Proximal tubule transport

Pathway network for the Proximal tubule transport SuperPath

Sources:

WikiPathways
Reactome

Pathways in the Proximal tubule transport SuperPath

#	Name	Source	Genes
1	Proximal tubule transport	WikiPathways	ABCB1 ABCC2 ABCC4 ABCG2 AQP1 ATP1A1 ATP1B1 ATP6V0A4 ATP6V0B ATP6V0C ATP6V0D2 ATP6V0E1 ATP6V1A ATP6V1B1 ATP6V1C1 ATP6V1D ATP6V1E1 ATP6V1F ATP6V1G1 ATP6V1H CA2 CA4 CLTRN FXYD2 SLC12A4 SLC13A3 SLC16A10 SLC1A1 SLC20A2 SLC22A11 SLC22A2 SLC22A6 SLC22A7 SLC22A8 SLC26A6 SLC2A1 SLC2A2 SLC34A1 SLC34A3 SLC36A2 SLC3A1 SLC3A2 SLC47A1 SLC47A2 SLC4A2 SLC4A4 SLC5A1 SLC5A2 SLC5A5 SLC5A8 SLC6A18 SLC6A19 SLC6A20 SLC7A7 SLC7A8 SLC7A9 SLC9A3 (see all 57) (see less)
2	Amino acid transport defects (IEMs)	WikiPathways	CLTRN SLC1A1 SLC36A2 SLC3A1 SLC3A2 SLC6A19 SLC6A20 SLC7A7 SLC7A9 (see all 9) (see less)
3	Defective SLC7A7 causes lysinuric protein intolerance (LPI)	Reactome	SLC3A2 SLC7A7
4	Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)	Reactome	SLC1A1

Gene overlap in member pathways for Proximal tubule transport SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	SLC7A7	Solute Carrier Family 7 Member 7	Protein Coding	3
2	SLC3A2	Solute Carrier Family 3 Member 2	Protein Coding	3
3	SLC1A1	Solute Carrier Family 1 Member 1	Protein Coding	3
4	SLC3A1	Solute Carrier Family 3 Member 1	Protein Coding	2
5	CLTRN	Collectrin, Amino Acid Transport Regulator	Protein Coding	2
6	SLC6A20	Solute Carrier Family 6 Member 20	Protein Coding	2
7	SLC6A19	Solute Carrier Family 6 Member 19	Protein Coding	2
8	SLC36A2	Solute Carrier Family 36 Member 2	Protein Coding	2
9	SLC7A9	Solute Carrier Family 7 Member 9	Protein Coding	2
10	CA4	Carbonic Anhydrase 4	Protein Coding	1
11	ABCG2	ATP Binding Cassette Subfamily G Member 2 (JR Blood Group)	Protein Coding	1
12	SLC22A8	Solute Carrier Family 22 Member 8	Protein Coding	1
13	SLC22A6	Solute Carrier Family 22 Member 6	Protein Coding	1
14	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	1
15	CA2	Carbonic Anhydrase 2	Protein Coding	1
16	SLC22A2	Solute Carrier Family 22 Member 2	Protein Coding	1
17	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	1
18	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	1
19	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	1
20	SLC5A5	Solute Carrier Family 5 Member 5	Protein Coding	1
21	SLC5A2	Solute Carrier Family 5 Member 2	Protein Coding	1
22	SLC5A1	Solute Carrier Family 5 Member 1	Protein Coding	1
23	SLC4A2	Solute Carrier Family 4 Member 2	Protein Coding	1
24	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1
25	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	1
26	SLC26A6	Solute Carrier Family 26 Member 6	Protein Coding	1
27	SLC47A1	Solute Carrier Family 47 Member 1	Protein Coding	1
28	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1
29	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	1
30	ABCB1	ATP Binding Cassette Subfamily B Member 1	Protein Coding	1
31	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	1
32	ATP6V1D	ATPase H+ Transporting V1 Subunit D	Protein Coding	1
33	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	1
34	FXYD2	FXYD Domain Containing Ion Transport Regulator 2	Protein Coding	1
35	ATP1B1	ATPase Na+/K+ Transporting Subunit Beta 1	Protein Coding	1
36	ATP1A1	ATPase Na+/K+ Transporting Subunit Alpha 1	Protein Coding	1
37	AQP1	Aquaporin 1 (Colton Blood Group)	Protein Coding	1
38	SLC6A18	Solute Carrier Family 6 Member 18	Protein Coding	1
39	ATP6V0D2	ATPase H+ Transporting V0 Subunit D2	Protein Coding	1
40	SLC7A8	Solute Carrier Family 7 Member 8	Protein Coding	1
41	SLC5A8	Solute Carrier Family 5 Member 8	Protein Coding	1
42	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	1
43	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	1
44	ABCC4	ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)	Protein Coding	1
45	SLC47A2	Solute Carrier Family 47 Member 2	Protein Coding	1
46	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	1
47	ATP6V1F	ATPase H+ Transporting V1 Subunit F	Protein Coding	1
48	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	1
49	SLC16A10	Solute Carrier Family 16 Member 10	Protein Coding	1
50	SLC22A7	Solute Carrier Family 22 Member 7	Protein Coding	1
51	SLC12A4	Solute Carrier Family 12 Member 4	Protein Coding	1
52	SLC13A3	Solute Carrier Family 13 Member 3	Protein Coding	1
53	SLC22A11	Solute Carrier Family 22 Member 11	Protein Coding	1
54	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	1
55	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	1
56	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	1
57	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	1

Disorders associated with Proximal tubule transport SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Amino acid metabolic disorder	Direct
2	Schizophrenia	Direct
3	Iminoglycinuria	Enrichment	SLC36A2, SLC6A18, SLC6A19, SLC6A20	9.49
4	Hyperglycinuria	Enrichment	SLC36A2, SLC6A19	6.41
5	Hartnup disorder	Enrichment	CLTRN, SLC6A19	6.41
6	Renal tubular acidosis, distal, 1	Enrichment	ATP6V0A4, ATP6V1B1, SLC4A2	5.86
7	Distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1, SLC4A2	5.86
8	Cystinuria	Enrichment	SLC3A1, SLC7A9	5.63
9	Nephrocalcinosis	Enrichment	ATP6V1B1, SLC34A1, SLC3A1	5.08
10	Nephrolithiasis	Enrichment	ATP6V1B1, SLC34A1, SLC3A1	5.08
11	Hypophosphatemic rickets with hypercalciuria, hereditary	Enrichment	SLC34A1, SLC34A3	4.76
12	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	Enrichment	SLC34A1, SLC34A3	4.76
13	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	Enrichment	ATP6V0A4, ATP6V1B1	4.28
14	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V1A, ATP6V1E1	4.28
15	Renal glucosuria	Enrichment	SLC5A1, SLC5A2	3.98
16	Autosomal recessive distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1	3.59
17	Dicarboxylic aminoaciduria	Enrichment	SLC1A1	3.18
18	Schizophrenia 18	Enrichment	SLC1A1	3.18
19	Hot water epilepsy	Enrichment	SLC1A1	3.18
20	Myasthenic syndrome, congenital, 22	Enrichment	SLC3A1	2.88
21	Lysinuric protein intolerance	Enrichment	SLC7A7	2.70
22	Hypotonia-cystinuria syndrome	Enrichment	SLC3A1	2.70
23	Atypical hypotonia-cystinuria syndrome	Enrichment	SLC3A1	2.70
24	2p21 microdeletion syndrome	Enrichment	SLC3A1	2.58
25	Thyroid dyshormonogenesis 1	Enrichment	SLC5A5	2.38
26	Retinitis pigmentosa 17	Enrichment	CA4	2.38
27	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	2.38
28	Colchicine resistance	Enrichment	ABCB1	2.38
29	Blood group, colton system	Enrichment	AQP1	2.38
30	Uric acid concentration, serum, quantitative trait locus 1	Enrichment	ABCG2	2.38
31	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	2.38
32	Fanconi renotubular syndrome 2	Enrichment	SLC34A1	2.38
33	Encephalopathy, acute transient	Enrichment	ABCB1	2.38
34	Osteopetrosis, autosomal recessive 9	Enrichment	SLC4A2	2.38
35	Glucose/galactose malabsorption	Enrichment	SLC5A1	2.38
36	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	Enrichment	SLC13A3	2.38
37	Hypercalcemia, infantile, 2	Enrichment	SLC34A1	2.38
38	Inflammatory bowel disease 13	Enrichment	ABCB1	2.38
39	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	2.38
40	Blood group, junior system	Enrichment	ABCG2	2.38
41	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	2.38
42	Autosomal recessive hypophosphatemic bone disease	Enrichment	SLC34A3	2.38
43	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	2.38
44	Epilepsy with myoclonic absences	Enrichment	SLC2A1	2.38
45	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	2.38
46	Hypomagnesemia 2, renal	Enrichment	FXYD2	2.08
47	Fish-eye disease	Enrichment	SLC12A4	2.08
48	Fanconi-bickel syndrome	Enrichment	SLC2A2	2.08
49	Lecithin:cholesterol acyltransferase deficiency	Enrichment	SLC12A4	2.08
50	Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Enrichment	ATP6V1B1	2.08
51	Dystonia 9	Enrichment	SLC2A1	2.08
52	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	2.08
53	Proximal renal tubular acidosis-ocular anomaly syndrome	Enrichment	SLC4A4	2.08
54	Factor xii deficiency	Enrichment	SLC34A1	2.08
55	Diarrhea 8, secretory sodium, congenital	Enrichment	SLC9A3	2.08
56	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A	2.08
57	Charcot-marie-tooth disease, axonal, type 2dd	Enrichment	ATP1A1	2.08
58	Osteopetrosis, autosomal recessive 3	Enrichment	CA2	2.08
59	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	2.08
60	Renal tubular acidosis	Enrichment	ATP6V1B1	2.08
61	Hypomagnesemia, seizures, and impaired intellectual development 2	Enrichment	ATP1A1	2.08
62	Autosomal recessive infantile hypercalcemia	Enrichment	SLC34A1	2.08
63	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	2.08
64	Autosomal recessive proximal renal tubular acidosis	Enrichment	SLC4A4	2.08
65	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	Enrichment	SLC34A1	2.08
66	Dubin-johnson syndrome	Enrichment	ABCC2	1.90
67	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	SLC9A3	1.90
68	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	1.90
69	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1C1	1.90
70	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	1.90
71	Familial renal glucosuria	Enrichment	SLC5A2	1.90
72	Autoinflammatory disease	Enrichment	SLC7A7	1.80
73	Basal ganglia calcification	Enrichment	SLC20A2	1.78
74	Primary fanconi renotubular syndrome	Enrichment	SLC34A1	1.78
75	Osteopetrosis	Enrichment	CA2	1.68
76	Pseudoxanthoma elasticum	Enrichment	ABCC2	1.60
77	Familial thyroid dyshormonogenesis	Enrichment	SLC5A5	1.60
78	Paroxysmal dystonia	Enrichment	SLC2A1	1.54
79	Basal ganglia calcification, idiopathic, 1	Enrichment	SLC20A2	1.48
80	Alternating hemiplegia of childhood	Enrichment	SLC2A1	1.48
81	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	1.43
82	Epilepsy, idiopathic generalized	Enrichment	ABCB1	1.34
83	Congenital hypothyroidism	Enrichment	SLC5A5	1.31
84	Cutis laxa	Enrichment	ATP6V1E1	1.31
85	Congenital long qt syndrome	Enrichment	SLC2A2	1.31
86	Cataract	Enrichment	SLC7A8	1.24
87	Polydactyly, postaxial, type a1	Enrichment	ATP6V1B1	1.21
88	Osteogenesis imperfecta, type iii	Enrichment	SLC34A1	1.21
89	Hypertension, essential	Enrichment	ATP1B1	1.16
90	Autism spectrum disorder	Enrichment	SLC3A1	1.15
91	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1	1.00
92	Rasopathy	Enrichment	ATP6V1E1	0.98
93	Strabismus	Enrichment	SLC2A1	0.97
94	Long qt syndrome 1	Enrichment	SLC2A2	0.93
95	Cystic fibrosis	Enrichment	SLC9A3	0.90
96	Epilepsy	Enrichment	SLC2A1	0.81
97	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	0.80
98	Type 2 diabetes mellitus	Enrichment	SLC2A2	0.79
99	Centralopathic epilepsy	Enrichment	SLC2A1	0.78
100	West syndrome	Enrichment	SLC2A1	0.77
101	Sensorineural hearing loss	Enrichment	ATP6V0A4	0.74
102	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP6V1A	0.68
103	Rare genetic deafness	Enrichment	ATP6V1B1	0.55
104	Microcephaly	Enrichment	SLC2A1	0.39
105	Retinitis pigmentosa	Enrichment	CA4	0.23
106	Hereditary retinal dystrophy	Enrichment	CA4	0.15
107	Fundus dystrophy	Enrichment	CA4	0.15

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

Proximal tubule transport

Pathway Network for Proximal tubule transport

Pathway network for the Proximal tubule transport SuperPath

Member Pathways for Proximal tubule transport

Pathways in the Proximal tubule transport SuperPath

Gene overlap in member pathways for Proximal tubule transport SuperPath

Associated Genes for Proximal tubule transport

Associated Disorders for Proximal tubule transport

Disorders associated with Proximal tubule transport SuperPath

STRING Interaction Network for Proximal tubule transport

Sources for Proximal tubule transport