Gene table of FXYD2 : FXYD domain containing ion transport regulator 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with FXYD2	OMIM link	Number of associated genes	genes
PS602014	HYPOMAGNESEMIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	CLDN19, CLDN16, TRPM6, EGF, CNNM2, FXYD2

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Annotation of the gene FXYD2

Associated genes in ENSEMBL

ENSG00000137731

Associated proteins - SwissProt Accession ID

P54710

Associated PDB IDs

2mkv

Cytogenetic Band

11q23.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Salivary secretion	hsa04970	6.23
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12
Aldosterone-regulated sodium reabsorption	hsa04960	7.41
Protein digestion and absorption	hsa04974	6.2
Bile secretion	hsa04976	6.56
Carbohydrate digestion and absorption	hsa04973	7.28
cGMP-PKG signaling pathway	hsa04022	5.32
Proximal tubule bicarbonate reclamation	hsa04964	8.24
Pancreatic secretion	hsa04972	6.07
cAMP signaling pathway	hsa04024	5.05
Mineral absorption	hsa04978	7.09
Insulin secretion	hsa04911	6.18
Thyroid hormone synthesis	hsa04918	6.56
Thyroid hormone signaling pathway	hsa04919	5.82
Cardiac muscle contraction	hsa04260	6.34
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Ion transport by P-type ATPases	R-HSA-936837	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ATPase activity	GO:0016887	3.65
molecular function regulator	GO:0098772	2.51
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
sodium ion transmembrane transporter activity	GO:0015081	4.83
ATPase activity, coupled	GO:0042623	3.97
sodium channel regulator activity	GO:0017080	6.3
sodium:potassium-exchanging ATPase activity	GO:0005391	7.44
primary active transmembrane transporter activity	GO:0015399	4.98
channel regulator activity	GO:0016247	4.88
passive transmembrane transporter activity	GO:0022803	3.6
metal ion transmembrane transporter activity	GO:0046873	3.71
active transmembrane transporter activity	GO:0022804	3.85
hydrolase activity	GO:0016787	1.9
transmembrane transporter activity	GO:0022857	2.82
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
catalytic activity	GO:0003824	1.05
potassium-transporting ATPase activity	GO:0008556	7.34
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
substrate-specific transporter activity	GO:0022892	2.72
ATPase activity, coupled to movement of substances	GO:0043492	4.93
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
cation-transporting ATPase activity	GO:0019829	5.64
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
active ion transmembrane transporter activity	GO:0022853	5.06
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	GO:0015662	6.24
substrate-specific channel activity	GO:0022838	3.67
potassium ion transmembrane transporter activity	GO:0015079	4.77
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98