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Gene id

1080

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

CFTR Gene UCSC Ensembl

Aliases

ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1

Gene name

cystic fibrosis transmembrane conductance regulator

Alternate names

cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7),

Gene location

7q31.2 (117478366: 117668664) Exons: 32 NC_000007.14

Gene summary(Entrez)

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]

OMIM

602421

SNPs

rs213950

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000669.2   g.117559479G>A
NC_000007.13   g.117199533G=
NC_000007.13   g.117199533G>A
NC_000007.14   g.117559479G=
NC_000007.14   g.117559479G>A
NG_016465.4   g.98696G=
NG_016465.4   g.98696G>A
NM_000492.3   c.1408G=
NM_000492.3   c.1408G>A
NP_000483.3   p.Val470=
NP_000483.3   p.Val470Met
NR_149084.1   n.221+1254C=
NR_149084.1   n.221+1254C>T
XP_011514053.1   p.Val500=
XP_011514053.1   p.Val500Met
XP_011514055.1   p.Val389=
XP_011514055.1   p.Val389Met
XP_011514056.1   p.Val389=
XP_011514056.1   p.Val389Met
XP_016867188.1   p.Val389=
XP_016867188.1   p.Val389Met
Clinical Significance: other

Protein Summary

Protein general information

P13569

Name: Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP binding cassette sub family C member 7) (Channel conductance controlling ATPase) (EC 3.6.3.49) (cAMP dependent chloride channel)

Length: 1480 Mass: 168,142

Tissue specificity: Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed

Sequence

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRR
CFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGM
QMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFC
GLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFL
QKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIER
GQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQ
LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDA
PVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILP
RISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEIN
EEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNR
FSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSP
IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEG
EGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD
SITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGH
KQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYD
SIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

Structural information

Protein Domains	ABC (81-365) ABC (423-646) ABC (859-1155) (1210-)
Motifs	PDZ-binding. {ECO:0000269\|PubMed:11707463,(1478-1480)
Interpro:	IPR003593 IPR011527 IPR003439 IPR017871 IPR009147 IPR025837 IPR027417
Prosite:	PS50929 PS00211 PS50893
Pfam:	PF00664 PF00005 PF14396
PDB:	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW 4WZ6 5D2D 5D3E 5UAK
PDBsum:	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW 4WZ6 5D2D 5D3E 5UAK
DIP:	32788
MINT:	148539
STRING:	ENSP00000003084;

Other Databases

GeneCards: CFTR; Malacards: CFTR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IMP	molecular_function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0005769	early endosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006695	cholesterol biosynthetic process	IEA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0006810	transport	TAS	biological_process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0015701	bicarbonate transport	IEA	biological_process
GO:0016323	basolateral plasma membra ne	NAS	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0017081	chloride channel regulato r activity	TAS	molecular_function
GO:0019869	chloride channel inhibito r activity	IDA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030165	PDZ domain binding	IDA	molecular_function
GO:0030301	cholesterol transport	IEA	biological_process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0031901	early endosome membrane	IEA	cellular_component
GO:0034707	chloride channel complex	IEA	cellular_component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological_process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological_process
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular_function
GO:0043234	protein complex	IDA	cellular_component
GO:0045921	positive regulation of ex ocytosis	IMP	biological_process
GO:0048240	sperm capacitation	ISS	biological_process
GO:0051454	intracellular pH elevatio n	ISS	biological_process
GO:0055037	recycling endosome	IDA	cellular_component
GO:0055085	transmembrane transport	TAS	biological_process
GO:0060081	membrane hyperpolarizatio n	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071320	cellular response to cAMP	ISS	biological_process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological_process
GO:1902476	chloride transmembrane tr ansport	IMP	biological_process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological_process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular_component
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular_function
GO:0005254	chloride channel activity	IEA	molecular_function
GO:0005254	chloride channel activity	IEA	molecular_function
GO:0005254	chloride channel activity	IEA	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IMP	molecular_function
GO:0005254	chloride channel activity	TAS	molecular_function
GO:0005260	channel-conductance-contr olling ATPase activity	IEA	molecular_function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0005769	early endosome	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006695	cholesterol biosynthetic process	IEA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0006810	transport	TAS	biological_process
GO:0006810	transport	TAS	biological_process
GO:0006811	ion transport	IEA	biological_process
GO:0006811	ion transport	IEA	biological_process
GO:0006821	chloride transport	IEA	biological_process
GO:0006821	chloride transport	IEA	biological_process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0015106	bicarbonate transmembrane transporter activity	IEA	molecular_function
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	IEA	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0015701	bicarbonate transport	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016323	basolateral plasma membra ne	NAS	cellular_component
GO:0016324	apical plasma membrane	IEA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0016887	ATPase activity	IEA	molecular_function
GO:0017081	chloride channel regulato r activity	TAS	molecular_function
GO:0019869	chloride channel inhibito r activity	IDA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030165	PDZ domain binding	IDA	molecular_function
GO:0030301	cholesterol transport	IEA	biological_process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0031901	early endosome membrane	IEA	cellular_component
GO:0034707	chloride channel complex	IEA	cellular_component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IEA	biological_process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological_process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological_process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	IEA	molecular_function
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular_function
GO:0043234	protein complex	IDA	cellular_component
GO:0045921	positive regulation of ex ocytosis	IEA	biological_process
GO:0045921	positive regulation of ex ocytosis	IMP	biological_process
GO:0048240	sperm capacitation	IEA	biological_process
GO:0048240	sperm capacitation	ISS	biological_process
GO:0051454	intracellular pH elevatio n	IEA	biological_process
GO:0051454	intracellular pH elevatio n	ISS	biological_process
GO:0055037	recycling endosome	IDA	cellular_component
GO:0055085	transmembrane transport	IEA	biological_process
GO:0055085	transmembrane transport	TAS	biological_process
GO:0060081	membrane hyperpolarizatio n	IEA	biological_process
GO:0060081	membrane hyperpolarizatio n	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071320	cellular response to cAMP	IEA	biological_process
GO:0071320	cellular response to cAMP	ISS	biological_process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IEA	biological_process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological_process
GO:1902476	chloride transmembrane tr ansport	IEA	biological_process
GO:1902476	chloride transmembrane tr ansport	IMP	biological_process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological_process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular_component
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IDA	molecular_function
GO:0005254	chloride channel activity	IMP	molecular_function
GO:0005254	chloride channel activity	TAS	molecular_function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	TAS	molecular_function
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005765	lysosomal membrane	TAS	cellular_component
GO:0005769	early endosome	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006810	transport	TAS	biological_process
GO:0006810	transport	TAS	biological_process
GO:0007585	respiratory gaseous excha nge	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular_function
GO:0016323	basolateral plasma membra ne	NAS	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0016324	apical plasma membrane	IDA	cellular_component
GO:0017081	chloride channel regulato r activity	TAS	molecular_function
GO:0019869	chloride channel inhibito r activity	IDA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030165	PDZ domain binding	IDA	molecular_function
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular_component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological_process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological_process
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular_function
GO:0043234	protein complex	IDA	cellular_component
GO:0045921	positive regulation of ex ocytosis	IMP	biological_process
GO:0048240	sperm capacitation	ISS	biological_process
GO:0051454	intracellular pH elevatio n	ISS	biological_process
GO:0055037	recycling endosome	IDA	cellular_component
GO:0055085	transmembrane transport	TAS	biological_process
GO:0060081	membrane hyperpolarizatio n	ISS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071320	cellular response to cAMP	ISS	biological_process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological_process
GO:1902476	chloride transmembrane tr ansport	IMP	biological_process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological_process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular_component

KEGG pathways

hsa04024  cAMP signaling pathway
hsa04152  AMPK signaling pathway
hsa04530  Tight junction
hsa04976  Bile secretion
hsa04972  Pancreatic secretion
hsa04971  Gastric acid secretion
hsa02010  ABC transporters
hsa05110  Vibrio cholerae infection

Diseases

Associated diseases	References
Absence of the vas deferens	PMID: 9797105
Agenesis of vas deferens	PMID: 9412228
Allergies	PMID: 11243954
Asthenoteratozoospermia	PMID: 18050608
Asthma	PMID: 9654257
Azoospermia	PMID: 10856487
Azoospermia	PMID: 9695373
Bilateral agenesis of the vas deferens	PMID: 16581722
Bilateral congenital ductus deferens aplasia	PMID: 8495645
Bilateral ejaculatory-duct obstruction	PMID: 9345100
Bilateral congenital absence of the vas deferens (CAVD)	PMID: 8473422
Bronchiectasis	OMIM: 602421, PMID: 15151509
Cancer	PMID: 19584075
Cholangitis	PMID: 14567462
Chronic obstructive pulmonary disease (COPD)	PMID: 8105250
Colonic diseases	PMID: 18647844
Congenital absence of vas deferens (CAVD)	PMID: 8834261
Congenital bilateral absence of the vas deferens (CBAVD)	PMID: 22390181
Cryptozoospermia	PMID: 16572913
Cystic fibrosis	KEGG: H00218,OMIM: 602421, PMID: 19952026
Cystic fibrosis	PMID: 7692051
Diabetes	PMID: 10612489
Endometriosis	PMID: 20199104
Hereditary pancreatitis	KEGG: H00933
Hydrosalpinx	PMID: 23061681
Hypertrypsinemia	OMIM: 602421
Idiopathic spermatogenetic failure	PMID: 21250548
Liver disease	PMID: 11333866
Lung disease	PMID: 11069835
Male infertility	PMID: 24850600
Nasal polyposis	PMID: 16075239
Non-obstructive azoospermia (NOA)	PMID: 25617301
Oligoasthenoteratozoospermia	PMID: 16572913
Oligozoospermia	PMID: 18616886
Osteoporosis	PMID: 16713399
Ovarian hyperstimulation syndrome (OHSS)	PMID: 18164141
Pancreatitis	PMID: 12939655
Preeclampsia	PMID: 19481256
Primary testicular failure	PMID: 10655318
Pulmonary disease	PMID: 18652532
Sarcoidosis	PMID: 10980579
Endometriosis	INFBASE20199104
Spermatogenetic defects	PMID: 16414184
Teratozoospermia	PMID: 23998339
Unilateral agenesis of the vas deferens	PMID: 17175965
Urogenital Abnormalities	PMID: 19181743

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20199104	Endometrio sis				Female infertility	PRDX6 CORO1A TAGLN2 VIM CFTR GCR HSF1	Show abstract