CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

No Pathway Network information available for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Pathways in the CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) SuperPath

#	Name	Source	Genes
1	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)	GeneGo (Thomson Reuters)	ABCC9 ASIC3 CFTR CLCA2 FURIN GNA11 GNAQ ITPR1 ITPR2 ITPR3 KCNJ8 KCNN4 KCNQ1 NEDD4 NHERF1 P2RY2 PLCB1 PLCB2 PLCB3 PLCB4 PRSS8 SCNN1A SCNN1B SCNN1D SCNN1G SERPINB8 SPINT1 SPINT2 UBA52 UBB UBC WBP1 WWP2 YAP1 YES1 (see all 35) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	1
2	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
3	GNAQ	G Protein Subunit Alpha Q	Protein Coding	1
4	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
5	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	1
6	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	1
7	KCNJ8	Potassium Inwardly Rectifying Channel Subfamily J Member 8	Protein Coding	1
8	KCNN4	Potassium Calcium-Activated Channel Subfamily N Member 4	Protein Coding	1
9	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	1
10	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	1
11	P2RY2	Purinergic Receptor P2Y2	Protein Coding	1
12	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	1
13	SERPINB8	Serpin Family B Member 8	Protein Coding	1
14	PLCB2	Phospholipase C Beta 2	Protein Coding	1
15	PLCB3	Phospholipase C Beta 3	Protein Coding	1
16	PLCB4	Phospholipase C Beta 4	Protein Coding	1
17	PRSS8	Serine Protease 8	Protein Coding	1
18	SCNN1A	Sodium Channel Epithelial 1 Subunit Alpha	Protein Coding	1
19	SCNN1B	Sodium Channel Epithelial 1 Subunit Beta	Protein Coding	1
20	SCNN1D	Sodium Channel Epithelial 1 Subunit Delta	Protein Coding	1
21	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	1
22	SPINT1	Serine Peptidase Inhibitor, Kunitz Type 1	Protein Coding	1
23	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	1
24	UBB	Ubiquitin B	Protein Coding	1
25	UBC	Ubiquitin C	Protein Coding	1
26	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	1
27	ASIC3	Acid Sensing Ion Channel Subunit 3	Protein Coding	1
28	NHERF1	NHERF Family PDZ Scaffold Protein 1	Protein Coding	1
29	CLCA2	Chloride Channel Accessory 2	Protein Coding	1
30	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	1
31	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
32	SPINT2	Serine Peptidase Inhibitor, Kunitz Type 2	Protein Coding	1
33	WWP2	WW Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	1
34	PLCB1	Phospholipase C Beta 1	Protein Coding	1
35	WBP1	WW Domain Binding Protein 1	Protein Coding	1

Disorders associated with CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Idiopathic bronchiectasis	Enrichment	CFTR, SCNN1A, SCNN1B, SCNN1G	10.15
2	Liddle syndrome 1	Enrichment	SCNN1A, SCNN1B, SCNN1G	7.80
3	Pseudohypoaldosteronism, type ib1, autosomal recessive	Enrichment	SCNN1A, SCNN1B, SCNN1G	7.80
4	Melanoma, uveal	Enrichment	GNA11, GNAQ, PLCB4	6.50
5	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	5.19
6	Cantu syndrome	Enrichment	ABCC9, KCNJ8	4.71
7	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	4.71
8	Brugada syndrome	Enrichment	ABCC9, KCNJ8, SCNN1A	4.41
9	Capillary malformations, congenital	Enrichment	GNA11, GNAQ	4.19
10	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR, SCNN1B	3.64
11	Congenital long qt syndrome	Enrichment	ITPR3, KCNQ1	3.38
12	Wolff-parkinson-white syndrome	Enrichment	ABCC9, KCNQ1	3.12
13	Sudden infant death syndrome	Enrichment	KCNJ8, KCNQ1	3.07
14	Familial atrial fibrillation	Enrichment	ABCC9, KCNQ1	2.76
15	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.59
16	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.59
17	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	Enrichment	NHERF1	2.59
18	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	2.59
19	Bronchiectasis with or without elevated sweat chloride 2	Enrichment	SCNN1A	2.59
20	Bronchiectasis with or without elevated sweat chloride 3	Enrichment	SCNN1G	2.59
21	Sturge-weber syndrome	Enrichment	GNAQ	2.59
22	Intellectual disability and myopathy syndrome	Enrichment	ABCC9	2.59
23	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.59
24	Pseudohypoaldosteronism, type ib2, autosomal recessive	Enrichment	SCNN1B	2.59
25	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.59
26	Liddle syndrome 2	Enrichment	SCNN1G	2.59
27	Liddle syndrome 3	Enrichment	SCNN1A	2.59
28	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.59
29	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	2.59
30	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.59
31	Peeling skin syndrome 5	Enrichment	SERPINB8	2.59
32	Dehydrated hereditary stomatocytosis 2	Enrichment	KCNN4	2.59
33	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.59
34	Pseudohypoaldosteronism, type ib3, autosomal recessive	Enrichment	SCNN1G	2.59
35	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.59
36	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.59
37	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.59
38	Syndromic congenital sodium diarrhea	Enrichment	SPINT2	2.59
39	Long qt syndrome 1	Enrichment	ITPR3, KCNQ1	2.57
40	Cystic fibrosis	Enrichment	CFTR, KCNN4	2.51
41	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.29
42	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	2.29
43	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.29
44	Polymyoclonus, infantile	Enrichment	SCNN1B	2.29
45	Cardiomyopathy, dilated, 1o	Enrichment	ABCC9	2.29
46	Atrial fibrillation, familial, 12	Enrichment	ABCC9	2.29
47	Spondyloepiphyseal dysplasia, nishimura type	Enrichment	WWP2	2.29
48	Hypophosphatemia	Enrichment	NHERF1	2.29
49	Autosomal dominant hypocalcemia	Enrichment	GNA11	2.29
50	Cardiovascular system disease	Enrichment	KCNQ1	2.29
51	Ocular melanoma	Enrichment	PLCB4	2.29
52	Jervell-lange nielsen syndrome	Enrichment	KCNQ1	2.29
53	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	NHERF1	2.29
54	Pseudohypoaldosteronism	Enrichment	SCNN1A	2.29
55	Submucosal cleft palate	Enrichment	UBB	2.29
56	Cleft hard palate	Enrichment	UBB	2.29
57	Gillespie syndrome	Enrichment	ITPR1	2.11
58	Uvula, bifid	Enrichment	UBB	2.11
59	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	SPINT2	2.11
60	Nuchal bleb, familial	Enrichment	CFTR	2.11
61	Cleft soft palate	Enrichment	UBB	2.11
62	Atrial fibrillation, familial, 3	Enrichment	KCNQ1	2.11
63	Peeling skin syndrome 4	Enrichment	SERPINB8	2.11
64	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11	2.11
65	Short qt syndrome 2	Enrichment	KCNQ1	2.11
66	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	Enrichment	KCNN4	1.99
67	Jervell and lange-nielsen syndrome 1	Enrichment	KCNQ1	1.99
68	Auriculocondylar syndrome 1	Enrichment	PLCB4	1.99
69	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.99
70	Long qt syndrome 2	Enrichment	KCNQ1	1.99
71	Peeling skin syndrome 3	Enrichment	SERPINB8	1.99
72	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.99
73	Atrial fibrillation	Enrichment	KCNQ1	1.99
74	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	1.99
75	Pregnancy loss, recurrent 1	Enrichment	KCNQ1	1.99
76	Congenital short qt syndrome	Enrichment	KCNQ1	1.89
77	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ	1.81
78	Kleefstra syndrome 1	Enrichment	ABCC9	1.81
79	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.81
80	Patent ductus arteriosus	Enrichment	ABCC9	1.81
81	Silver-russell syndrome 1	Enrichment	KCNQ1	1.75
82	Fanconi anemia, complementation group c	Enrichment	ABCC9	1.69
83	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.64
84	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.64
85	Nephrolithiasis	Enrichment	NHERF1	1.59
86	Epicanthus	Enrichment	ABCC9	1.52
87	Microphthalmia/coloboma 12	Enrichment	YAP1	1.48
88	Multiple sclerosis	Enrichment	ITPR1	1.45
89	Hereditary chronic pancreatitis	Enrichment	CFTR	1.45
90	Coloboma of macula	Enrichment	YAP1	1.42
91	Anterior segment dysgenesis	Enrichment	ITPR1	1.42
92	Lynch syndrome	Enrichment	CFTR	1.42
93	Pancreatitis, hereditary	Enrichment	CFTR	1.37
94	Beckwith-wiedemann syndrome	Enrichment	KCNQ1	1.34
95	Ear malformation	Enrichment	KCNQ1	1.22
96	Long qt syndrome	Enrichment	KCNQ1	1.11
97	Male infertility	Enrichment	CFTR	1.07
98	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	1.00
99	Centralopathic epilepsy	Enrichment	PLCB1	0.98
100	West syndrome	Enrichment	PLCB1	0.97
101	Spastic ataxia	Enrichment	ITPR1	0.89
102	Familial isolated dilated cardiomyopathy	Enrichment	ABCC9	0.89
103	Myeloma, multiple	Enrichment	YAP1	0.87
104	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR	0.87
105	Rare genetic deafness	Enrichment	KCNQ1	0.73

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Pathway Network for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Member Pathways for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Pathways in the CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) SuperPath

Associated Genes for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Associated Disorders for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Disorders associated with CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) SuperPath

STRING Interaction Network for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Sources for CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)