Disease table of ALTERNATING HEMIPLEGIA OF CHILDHOOD OMIM ID: PS104290

Gene-disease associations table

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Gene	Associated with ALTERNATING HEMIPLEGIA OF CHILDHOOD in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ATP1A2	ClinVar, OMIM, HUMSAVAR	HGNC link	1q23.2	2	602481, PS104290
ATP1A3	ClinVar, OMIM, HUMSAVAR	HGNC link	19q13.2	3	601338, PS104290, PS128100

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ATP1A3	ATP1A2	No	8	VDAC2, CCT7, ATP6V1A, RAB1A, CLTC, ATP6V0D1, VDAC1, LGR4

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
ATP1A2	ATP1A3	yes, indirect	ATPase is composed of three subunits: alpha (catalytic), beta and gamma. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Proximal tubule bicarbonate reclamation	hsa04964	8.24	2	ATP1A3, ATP1A2
Aldosterone-regulated sodium reabsorption	hsa04960	7.41	2	ATP1A3, ATP1A2
Carbohydrate digestion and absorption	hsa04973	7.28	2	ATP1A3, ATP1A2
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12	2	ATP1A3, ATP1A2
Mineral absorption	hsa04978	7.09	2	ATP1A3, ATP1A2
Bile secretion	hsa04976	6.56	2	ATP1A3, ATP1A2
Thyroid hormone synthesis	hsa04918	6.56	2	ATP1A3, ATP1A2
Gastric acid secretion	hsa04971	6.48	2	ATP1A3, ATP1A2
Cardiac muscle contraction	hsa04260	6.34	2	ATP1A3, ATP1A2
Salivary secretion	hsa04970	6.23	2	ATP1A3, ATP1A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Proximal tubule bicarbonate reclamation (hsa04964)	-	8.24	0.0	ATP1A3, ATP1A2
Aldosterone-regulated sodium reabsorption (hsa04960)	-	7.41	0.001	ATP1A3, ATP1A2
Carbohydrate digestion and absorption (hsa04973)	-	7.28	0.001	ATP1A3, ATP1A2
Endocrine and other factor-regulated calcium reabsorption (hsa04961)	-	7.12	0.001	ATP1A3, ATP1A2
Mineral absorption (hsa04978)	-	7.09	0.004	ATP1A3, ATP1A2
Bile secretion (hsa04976)	-	6.56	0.003	ATP1A3, ATP1A2
Thyroid hormone synthesis (hsa04918)	-	6.56	0.01	ATP1A3, ATP1A2
Gastric acid secretion (hsa04971)	-	6.48	0.003	ATP1A3, ATP1A2
Cardiac muscle contraction (hsa04260)	-	6.34	0.004	ATP1A3, ATP1A2
Salivary secretion (hsa04970)	-	6.23	0.004	ATP1A3, ATP1A2

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Ion transport by P-type ATPases	R-HSA-936837	7.46	2	ATP1A3, ATP1A2
Ion channel transport	R-HSA-983712	5.34	2	ATP1A3, ATP1A2
Transmembrane transport of small molecules	R-HSA-382551	3.79	2	ATP1A3, ATP1A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Basigin interactions (R-HSA-210991)	NEW	8.34	0.001	ATP1A3, ATP1A2
Ion transport by P-type ATPases (R-HSA-936837)	-	7.46	0.0	ATP1A3, ATP1A2
Cell surface interactions at the vascular wall (R-HSA-202733)	NEW	6.32	0.032	ATP1A3, ATP1A2
Ion channel transport (R-HSA-983712)	-	5.34	0.002	ATP1A3, ATP1A2
Transmembrane transport of small molecules (R-HSA-382551)	-	3.79	0.021	ATP1A3, ATP1A2

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
steroid hormone binding (GO:1990239)	7.95	2	ATP1A3, ATP1A2
sodium:potassium-exchanging ATPase activity (GO:0005391)	7.44	2	ATP1A3, ATP1A2
potassium-transporting ATPase activity (GO:0008556)	7.34	2	ATP1A3, ATP1A2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism (GO:0015662)	6.24	2	ATP1A3, ATP1A2
cation-transporting ATPase activity (GO:0019829)	5.64	2	ATP1A3, ATP1A2
hormone binding (GO:0042562)	5.53	2	ATP1A3, ATP1A2
ATPase coupled ion transmembrane transporter activity (GO:0042625)	5.46	2	ATP1A3, ATP1A2
chaperone binding (GO:0051087)	5.34	2	ATP1A3, ATP1A2
steroid binding (GO:0005496)	5.24	2	ATP1A3, ATP1A2
ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	5.06	2	ATP1A3, ATP1A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
sodium (GO:0005391)	-	7.44	0.0	ATP1A3, ATP1A2
potassium-transporting ATPase activity (GO:0008556)	-	7.34	0.0	ATP1A3, ATP1A2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism (GO:0015662)	-	6.24	0.0	ATP1A3, ATP1A2
cation-transporting ATPase activity (GO:0019829)	-	5.64	0.001	ATP1A3, ATP1A2
ATPase activity, coupled to transmembrane movement of ions (GO:0042625)	-	5.46	0.001	ATP1A3, ATP1A2
chaperone binding (GO:0051087)	-	5.34	0.003	ATP1A3, ATP1A2
ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	-	5.06	0.002	ATP1A3, ATP1A2
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	-	5.03	0.005	ATP1A3, ATP1A2
primary active transmembrane transporter activity (GO:0015399)	-	4.98	0.006	ATP1A3, ATP1A2
P-P-bond-hydrolysis-driven transmembrane transporter activity (GO:0015405)	-	4.98	0.006	ATP1A3, ATP1A2

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
response to glycoside (GO:1903416)	7.94	2	ATP1A3, ATP1A2
sodium ion export from cell (GO:0036376)	7.43	2	ATP1A3, ATP1A2
sodium ion export (GO:0071436)	7.24	2	ATP1A3, ATP1A2
cellular potassium ion homeostasis (GO:0030007)	7.24	2	ATP1A3, ATP1A2
establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)	7.16	2	ATP1A3, ATP1A2
cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	7.16	2	ATP1A3, ATP1A2
cell communication by electrical coupling (GO:0010644)	7.02	2	ATP1A3, ATP1A2
potassium ion homeostasis (GO:0055075)	6.84	2	ATP1A3, ATP1A2
cellular sodium ion homeostasis (GO:0006883)	6.84	2	ATP1A3, ATP1A2
cell communication involved in cardiac conduction (GO:0086065)	6.73	2	ATP1A3, ATP1A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
sodium ion export from cell (GO:0036376)	-	7.43	0.0	ATP1A3, ATP1A2
sodium ion export (GO:0071436)	-	7.24	0.0	ATP1A3, ATP1A2
cellular potassium ion homeostasis (GO:0030007)	-	7.24	0.0	ATP1A3, ATP1A2
cell communication by electrical coupling involved in cardiac conduction (GO:0086064)	-	7.16	0.0	ATP1A3, ATP1A2
cell communication by electrical coupling (GO:0010644)	-	7.02	0.0	ATP1A3, ATP1A2
potassium ion homeostasis (GO:0055075)	-	6.84	0.0	ATP1A3, ATP1A2
cellular sodium ion homeostasis (GO:0006883)	-	6.84	0.0	ATP1A3, ATP1A2
cell communication involved in cardiac conduction (GO:0086065)	-	6.73	0.0	ATP1A3, ATP1A2
potassium ion import (GO:0010107)	-	6.4	0.0	ATP1A3, ATP1A2
sodium ion homeostasis (GO:0055078)	-	6.36	0.002	ATP1A3, ATP1A2

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
sodium:potassium-exchanging ATPase complex (GO:0005890)	7.4	2	ATP1A3, ATP1A2
cation-transporting ATPase complex (GO:0090533)	7.03	2	ATP1A3, ATP1A2
ATPase dependent transmembrane transport complex (GO:0098533)	6.62	2	ATP1A3, ATP1A2
ATPase complex (GO:1904949)	6.62	2	ATP1A3, ATP1A2
sarcolemma (GO:0042383)	5.2	2	ATP1A3, ATP1A2
myelin sheath (GO:0043209)	4.76	2	ATP1A3, ATP1A2
transmembrane transporter complex (GO:1902495)	4.06	2	ATP1A3, ATP1A2
transporter complex (GO:1990351)	4.04	2	ATP1A3, ATP1A2
synapse (GO:0045202)	3.58	2	ATP1A3, ATP1A2
plasma membrane protein complex (GO:0098797)	3.55	2	ATP1A3, ATP1A2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
sodium (GO:0005890)	-	7.4	0.0	ATP1A3, ATP1A2
cation-transporting ATPase complex (GO:0090533)	-	7.03	0.0	ATP1A3, ATP1A2
ATPase dependent transmembrane transport complex (GO:0098533)	-	6.62	0.0	ATP1A3, ATP1A2
transmembrane transporter complex (GO:1902495)	-	4.06	0.01	ATP1A3, ATP1A2
transporter complex (GO:1990351)	-	4.04	0.01	ATP1A3, ATP1A2
synapse (GO:0045202)	-	3.58	0.006	ATP1A3, ATP1A2
neuron projection (GO:0043005)	-	3.12	0.038	ATP1A3, ATP1A2

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