_87852del; NM_000492.4:c.1210-7_1210-6del	1805177	242535
NM_000492.4:c.1210-7_1210-6dup	Egypt; Kuwait	NC_000007.14:g.117548634_117548635dup	Benign, Likely Benign	Uncertain Significance	Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.87851_87852dup; NM_000492.4:c.1210-7_1210-6dup	1805177	161188
NM_000492.4:c.1393-1G>A	United Arab Emirates	NC_000007.14:g.117559463G>A	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.98680G>A; NM_000492.4:c.1393-1G>A; NP_000483.3:p.?	397508200	53242
NM_000492.4:c.1520_1522del	Arab; Bahrain; Egypt; ...	NC_000007.14:g.117559592_117559594del	Pathogenic	Likely Pathogenic, Pathogenic, Uncertain Significance	Cystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.98809_98811del; NM_000492.4:c.1520_1522del; NP_000483.3:p.Phe508del	113993960	7105
NM_000492.4:c.1622T>C	Egypt; Kuwait	NC_000007.14:g.117587776T>C		Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.126993T>C; NM_000492.4:c.1622T>C; NP_000483.3:p.Leu541Pro
NM_000492.4:c.2490_2490+1insT	Palestine	NC_000007.14:g.117592657_117592658insT		Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.131874_131875insT; NM_000492.4:c.2490_2490+1insT
NM_000492.4:c.3469-20T>C	United Arab Emirates	NC_000007.14:g.117627502T>C	Benign, Likely Benign, Uncertain Significance	Likely Benign		NG_016465.4:g.166719T>C; NM_000492.4:c.3469-20T>C; NP_000483.3:p.?	373002889	7228
NM_000492.4:c.3472C>T	United Arab Emirates	NC_000007.14:g.117627525C>T	Pathogenic	Likely Pathogenic, Pathogenic	Cystic Fibrosis	NG_016465.4:g.166742C>T; NM_000492.4:c.3472C>T; NP_000483.3:p.Arg1158Ter	79850223	7144
NM_000492.4:c.3540del	United Arab Emirates	NC_000007.14:g.117627593del	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.166810del; NM_000492.4:c.3540del; NP_000483.3:p.Lys1180AsnfsTer12	397508580	53769
NM_000492.4:c.3718-2477C>T	United Arab Emirates	NC_000007.14:g.117639961C>T	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.179178C>T; NM_000492.4:c.3718-2477C>T; NP_000483.3:p.?	75039782	7166
NM_000492.4:c.3874-2A>G	United Arab Emirates	NC_000007.14:g.117652840A>G	Likely Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.192057A>G; NM_000492.4:c.3874-2A>G; NP_000483.3:p.?	1554396384	495937
NM_000492.4:c.3883_3884insG	Lebanon	NC_000007.14:g.117652851_117652852insG		Pathogenic	Cystic Fibrosis	NG_016465.4:g.192068_192069insG; NM_000492.4:c.3883_3884insG; NP_000483.3:p.Ile1295Serfs*7		981112
NM_000492.4:c.4364C>G	United Arab Emirates; ...	NC_000007.14:g.117667029C>G	Likely Pathogenic, Pathogenic, Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.206246C>G; NM_000492.4:c.4364C>G; NP_000483.3:p.Ser1455Ter	121909043	7223
NM_000492.4:c.575A>T	United Arab Emirates	NC_000007.14:g.117534361A>T	Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.73578A>T; NM_000492.4:c.575A>T; NP_000483.3:p.Asp192Val	397508758	633172
NM_000492.4:c.601G>A	Tunisia	NC_000007.14:g.117535269G>A	Uncertain Significance	Likely Pathogenic	Vas Deferens, Congenital Bilateral Aplasia of	NG_016465.4:g.74486G>A; NM_000492.4:c.601G>A; NP_000483.3:p.Val201Met	138338446	54022
NM_000492.4:c.744-33GATT[6]	Lebanon	NC_000007.14:g.117536515_117536518GATT[6]	Benign	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.75732_75735GATT[6]; NM_000492.4:c.744-33GATT[6]	1805171	43579
NM_000492.4:c.80G>T	United Arab Emirates	NC_000007.14:g.117504279G>T	Uncertain Significance	Likely Pathogenic	Cystic Fibrosis	NG_016465.4:g.43496G>T; NM_000492.4:c.80G>T; NP_000483.3:p.Gly27Val	397508797	495958
NM_000492.4:c.850dup	United Arab Emirates	NC_000007.14:g.117536654dup	Pathogenic	Pathogenic	Cystic Fibrosis	NG_016465.4:g.75871dup; NM_000492.4:c.850dup; NP_000483.3:p.Met284AsnfsTer3	786204693	189095
NM_000492.4:c.869+11C>T	Lebanon	NC_000007.14:g.117536684C>T	Benign	Uncertain Significance	Cystic Fibrosis	NG_016465.4:g.75901C>T; NM_000492.4:c.869+11C>T	1800503	93159

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Other Reports

Qatar

[See also: Egypt > Wahab et al., 2004; Syria > Wahab et al., 2002].

Syria

[See also Bahrain >Eskandarani, 2002].

United Arab Emirates

Dawson and Frossard (2000a and 2000b) hypothesized that the founder delta F508 mutation in CFTR gene, which is suggested to have spread to Europe around 40,000 years ago, occurred among the inhabitants of Iranian Plateau. As a result of further migration, the descendants of these inhabitants who moved to Baluchistan is thought to have introduced the F508 mutation in the UAE and other Gulf countries in the last 150 years.

External Links

https://medlineplus.gov/genetics/gene/cftr/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=CFTR

Contributors

Pratibha Nair: 06.03.2023
Asha Deepthi: 09.08.2022
Asha Deepthi: 02.06.2022
Asha Deepthi: 02.11.2020
Asha Deepthi: 28.04.2020
Ghazi O. Tadmouri: 08.10.2014
Ghazi O. Tadmouri: 05.09.2012
Ghazi O. Tadmouri: 05.10.2011
Pratibha Nair: 11.07.2011
Ghazi O. Tadmouri: 10.03.2011
Tasneem Obeid: 14.07.2008
Tasneem Obeid: 03.07.2008
Pratibha Nair: 09.04.2007
Ghazi O. Tadmouri: 08.04.2007
Pratibha Nair: 28.09.2006
Abeer Fareed: 27.09.2006
Sarah Al-Haj Ali: 07.12.2005

Edit History

Pratibha Nair: 25.01.2024
Pratibha Nair: 06.03.2023
Asha Deepthi: 09.08.2022
Asha Deepthi: 02.06.2022
Pratibha Nair: 14.02.2022
Asha Deepthi: 02.11.2020
Asha Deepthi: 28.04.2020
Abdul R Hamzeh: 01.04.2015
Pratibha Nair: 09.10.2014
Pratibha Nair: 10.06.2013
Pratibha Nair: 21.10.2012
Tasneem Obeid: 06.10.2011
Pratibha Nair: 14.04.2011
Pratibha Nair: 15.10.2009
Pratibha Nair: 14.06.2009
Tasneem Obeid: 11.06.2009
Tasneem Obeid: 26.03.2009
Pratibha Nair: 10.04.2007
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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