Gap junction trafficking

Pathway network for the Gap junction trafficking SuperPath

Sources:
  • Reactome
  • GeneGo (Thomson Reuters)

Pathways in the Gap junction trafficking SuperPath

#NameSourceGenes
1Gap junction traffickingReactome
2Cell adhesion Gap junctionsGeneGo (Thomson Reuters)
3Gap junction trafficking and regulationReactome
4Gap junction assemblyReactome
5Gap junction degradationReactome
6Formation of annular gap junctionsReactome
7Regulation of gap junction activityReactome
8Entry of Influenza Virion into Host Cell via EndocytosisReactome

Gene overlap in member pathways for Gap junction trafficking SuperPath

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

Disorders associated with Gap junction trafficking SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1InfluenzaDirect
2LissencephalyEnrichmentACTG1, TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB39.74
3Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB37.69
4Deafness, autosomal recessive 1aEnrichmentGJB2, GJB3, GJB67.09
5TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B7.09
6Gjb2-related autosomal recessive nonsyndromic hearing lossEnrichmentGJB2, GJB3, GJB67.09
7Nonsyndromic hearing lossEnrichmentACTG1, GJB2, GJB3, GJB6, MYO66.42
8Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB36.39
9Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG16.22
10Erythrokeratodermia variabilis et progressiva 1EnrichmentGJA1, GJB3, GJB45.95
11Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, GJB2, GJB3, GJB6, MYO65.94
12Deafness, autosomal recessive 1bEnrichmentGJB2, GJB65.12
13Keratitis ichthyosis and deafness syndromeEnrichmentGJB2, GJB65.12
14Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentGJA1, GJB2, GJB3, GJB6, MYO64.78
15Deafness, x-linked 2EnrichmentGJB2, GJB64.64
16X-linked mixed hearing loss with perilymphatic gusherEnrichmentGJB2, GJB64.64
17Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.80
18Palmoplantar keratoderma and congenital alopecia 1EnrichmentGJA13.66
19Hypoplastic left heart syndrome 1EnrichmentGJA13.66
20Oculodentodigital dysplasiaEnrichmentGJA13.66
21Craniometaphyseal dysplasia, autosomal recessiveEnrichmentGJA13.66
22Oculodentodigital dysplasia, autosomal recessiveEnrichmentGJA13.66
23Thrombocytopenia 6EnrichmentSRC3.66
24Erythrokeratodermia variabilis et progressiva 3EnrichmentGJA13.66
25Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B3.57
26Non-syndromic genetic deafnessEnrichmentACTG1, GJB2, MYO63.54
27Cataract 30, multiple typesEnrichmentGJA3, GJA83.47
28Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB13.47
29Hallermann-streiff syndromeEnrichmentGJA13.35
30Syndactyly, type iiiEnrichmentGJA13.35
31Syndactyly, type vEnrichmentGJA13.35
32Craniometaphyseal dysplasiaEnrichmentGJA13.35
33Baraitser-winter syndrome 1EnrichmentACTB3.09
34Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM23.09
35Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB3.09
36Becker nevus syndromeEnrichmentACTB3.09
37Dystonia-deafness syndrome 1EnrichmentACTB3.09
38Lethal congenital contracture syndrome 5EnrichmentDNM23.09
39Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB3.09
40Baraitser-winter syndromeEnrichmentACTB3.09
41Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL13.09
42Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM23.09
43Congenital smooth muscle hamartomaEnrichmentACTB3.09
44Developmental malformations-deafness-dystonia syndromeEnrichmentACTB3.09
45Deafness, autosomal dominant 22EnrichmentMYO63.05
46Deafness, autosomal recessive 37EnrichmentMYO63.05
47Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO63.05
48Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO63.05
49Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM13.05
50Cleft upper lipEnrichmentGJA12.96
51Early-onset nuclear cataractEnrichmentGJA3, GJA82.94
52MyelofibrosisEnrichmentSRC2.81
53Deafness, autosomal dominant 20EnrichmentACTG12.79
54Baraitser-winter syndrome 2EnrichmentACTG12.79
55Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M12.79
56Hypoplastic left heart syndromeEnrichmentGJA12.75
57Isolated congenital microcephalyEnrichmentOCLN, TUBA3E2.73
58Rare genetic deafnessEnrichmentACTG1, MYO62.67
59Myopathy, centronuclear, x-linkedEnrichmentDNM22.61
60Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC2.61
61Developmental and epileptic encephalopathy 31bEnrichmentDNM12.61
62Bart-pumphrey syndromeEnrichmentGJB22.55
63Clouston syndromeEnrichmentGJB62.55
64Vohwinkel syndromeEnrichmentGJB22.55
65Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.55
66Cataract 14, multiple typesEnrichmentGJA32.55
67Deafness, autosomal dominant 3aEnrichmentGJB22.55
68Lymphatic malformation 3EnrichmentGJC22.55
69Keratitis-ichthyosis-deafness syndrome, autosomal dominantEnrichmentGJB22.55
70Deafness, autosomal dominant 3bEnrichmentGJB62.55
71Cataract 1, multiple typesEnrichmentGJA82.55
72Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.55
73Deafness, autosomal dominant 2bEnrichmentGJB32.55
74Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.55
75Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.55
76Ichthyosis, hystrix-like, with deafnessEnrichmentGJB22.55
77Spastic paraplegia 44, autosomal recessiveEnrichmentGJC22.55
78Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.55
79Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.55
80Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.55
81Hemangioma of liverEnrichmentGJA42.55
82Erythrokeratodermia variabilis et progressiva 2EnrichmentGJB42.55
83Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.55
84Gjc2-related late-onset primary lymphedemaEnrichmentGJC22.55
85Neuropathy with hearing impairmentEnrichmentGJB32.55
86Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.55
87Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.55
88Congenital myopathy 26EnrichmentTUBA4A2.55
89Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.55
90Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.55
91Porokeratotic eccrine ostial and dermal duct nevusEnrichmentGJB22.55
92Autosomal dominant nonsyndromic hearing loss 3aEnrichmentGJB22.55
93Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.55
94Skin hemangiomaEnrichmentGJA42.55
95OsteoporosisEnrichmentSRC2.51
96Congenital nervous system abnormalityEnrichmentGJC2, TUBA1A, TUBB4A2.49
97Nervous system diseaseEnrichmentGJC2, TUBA1A, TUBB4A2.49
98Aminoacylase 1 deficiencyEnrichmentACTB2.49
99Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC2.49
100Pseudomyogenic hemangioendotheliomaEnrichmentACTB2.49
101Ear malformationEnrichmentGJB2, MYO62.47
102Developmental and epileptic encephalopathy 31aEnrichmentDNM12.39
103Coloboma of choroid and retinaEnrichmentACTG12.39
104Skin creases, congenital symmetric circumferential, 1EnrichmentTUBB2.39
105Pseudo-torch syndrome 1EnrichmentOCLN2.39
106Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.39
107Deafness, autosomal dominant 51EnrichmentTJP22.39
108Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.39
109Cortical dysplasia, complex, with other brain malformations 6EnrichmentTUBB2.39
110Myopathy, scapulohumeroperonealEnrichmentACTA12.39
111Pulmonary hypertension, primary, 3EnrichmentCAV12.39
112Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.39
113Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.39
114Lipodystrophy, familial partial, type 7EnrichmentCAV12.39
115Spinocerebellar ataxia 14EnrichmentPRKCG2.39
116Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.39
117Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.39
118Autosomal dominant familial visceral neuropathyEnrichmentACTG22.39
119Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.39
120Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.39
121Zebra body myopathyEnrichmentACTA12.39
122Actin-accumulation myopathyEnrichmentACTA12.39
123Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.39
124Myopathic intestinal pseudoobstructionEnrichmentACTG22.39
125Actg2 visceral myopathyEnrichmentACTG22.39
126MicrocephalyEnrichmentACTB, ACTG12.37
127Myopathy, centronuclear, 1EnrichmentDNM22.31
128Inflammatory myofibroblastic tumorEnrichmentCLTC2.31
129Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO62.28
130Cerebral palsyEnrichmentTUBA1A, TUBB4A2.28
131Atrial standstill 1EnrichmentGJA52.25
132Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A2.25
133Spinocerebellar ataxia, x-linked 1EnrichmentGJB12.25
134Congenital cataracts, facial dysmorphism, and neuropathyEnrichmentGJA32.25
135Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A2.25
136Atrial fibrillation, familial, 11EnrichmentGJA52.25
137Deafness, autosomal recessive 104EnrichmentGJB22.25
138Keratoconus 9EnrichmentTUBA3D2.25
139Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A2.25
140Lissencephaly 3EnrichmentTUBA1A2.25
141Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB32.25
142Torsion dystonia 4EnrichmentTUBB4A2.25
143Hereditary palmoplantar keratodermaEnrichmentGJB22.25
144Continuous spikes and waves during sleepEnrichmentTUBA1A2.25
145Noonan syndrome 3EnrichmentCLTC2.25
146Renal cell carcinoma with mit translocationsEnrichmentCLTC2.25
147Lennox-gastaut syndromeEnrichmentDNM12.19
148Myoclonic-atonic epilepsyEnrichmentAP2M12.14
149Cat eye syndromeEnrichmentACTG12.09
150Aortic aneurysm, familial thoracic 2EnrichmentACTA22.09
151Cardiomyopathy, dilated, 1rEnrichmentACTC12.09
152Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC12.09
153Smooth muscle dysfunction syndromeEnrichmentACTA22.09
154Aortic aneurysm, familial thoracic 6EnrichmentACTA22.09
155Cholestasis, progressive familial intrahepatic, 4EnrichmentTJP22.09
156Moyamoya disease 5EnrichmentACTA22.09
157Atrial septal defect 5EnrichmentACTC12.09
158Multiple benign circumferential skin creases on limbsEnrichmentTUBB2.09
159Intestinal obstructionEnrichmentACTG22.09
160Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB12.08
161Keratoderma, palmoplantar, with deafnessEnrichmentGJB22.08
162Pelizaeus-merzbacher diseaseEnrichmentGJC22.08
163Ifap syndrome 1, with or without bresheck syndromeEnrichmentGJB22.08
164Charcot-marie-tooth disease, x-linked dominant, 1EnrichmentGJB12.08
165Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A2.08
166Leukodystrophy, hypomyelinating, 2EnrichmentGJC22.08
167Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB82.08
168Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A2.08
169SclerocorneaEnrichmentGJA82.08
170Pelizeaus-merzbacher spectrum disorderEnrichmentGJC22.08
171Charcot-marie-tooth diseaseEnrichmentDNM2, GJB12.02
172Spastic ataxiaEnrichmentGJC2, TUBB32.02
173Fetal akinesia deformation sequence 1EnrichmentACTA1, TUBA1A2.01
174Stereotypic movement disorderEnrichmentDNM11.98
175ThrombocytopeniaEnrichmentSRC1.98
176West syndromeEnrichmentDNM1, TUBA1A1.96
177Hypercholanemia, familial 1EnrichmentTJP21.92
178Distal arthrogryposisEnrichmentACTA1, ACTC11.90
179Hypertrophic neuropathy of dejerine-sottasEnrichmentGJB11.86
180Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.86
181Sensory peripheral neuropathyEnrichmentGJB11.86
182Nemaline myopathy 2EnrichmentACTA11.79
183Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.79
184Autoimmune lymphoproliferative syndromeEnrichmentACTA21.79
185Hereditary ataxiaEnrichmentPRKCG1.79
186Intermediate nemaline myopathyEnrichmentACTA11.79
187Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.78
188Deafness, autosomal recessive 12EnrichmentGJB21.78
189Pain disorderEnrichmentGJB11.78
190Early myoclonic encephalopathyEnrichmentTUBA1A1.78
191Early-onset sutural cataractEnrichmentGJA81.78
192Centronuclear myopathyEnrichmentDNM21.77
193Colorectal cancerEnrichmentSRC1.72
194Visceral myopathy 1EnrichmentACTG21.70
195Congenital myopathy 3 with rigid spineEnrichmentACTA11.70
196Diffuse cutaneous systemic sclerosisEnrichmentCAV11.70
197Severe congenital nemaline myopathyEnrichmentACTA11.70
198CryptorchidismEnrichmentTUBA1A1.65
199Cataract - microcornea syndromeEnrichmentGJA81.65
200Early-onset posterior polar cataractEnrichmentGJA31.65
201Branchiootorenal syndrome 1EnrichmentTJP21.62
202Moyamoya disease 1EnrichmentACTA21.62
203Intestinal pseudo-obstructionEnrichmentACTG21.62
204Limited sclerodermaEnrichmentCAV11.62
205Familial hypercholanemiaEnrichmentTJP21.62
206Typical nemaline myopathyEnrichmentACTA11.62
207Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.60
208CakutEnrichmentACTG11.56
209Branchiootorenal syndromeEnrichmentTJP21.55
210Childhood-onset nemaline myopathyEnrichmentACTA11.55
211MyopathyEnrichmentDNM21.50
212Congenital hypothyroidismEnrichmentTUBB11.48
213Inflammatory bowel disease 1EnrichmentPRKCQ1.44
214Primary biliary cholangitisEnrichmentTJP21.44
215Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC1.40
216Stroke, ischemicEnrichmentPRKCH1.40
217Nemaline myopathyEnrichmentACTA11.40
218Corpus callosum, agenesis ofEnrichmentTUBA1A1.38
219Anterior segment dysgenesisEnrichmentGJA81.38
220Isolated corpus callosum agenesisEnrichmentTUBA1A1.38
221Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.38
222Dilated cardiomyopathyEnrichmentACTA1, ACTC11.38
223Heritable pulmonary arterial hypertensionEnrichmentCAV11.36
224Dandy-walker syndromeEnrichmentTUBA1A1.33
225Cataract 44EnrichmentGJA81.33
226Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.29
227Lung cancer susceptibility 3EnrichmentACTA21.26
228Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.23
229MicrophthalmiaEnrichmentGJA81.22
230Noonan syndrome 1EnrichmentGJB21.20
231Hydrocephalus, congenital, 1EnrichmentTUBB1.20
232Familial atrial fibrillationEnrichmentGJA51.19
233Tetralogy of fallotEnrichmentGJA51.15
234Auditory neuropathyEnrichmentTUBB4A1.15
235Neuromuscular diseaseEnrichmentACTA11.15
236Patent foramen ovaleEnrichmentACTC11.15
237Congenital myopathyEnrichmentACTA11.13
238Peripheral nervous system diseaseEnrichmentGJB11.07
239NeuropathyEnrichmentGJB11.07
240DystoniaEnrichmentGJC21.03
241Hydrops fetalis, nonimmuneEnrichmentACTA11.00
242Optic atrophy plus syndromeEnrichmentTUBB60.93
243Non-immune hydrops fetalisEnrichmentACTA10.93
244Lung cancerEnrichmentACTA20.91
245Connective tissue diseaseEnrichmentACTA20.91
246Familial hypertrophic cardiomyopathyEnrichmentACTC10.90
247Sensorineural hearing lossEnrichmentGJB20.90
248Left ventricular noncompactionEnrichmentACTC10.88
249Hypertrophic cardiomyopathyEnrichmentACTC10.79
250Deafness, autosomal recessiveEnrichmentGJB20.79
251Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.79
252Autosomal recessive nonsyndromic deafnessEnrichmentGJB20.78
253Familial isolated dilated cardiomyopathyEnrichmentACTC10.71
254Leber plus diseaseEnrichmentTUBB4B0.63
255Autism spectrum disorderEnrichmentGJB20.58

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