Copper homeostasis

Pathway network for the Copper homeostasis SuperPath

Sources:

WikiPathways
Reactome

Pathways in the Copper homeostasis SuperPath

#	Name	Source	Genes
1	Copper homeostasis	WikiPathways	ADAM10 ADAM17 ADAM9 AKT1 APC APP ATOX1 ATP7A ATP7B BACE1 CASP3 CCND1 CCS COMMD1 COX11 COX17 FOXO1 FOXO3 GSK3B JUN MAPT MDM2 MT1A MT1B MT1E MT1F MT1G MT1H MT1X MT2A MT3 MT4 MTF1 MTF2 PIK3CA PRNP PTEN SCO1 SLC11A2 SLC31A1 SLC31A2 SOD1 SOD3 SP1 STEAP1 STEAP2 STEAP3 STEAP4 TP53 XAF1 XIAP (see all 51) (see less)
2	Copper metabolism	WikiPathways	ATP7A ATP7B SLC11A2 SLC31A1
3	Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)	Reactome	SLC11A2

Gene overlap in member pathways for Copper homeostasis SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	SLC11A2	Solute Carrier Family 11 Member 2	Protein Coding	3
2	ATP7B	ATPase Copper Transporting Beta	Protein Coding	2
3	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	2
4	SLC31A1	Solute Carrier Family 31 Member 1	Protein Coding	2
5	CCS	Copper Chaperone For Superoxide Dismutase	Protein Coding	1
6	ADAM9	ADAM Metallopeptidase Domain 9	Protein Coding	1
7	MT4	Metallothionein 4	Protein Coding	1
8	CASP3	Caspase 3	Protein Coding	1
9	STEAP4	STEAP4 Metalloreductase	Protein Coding	1
10	TP53	Tumor Protein P53	Protein Coding	1
11	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	1
12	SP1	Sp1 Transcription Factor	Protein Coding	1
13	SOD3	Superoxide Dismutase 3	Protein Coding	1
14	SOD1	Superoxide Dismutase 1	Protein Coding	1
15	SCO1	Synthesis Of Cytochrome C Oxidase 1	Protein Coding	1
16	CCND1	Cyclin D1	Protein Coding	1
17	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
18	PRNP	Prion Protein (Kanno Blood Group)	Protein Coding	1
19	STEAP3	STEAP3 Metalloreductase	Protein Coding	1
20	XAF1	XIAP Associated Factor 1	Protein Coding	1
21	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
22	ATOX1	Antioxidant 1 Copper Chaperone	Protein Coding	1
23	MTF1	Metal Regulatory Transcription Factor 1	Protein Coding	1
24	MT3	Metallothionein 3	Protein Coding	1
25	MT2A	Metallothionein 2A	Protein Coding	1
26	MT1G	Metallothionein 1G	Protein Coding	1
27	MT1F	Metallothionein 1F	Protein Coding	1
28	MT1E	Metallothionein 1E	Protein Coding	1
29	MT1A	Metallothionein 1A	Protein Coding	1
30	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
31	MAPT	Microtubule Associated Protein Tau	Protein Coding	1
32	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
33	APP	Amyloid Beta Precursor Protein	Protein Coding	1
34	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
35	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
36	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
37	BACE1	Beta-Secretase 1	Protein Coding	1
38	FOXO3	Forkhead Box O3	Protein Coding	1
39	FOXO1	Forkhead Box O1	Protein Coding	1
40	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
41	COMMD1	Copper Metabolism Domain Containing 1	Protein Coding	1
42	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
43	COX17	Cytochrome C Oxidase Copper Chaperone COX17	Protein Coding	1
44	COX11	Cytochrome C Oxidase Copper Chaperone COX11	Protein Coding	1
45	SLC31A2	Solute Carrier Family 31 Member 2	Protein Coding	1
46	MT1X	Metallothionein 1X	Protein Coding	1
47	MT1H	Metallothionein 1H	Protein Coding	1
48	MT1B	Metallothionein 1B	Protein Coding	1
49	STEAP1	STEAP Family Member 1	Protein Coding	1
50	STEAP2	STEAP2 Metalloreductase	Protein Coding	1
51	MTF2	Metal Response Element Binding Transcription Factor 2	Protein Coding	1

Disorders associated with Copper homeostasis SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Hypochromic microcytic anemia	Direct
2	Breast cancer	Enrichment	AKT1, APC, JUN, PIK3CA, PTEN, TP53	6.46
3	Hereditary breast carcinoma	Enrichment	AKT1, APC, PIK3CA, PTEN, TP53	6.22
4	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA, TP53	6.00
5	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	5.38
6	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	4.97
7	Colorectal cancer	Enrichment	AKT1, APC, CCND1, PIK3CA, TP53	4.74
8	Gastric cancer	Enrichment	APC, PIK3CA, PTEN, TP53	4.71
9	Ovarian cancer	Enrichment	AKT1, APC, PIK3CA, PTEN, TP53	4.43
10	Diffuse large b-cell lymphoma	Enrichment	FOXO1, PTEN, TP53	4.33
11	Hepatocellular carcinoma	Enrichment	APC, PIK3CA, TP53	4.13
12	Rhabdomyosarcoma 2	Enrichment	FOXO1, TP53	3.86
13	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	3.86
14	Hemimegalencephaly	Enrichment	PIK3CA, PTEN	3.86
15	Bladder cancer	Enrichment	PIK3CA, PTEN, TP53	3.77
16	Prostate cancer	Enrichment	PIK3CA, PTEN, TP53	3.77
17	Li-fraumeni syndrome	Enrichment	MDM2, TP53	3.69
18	Cowden syndrome 1	Enrichment	PIK3CA, PTEN	3.69
19	Squamous cell carcinoma, head and neck	Enrichment	PTEN, TP53	3.54
20	Gallbladder cancer	Enrichment	PIK3CA, TP53	3.54
21	Wolff syndrome	Enrichment	ATP7B	3.53
22	Neuronopathy, distal hereditary motor, x-linked	Enrichment	ATP7A	3.53
23	Anemia, hypochromic microcytic, with iron overload 1	Enrichment	SLC11A2	3.53
24	Neurodegeneration and seizures due to copper transport defect	Enrichment	SLC31A1	3.53
25	Occipital horn syndrome	Enrichment	ATP7A	3.53
26	Intellectual disability, wolff type	Enrichment	ATP7B	3.53
27	Adult hepatocellular carcinoma	Enrichment	PIK3CA, TP53	3.31
28	Developmental and epileptic encephalopathy 93	Enrichment	ATP7B	3.23
29	Deafness, autosomal recessive 109	Enrichment	ATP7B	3.23
30	Leukemia, chronic lymphocytic	Enrichment	CCND1, TP53	3.21
31	Wilson disease	Enrichment	ATP7B	3.05
32	Menkes disease	Enrichment	ATP7A	3.05
33	Breast-ovarian cancer, familial 5	Enrichment	ATP7B	3.05
34	Lip and oral cavity carcinoma	Enrichment	PIK3CA, TP53	3.05
35	Alzheimer's disease	Enrichment	APP, MAPT	2.98
36	Rhabdomyosarcoma	Enrichment	PTEN, TP53	2.79
37	Alzheimer disease, familial, 1	Enrichment	APP, MAPT	2.74
38	Endometrial cancer	Enrichment	PIK3CA, PTEN	2.56
39	Hepatoblastoma	Enrichment	APC, TP53	2.56
40	Macrodactyly	Enrichment	PIK3CA	2.42
41	Proteus syndrome	Enrichment	AKT1	2.42
42	Vacterl association with hydrocephalus	Enrichment	PTEN	2.42
43	Fatal familial insomnia	Enrichment	PRNP	2.42
44	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	2.42
45	Cone-rod dystrophy 9	Enrichment	ADAM9	2.42
46	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.42
47	Gerstmann-straussler disease	Enrichment	PRNP	2.42
48	Cowden syndrome 5	Enrichment	PIK3CA	2.42
49	Kuru	Enrichment	PRNP	2.42
50	Accelerated tumor formation	Enrichment	MDM2	2.42
51	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.42
52	Lessel-kubisch syndrome	Enrichment	MDM2	2.42
53	Bone marrow failure syndrome 5	Enrichment	TP53	2.42
54	Mitochondrial complex iv deficiency, nuclear type 23	Enrichment	COX11	2.42
55	Spongiform encephalopathy with neuropsychiatric features	Enrichment	PRNP	2.42
56	Papilloma of choroid plexus	Enrichment	TP53	2.42
57	Parkinson-dementia syndrome	Enrichment	MAPT	2.42
58	Basal cell carcinoma 7	Enrichment	TP53	2.42
59	Anaplastic thyroid carcinoma	Enrichment	TP53	2.42
60	Supranuclear palsy, progressive, 1	Enrichment	MAPT	2.42
61	Huntington disease-like 1	Enrichment	PRNP	2.42
62	Papillary tumor of the pineal region	Enrichment	PTEN	2.42
63	Alzheimer disease 18	Enrichment	ADAM10	2.42
64	Progressive supranuclear palsy	Enrichment	MAPT	2.42
65	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.42
66	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.42
67	Cerebral amyloid angiopathy, app-related	Enrichment	APP	2.42
68	Familial alzheimer-like prion disease	Enrichment	PRNP	2.42
69	Cowden syndrome 6	Enrichment	AKT1	2.42
70	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.42
71	Glioma susceptibility 2	Enrichment	PTEN	2.42
72	Ductal carcinoma in situ	Enrichment	TP53	2.42
73	Prion disease	Enrichment	PRNP	2.42
74	Classic progressive supranuclear palsy syndrome	Enrichment	MAPT	2.42
75	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.42
76	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.42
77	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.42
78	Atypical progressive supranuclear palsy syndrome	Enrichment	MAPT	2.42
79	Hypospadias	Enrichment	PIK3CA	2.42
80	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.42
81	Choroid plexus cancer	Enrichment	TP53	2.42
82	Rare venous malformation	Enrichment	PIK3CA	2.42
83	Prp systemic amyloidosis	Enrichment	PRNP	2.42
84	Familial adenomatous polyposis	Enrichment	APC	2.42
85	Diaphragmatic eventration	Enrichment	PIK3CA	2.42
86	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.42
87	Inherited human prion disease	Enrichment	PRNP	2.42
88	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.42
89	Rare combined vascular malformation	Enrichment	PIK3CA	2.42
90	Cavernous lymphangioma	Enrichment	PIK3CA	2.42
91	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.42
92	Gardner syndrome	Enrichment	APC	2.42
93	5q22 microdeletion syndrome	Enrichment	APC	2.42
94	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.42
95	Attenuated familial adenomatous polyposis	Enrichment	APC	2.42
96	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.42
97	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.42
98	Macrodactyly of toe	Enrichment	PIK3CA	2.42
99	Inherited creutzfeldt-jakob disease	Enrichment	PRNP	2.42
100	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	2.12
101	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.12
102	Cervical cancer	Enrichment	TP53	2.12
103	Pick disease of brain	Enrichment	MAPT	2.12
104	Keratosis, seborrheic	Enrichment	PIK3CA	2.12
105	Creutzfeldt-jakob disease	Enrichment	PRNP	2.12
106	Anemia, hypochromic microcytic, with iron overload 2	Enrichment	STEAP3	2.12
107	Noonan syndrome 8	Enrichment	PIK3CA	2.12
108	Lymphoma, hodgkin, classic	Enrichment	TP53	2.12
109	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.12
110	Congenital fibrosarcoma	Enrichment	TP53	2.12
111	Li-fraumeni syndrome 1	Enrichment	TP53	2.12
112	Sarcoma	Enrichment	TP53	2.12
113	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	2.12
114	Spastic tetraplegia and axial hypotonia, progressive	Enrichment	SOD1	2.12
115	Periampullary adenoma	Enrichment	APC	2.12
116	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	2.12
117	Cervix carcinoma	Enrichment	TP53	2.12
118	Hodgkin's lymphoma	Enrichment	TP53	2.12
119	Mitochondrial complex iv deficiency, nuclear type 4	Enrichment	SCO1	2.12
120	Vacterl with hydrocephalus	Enrichment	PTEN	2.12
121	Juvenile polyposis of infancy	Enrichment	PTEN	2.12
122	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.12
123	Hirschsprung disease 1	Enrichment	ATP7A	2.07
124	Desmoid disease, hereditary	Enrichment	APC	1.95
125	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.95
126	Osteogenic sarcoma	Enrichment	TP53	1.95
127	Nasopharyngeal carcinoma	Enrichment	TP53	1.95
128	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA	1.95
129	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.95
130	Desmoid tumor	Enrichment	APC	1.95
131	Dedifferentiated liposarcoma	Enrichment	MDM2	1.95
132	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.95
133	Anaplastic astrocytoma	Enrichment	TP53	1.95
134	Squamous cell carcinoma	Enrichment	TP53	1.95
135	Adenocarcinoma	Enrichment	TP53	1.95
136	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.95
137	Bone osteosarcoma	Enrichment	TP53	1.95
138	Colon adenocarcinoma	Enrichment	APC	1.95
139	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	1.95
140	Well-differentiated liposarcoma	Enrichment	MDM2	1.95
141	Keratoacanthoma	Enrichment	PIK3CA	1.95
142	Apc-associated polyposis conditions	Enrichment	APC	1.95
143	Inherited cancer-predisposing syndrome	Enrichment	APC, PTEN, TP53	1.87
144	Dowling-degos disease 1	Enrichment	ADAM10	1.83
145	Small cell cancer of the lung	Enrichment	TP53	1.83
146	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.83
147	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	1.83
148	Frontotemporal dementia 2	Enrichment	PRNP	1.83
149	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.83
150	Mantle cell lymphoma	Enrichment	CCND1	1.83
151	Lung sarcomatoid carcinoma	Enrichment	TP53	1.83
152	Cerebrovascular disease	Enrichment	PIK3CA	1.83
153	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.83
154	Craniopharyngioma	Enrichment	APC	1.83
155	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.83
156	Glioma	Enrichment	PTEN	1.83
157	Spastic ataxia	Enrichment	ATP7B	1.81
158	Hereditary breast ovarian cancer syndrome	Enrichment	PTEN, TP53	1.74
159	Capillary malformations, congenital	Enrichment	PIK3CA	1.73
160	Von hippel-lindau syndrome	Enrichment	CCND1	1.73
161	Macrocephaly/autism syndrome	Enrichment	PTEN	1.73
162	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	SOD1	1.73
163	Familial adenomatous polyposis 1	Enrichment	APC	1.73
164	Cox deficiency, infantile mitochondrial myopathy	Enrichment	SCO1	1.73
165	Lymphoma	Enrichment	TP53	1.73
166	Hemangioma	Enrichment	PTEN	1.73
167	Dementia	Enrichment	MAPT	1.73
168	Myeloma, multiple	Enrichment	CCND1, TP53	1.73
169	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MAPT, SOD1	1.70
170	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.65
171	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.65
172	Adrenocortical carcinoma	Enrichment	TP53	1.65
173	Lung squamous cell carcinoma	Enrichment	PIK3CA	1.65
174	Esophageal cancer	Enrichment	TP53	1.58
175	Nevus, epidermal	Enrichment	PIK3CA	1.58
176	Thyroid cancer, nonmedullary, 2	Enrichment	PTEN	1.58
177	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	1.58
178	Semantic dementia	Enrichment	MAPT	1.58
179	Alzheimer's disease 1	Enrichment	APP	1.58
180	Essential thrombocythemia	Enrichment	TP53	1.58
181	Motor neuron disease	Enrichment	SOD1	1.58
182	Follicular thyroid carcinoma	Enrichment	PTEN	1.58
183	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.58
184	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.58
185	Glioma susceptibility 1	Enrichment	TP53	1.53
186	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.53
187	Arteriovenous malformation	Enrichment	PIK3CA	1.48
188	Progressive non-fluent aphasia	Enrichment	MAPT	1.48
189	Primary hyperaldosteronism	Enrichment	TP53	1.48
190	Colonic benign neoplasm	Enrichment	APC	1.48
191	Behavioral variant of frontotemporal dementia	Enrichment	MAPT	1.48
192	Amyotrophic lateral sclerosis 1	Enrichment	SOD1	1.43
193	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.43
194	Melanoma	Enrichment	PTEN	1.43
195	Familial colorectal cancer	Enrichment	TP53	1.43
196	Frontotemporal dementia 1	Enrichment	MAPT	1.39
197	Meningioma, familial	Enrichment	PTEN	1.39
198	Myelodysplastic syndrome	Enrichment	TP53	1.39
199	Lung non-small cell carcinoma	Enrichment	PIK3CA	1.39
200	Uterine corpus cancer	Enrichment	PTEN	1.39
201	Medulloblastoma	Enrichment	APC	1.29
202	Lung cancer susceptibility 3	Enrichment	TP53	1.29
203	Lynch syndrome	Enrichment	PIK3CA	1.26
204	Gliosarcoma	Enrichment	TP53	1.23
205	Giant cell glioblastoma	Enrichment	TP53	1.21
206	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	SCO1	1.10
207	Diamond-blackfan anemia 1	Enrichment	TP53	1.08
208	Parkinson disease, late-onset	Enrichment	MAPT	1.06
209	Autoinflammatory disease	Enrichment	XIAP	1.06
210	Pancreatic cancer	Enrichment	TP53	1.05
211	Lung cancer	Enrichment	PIK3CA	0.94
212	Diamond-blackfan anemia	Enrichment	TP53	0.90
213	Leukemia, acute myeloid	Enrichment	TP53	0.85
214	Hypertelorism	Enrichment	PIK3CA	0.75
215	Cone-rod dystrophy 2	Enrichment	ADAM9	0.65
216	Congenital nervous system abnormality	Enrichment	PTEN	0.48
217	Nervous system disease	Enrichment	PTEN	0.48
218	Autism spectrum disorder	Enrichment	PTEN	0.47
219	Retinitis pigmentosa	Enrichment	ADAM9	0.26
220	Hereditary retinal dystrophy	Enrichment	ADAM9	0.17
221	Fundus dystrophy	Enrichment	ADAM9	0.17

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

Copper homeostasis

Pathway Network for Copper homeostasis

Pathway network for the Copper homeostasis SuperPath

Member Pathways for Copper homeostasis

Pathways in the Copper homeostasis SuperPath

Gene overlap in member pathways for Copper homeostasis SuperPath

Associated Genes for Copper homeostasis

Associated Disorders for Copper homeostasis

Disorders associated with Copper homeostasis SuperPath

STRING Interaction Network for Copper homeostasis

Sources for Copper homeostasis