Cystic Fibrosis Transmembrane Conductance Regulator

Alternative Names

  • CFTR
  • ATP-Binding Cassette, Subfamily C, Member 7
  • ABCC7
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OMIM Number

602421

NCBI Gene ID

1080

Uniprot ID

P13569

Length

250188 bases

No. of Exons

27

No. of isoforms

3

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000492.3:c.1029delBahrainNC_000007.14:g.117540259delPathogenicPathogenicCystic FibrosisNG_016465.4:g.79476del; NM_000492.3:c.1029del; NP_000483.3:p.Phe342_Cys343insTer12190877453170
NM_000492.3:c.11C>ALebanonNC_000007.14:g.117480105C>APathogenicPathogenicCystic FibrosisNG_016465.4:g.19322C>A; NM_000492.3:c.11C>A; NP_000483.3:p.Ser4Ter39750817353211
NM_000492.3:c.1210-12=Egypt; KuwaitNC_000007.14:g.117548629_117548635=BenignUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.87846_87852=; NM_000492.3:c.1210-12=180517738737
NM_000492.3:c.1418delKuwait; Saudi Arabia; ...NC_000007.14:g.117559489delPathogenicLikely Pathogenic, PathogenicCystic FibrosisNG_016465.4:g.98706del; NM_000492.3:c.1418del; NP_000483.3:p.Gly473GlufsTer5439750820553251
NM_000492.3:c.1517T>CKuwaitNC_000007.14:g.117559588T>CLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.98805T>C; NM_000492.3:c.1517T>C; NP_000483.3:p.Ile506Thr39750822453276
NM_000492.3:c.1624G>TBahrain; Lebanon; Tuni...NC_000007.14:g.117587778G>TDrug Response, PathogenicPathogenicCystic FibrosisNG_016465.4:g.126995G>T; NM_000492.3:c.1624G>T; NP_000483.3:p.Gly542Ter1139939597115
NM_000492.3:c.164+9A>TJordanNC_000007.14:g.117504372A>TUncertain SignificanceUncertain SignificanceCystic FibrosisNG_016465.4:g.43589A>T; NM_000492.3:c.164+9A>T39750824553309
NM_000492.3:c.1646G>AKuwait; Lebanon; Unite...NC_000007.14:g.117587800G>ADrug Response, PathogenicPathogenicCystic FibrosisNG_016465.4:g.127017G>A; NM_000492.3:c.1646G>A; NP_000483.3:p.Ser549Asn1219087557116
NM_000492.3:c.1647T>GOman; Saudi Arabia; Un...NC_000007.14:g.117587801T>GDrug Response, PathogenicLikely Pathogenic, Pathogenic, Uncertain SignificanceCystic FibrosisNG_016465.4:g.127018T>G; NM_000492.3:c.1647T>G; NP_000483.3:p.Ser549Arg12190900540190
NM_000492.3:c.1911delBahrain; Lebanon; Saud...NC_000007.14:g.117592078delPathogenicPathogenicCystic FibrosisNG_016465.4:g.131295del; NM_000492.3:c.1911del; NP_000483.3:p.Gln637fs155438929635834
NM_000492.3:c.1993A>TTunisiaNC_000007.14:g.117592160A>TLikely PathogenicLikely PathogenicCystic FibrosisNG_016465.4:g.131377A>T; NM_000492.3:c.1993A>T ; NP_000483.3:p.Thr665Ser1177201180993031
NM_000492.3:c.2015_2017delLebanonNC_000007.14:g.117592182_117592184delUncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.131399_131401del; NM_000492.3:c.2015_2017del; NP_000483.3:p.Glu672del397508330439062
NM_000492.3:c.220C>TTunisiaNC_000007.14:g.117509089C>TDrug Response, Likely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.48306C>T; NM_000492.3:c.220C>T; NP_000483.3:p.Arg74Trp115545701196277
NM_000492.3:c.2279C>TJordanNC_000007.14:g.117592446C>TUncertain SignificanceUncertain SignificanceCystic FibrosisNG_016465.4:g.131663C>T; NM_000492.3:c.2279C>T; NP_000483.3:p.Thr760Met39750835953467
NM_000492.3:c.254G>ATunisiaNC_000007.14:g.117509123G>APathogenicPathogenicCystic FibrosisNG_016465.4:g.48340G>A; NM_000492.3:c.254G>A; NP_000483.3:p.Gly85Glu759613957143
NM_000492.3:c.2634_2641delTunisiaNC_000007.14:g.117602840_117602847delLikely PathogenicCystic FibrosisNG_016465.4:g.142057_142064del; NM_000492.3:c.2634_2641del; NP_000483.3:p.Leu878fs397508411
NM_000492.3:c.2657+5G>ALebanonNC_000007.14:g.117602868G>APathogenicPathogenicCystic FibrosisNG_016465.4:g.142085G>A; NM_000492.3:c.2657+5G>A8022456038497
NM_000492.3:c.274-2A>GSaudi Arabia; United A...NC_000007.14:g.117530897A>GPathogenicPathogenicCystic FibrosisNG_016465.4:g.70114A>G; NM_000492.3:c.274-2A>G; NP_000483.3:p.?39750842653556
NM_000492.3:c.2856G>CLebanonNC_000007.14:g.117603730G>CLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.142947G>C; NM_000492.3:c.2856G>C; NP_000483.3:p.Met952Ile15104878153580
NM_000492.3:c.2988+1G>ABahrain; Kuwait; Saudi...NC_000007.14:g.117606754G>APathogenicLikely Pathogenic, PathogenicCystic FibrosisNG_016465.4:g.145971G>A; NM_000492.3:c.2988+1G>A; NP_000483.3:p.?750965517224
NM_000492.3:c.3128T>GTunisiaNC_000007.14:g.117610658T>GUncertain SignificanceCystic FibrosisNG_016465.4:g.149875T>G; NM_000492.3:c.3128T>G; NP_000483.3:p.Leu1043Arg
NM_000492.3:c.3196C>TTunisiaNC_000007.14:g.117611637C>TPathogenicPathogenicCystic FibrosisNG_016465.4:g.150854C>T; NM_000492.3:c.3196C>T; NP_000483.3:p.Arg1066Cys781942167162
NM_000492.3:c.3310G>TTunisiaNC_000007.14:g.117611751G>TPathogenicPathogenicCystic FibrosisNG_016465.4:g.150968G>T; NM_000492.3:c.3310G>T; NP_000483.3:p.Glu1104Ter39750853853715
NM_000492.3:c.3497T>GTunisiaNC_000007.14:g.117627550T>GUncertain SignificanceCystic FibrosisNG_016465.4:g.166767T>G; NM_000492.3:c.3497T>G; NP_000483.3:p.Phe1166Cys39750857753761
NM_000492.3:c.3529A>TBahrainNC_000007.14:g.117627582A>TLikely PathogenicLikely PathogenicCystic FibrosisNG_016465.4:g.166799A>T; NM_000492.3:c.3529A>T; NP_000483.3:p.Lys1177Ter39750857853766
NM_000492.3:c.366T>ATunisiaNC_000007.14:g.117530991T>APathogenicPathogenicCystic FibrosisNG_016465.4:g.70208T>A; NM_000492.3:c.366T>A; NP_000483.3:p.Tyr122Ter7966017838833
NM_000492.3:c.3700A>GKuwait; Qatar; Saudi A...NC_000007.14:g.117627753A>GPathogenicPathogenicCystic FibrosisNG_016465.4:g.166970A>G; NM_000492.3:c.3700A>G; NP_000483.3:p.Ile1234Val753899407215
NM_000492.3:c.3717+1G>ALebanonNC_000007.14:g.117627771G>APathogenicPathogenicCystic FibrosisNG_016465.4:g.166988G>A; NM_000492.3:c.3717+1G>A750558115632759
NM_000492.3:c.3808G>ATunisiaNC_000007.14:g.117642528G>ADrug Response, Likely Benign, Pathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.181745G>A; NM_000492.3:c.3808G>A; NP_000483.3:p.Asp1270Asn119711677164
NM_000492.3:c.382T>CKuwaitNC_000007.14:g.117531007T>CUncertain SignificanceCystic FibrosisNG_016465.4:g.70224T>C; NM_000492.3:c.382T>C; NP_000483.3:p.Cys128Arg
NM_000492.3:c.3846G>AKuwait; Lebanon; Tunis...NC_000007.14:g.117642566G>ADrug Response, PathogenicPathogenicCystic FibrosisNG_016465.4:g.181783G>A; NM_000492.3:c.3846G>A; NP_000483.3:p.Trp1282Ter770108987129
NM_000492.3:c.3879_3882ATTT[1]Lebanon; PalestineNC_000007.14:g.117652847_117652850ATTT[1]PathogenicPathogenicCystic FibrosisNG_016465.4:g.192064_192067ATTT[1]; NM_000492.3:c.3879_3882ATTT[1]; NP_000483.3:p.Ile1295fs38790637353838
NM_000492.3:c.3909C>GBahrain; Egypt; Lebano...NC_000007.14:g.117652877C>GPathogenicPathogenicCystic FibrosisNG_016465.4:g.192094C>G; NM_000492.3:c.3909C>G; NP_000483.3:p.Asn1303Lys800344867136
NM_000492.3:c.3964-28G>ALebanonNC_000007.14:g.117664660G>AUncertain SignificanceUncertain SignificanceCystic FibrosisNG_016465.4:g.203877G>A; NM_000492.3:c.3964-28G>A39750865153863
NM_000492.3:c.416A>TBahrain; Saudi ArabiaNC_000007.14:g.117531041A>TUncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.70258A>T; NM_000492.3:c.416A>T; NP_000483.3:p.His139Leu7637111553910
NM_000492.3:c.4251delLebanonNC_000007.14:g.117666916delPathogenicPathogenicCystic FibrosisNG_016465.4:g.206133del; NM_000492.3:c.4251del; NP_000483.3:p.Glu1418fs39750870653933
NM_000492.3:c.443T>CTunisiaNC_000007.14:g.117531068T>CBenign, Likely Benign, Uncertain SignificanceUncertain SignificanceCystic FibrosisNG_016465.4:g.70285T>C; NM_000492.3:c.443T>C; NP_000483.3:p.Ile148Thr3551628638850
NM_000492.3:c.523A>GUnited Arab EmiratesNC_000007.14:g.117534309A>GPathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.73526A>G; NM_000492.3:c.523A>G; NP_000483.3:p.Ile175Val39750874453986
NM_000492.3:c.579+1G>ASaudi ArabiaNC_000007.14:g.117534366G>APathogenicLikely PathogenicCystic FibrosisNG_016465.4:g.73583G>A; NM_000492.3:c.579+1G>A77188391801157
NM_000492.3:c.579+1G>TTunisiaNC_000007.14:g.117534366G>TPathogenicPathogenicCystic FibrosisNG_016465.4:g.73583G>T; NM_000492.3:c.579+1G>T7718839138494
NM_000492.4:c.[350G>A;1210-12=]LebanonNC_000007.14:g.[117530975G>A;117548629_117548635=]PathogenicPathogenicCystic FibrosisNG_016465.4:g.[70192G>A;87846_87852=]; NM_000492.4:c.[350G>A;1210-12=]78655421 18051777109
NM_000492.4:c.[744-33GATT(6);869+11C>T;3909C=]EgyptNC_000007.14:g.[117536515GATT(6);117536684C>T;117652877C=]Likely PathogenicCystic FibrosisNM_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]LebanonNC_000007.14:g.[117536515GATT(6);117536684C>T;117652877C>T]Likely PathogenicCystic FibrosisNM_000492.4:c.[744-33GATT(6);869+11C>T;3909C>T]
NM_000492.4:c.[744-33GATT(7);869+11C=;3909C=]Egypt; LebanonNC_000007.14:g.[117536515GATT(6);117536684C=;117652877C=]Likely PathogenicCystic FibrosisNM_000492.4:c.[744-33GATT(7);869+11C=;3909C=]1805171 1800503 80034486
NM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=]LebanonNC_000007.14:g.[117536515GATT(7);117536684C>T;117652877C=]Likely PathogenicCystic FibrosisNM_000492.4:c.[744-33GATT(7);869+11C>T;3909C=]1805171 1800503 80034486
NM_000492.4:c.1210-7_1210-6delEgypt; KuwaitNC_000007.14:g.117548634_117548635delPathogenic, Risk factor, Uncertain SignificanceLikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.87851_87852del; NM_000492.4:c.1210-7_1210-6del1805177242535
NM_000492.4:c.1210-7_1210-6dupEgypt; KuwaitNC_000007.14:g.117548634_117548635dupBenign, Likely BenignUncertain SignificanceVas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.87851_87852dup; NM_000492.4:c.1210-7_1210-6dup1805177161188
NM_000492.4:c.1393-1G>AUnited Arab EmiratesNC_000007.14:g.117559463G>APathogenicPathogenicCystic FibrosisNG_016465.4:g.98680G>A; NM_000492.4:c.1393-1G>A; NP_000483.3:p.?39750820053242
NM_000492.4:c.1520_1522delArab; Bahrain; Egypt; ...NC_000007.14:g.117559592_117559594delPathogenicLikely Pathogenic, Pathogenic, Uncertain SignificanceCystic Fibrosis; Vas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.98809_98811del; NM_000492.4:c.1520_1522del; NP_000483.3:p.Phe508del1139939607105
NM_000492.4:c.1622T>CEgypt; KuwaitNC_000007.14:g.117587776T>CLikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.126993T>C; NM_000492.4:c.1622T>C; NP_000483.3:p.Leu541Pro
NM_000492.4:c.2490_2490+1insTPalestineNC_000007.14:g.117592657_117592658insTLikely PathogenicCystic FibrosisNG_016465.4:g.131874_131875insT; NM_000492.4:c.2490_2490+1insT
NM_000492.4:c.3469-20T>CUnited Arab EmiratesNC_000007.14:g.117627502T>CBenign, Likely Benign, Uncertain SignificanceLikely BenignNG_016465.4:g.166719T>C; NM_000492.4:c.3469-20T>C; NP_000483.3:p.?3730028897228
NM_000492.4:c.3472C>TUnited Arab EmiratesNC_000007.14:g.117627525C>TPathogenicLikely Pathogenic, PathogenicCystic FibrosisNG_016465.4:g.166742C>T; NM_000492.4:c.3472C>T; NP_000483.3:p.Arg1158Ter798502237144
NM_000492.4:c.3540delUnited Arab EmiratesNC_000007.14:g.117627593delPathogenicPathogenicCystic FibrosisNG_016465.4:g.166810del; NM_000492.4:c.3540del; NP_000483.3:p.Lys1180AsnfsTer1239750858053769
NM_000492.4:c.3718-2477C>TUnited Arab EmiratesNC_000007.14:g.117639961C>TPathogenicPathogenicCystic FibrosisNG_016465.4:g.179178C>T; NM_000492.4:c.3718-2477C>T; NP_000483.3:p.?750397827166
NM_000492.4:c.3874-2A>GUnited Arab EmiratesNC_000007.14:g.117652840A>GLikely PathogenicPathogenicCystic FibrosisNG_016465.4:g.192057A>G; NM_000492.4:c.3874-2A>G; NP_000483.3:p.?1554396384495937
NM_000492.4:c.3883_3884insGLebanonNC_000007.14:g.117652851_117652852insGPathogenicCystic FibrosisNG_016465.4:g.192068_192069insG; NM_000492.4:c.3883_3884insG; NP_000483.3:p.Ile1295Serfs*7981112
NM_000492.4:c.4364C>GUnited Arab Emirates; ...NC_000007.14:g.117667029C>GLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.206246C>G; NM_000492.4:c.4364C>G; NP_000483.3:p.Ser1455Ter1219090437223
NM_000492.4:c.575A>TUnited Arab EmiratesNC_000007.14:g.117534361A>TUncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.73578A>T; NM_000492.4:c.575A>T; NP_000483.3:p.Asp192Val397508758633172
NM_000492.4:c.601G>ATunisiaNC_000007.14:g.117535269G>AUncertain SignificanceLikely PathogenicVas Deferens, Congenital Bilateral Aplasia ofNG_016465.4:g.74486G>A; NM_000492.4:c.601G>A; NP_000483.3:p.Val201Met13833844654022
NM_000492.4:c.744-33GATT[6]LebanonNC_000007.14:g.117536515_117536518GATT[6]BenignUncertain SignificanceCystic FibrosisNG_016465.4:g.75732_75735GATT[6]; NM_000492.4:c.744-33GATT[6]180517143579
NM_000492.4:c.80G>TUnited Arab EmiratesNC_000007.14:g.117504279G>TUncertain SignificanceLikely PathogenicCystic FibrosisNG_016465.4:g.43496G>T; NM_000492.4:c.80G>T; NP_000483.3:p.Gly27Val397508797495958
NM_000492.4:c.850dupUnited Arab EmiratesNC_000007.14:g.117536654dupPathogenicPathogenicCystic FibrosisNG_016465.4:g.75871dup; NM_000492.4:c.850dup; NP_000483.3:p.Met284AsnfsTer3786204693189095
NM_000492.4:c.869+11C>T LebanonNC_000007.14:g.117536684C>TBenignUncertain SignificanceCystic FibrosisNG_016465.4:g.75901C>T; NM_000492.4:c.869+11C>T180050393159

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.

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