Gene table of NALCN : sodium leak channel, non-selective

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NALCN	OMIM link	Number of associated genes	genes
616266	CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NALCN
PS615419	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	UNC80, TBCK, NALCN

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Transmembrane transport of small molecules	R-HSA-382551	3.79
Stimuli-sensing channels	R-HSA-2672351	6.28

Associated GO terms for Molecular function

GO term	GO ID	GO IC
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
cation channel activity	GO:0005261	4.04
sodium ion transmembrane transporter activity	GO:0015081	4.83
substrate-specific channel activity	GO:0022838	3.67
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
cation transmembrane transporter activity	GO:0008324	3.32
transmembrane transporter activity	GO:0022857	2.82
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
channel activity	GO:0015267	3.6
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
passive transmembrane transporter activity	GO:0022803	3.6
sodium channel activity	GO:0005272	6.13
metal ion transmembrane transporter activity	GO:0046873	3.71
voltage-gated ion channel activity	GO:0005244	4.49
gated channel activity	GO:0022836	3.96