Gene table of CLCN7 : chloride voltage-gated channel 7

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CLCN7	OMIM link	Number of associated genes	genes
PS259700	OSTEOPETROSIS, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	TNFRSF11A, TNFSF11, SNX10, PLEKHM1, CA2, CLCN7, OSTM1, TCIRG1
PS607634	OSTEOPETROSIS, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	LRP5, CLCN7

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Annotation of the gene CLCN7

Associated genes in ENSEMBL

ENSG00000103249

Associated proteins - SwissProt Accession ID

P51798

Associated PDB IDs

Cytogenetic Band

16p13.3

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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
ATP binding	GO:0005524	2.43
substrate-specific channel activity	GO:0022838	3.67
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
anion transmembrane transporter activity	GO:0008509	4.43
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
inorganic anion transmembrane transporter activity	GO:0015103	4.87
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
chloride transmembrane transporter activity	GO:0015108	5.24
active transmembrane transporter activity	GO:0022804	3.85
antiporter activity	GO:0015297	5.33
secondary active transmembrane transporter activity	GO:0015291	4.29
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
small molecule binding	GO:0036094	1.89
purine ribonucleotide binding	GO:0032555	2.2
passive transmembrane transporter activity	GO:0022803	3.6
voltage-gated anion channel activity	GO:0008308	6.91
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
adenyl ribonucleotide binding	GO:0032559	2.41
gated channel activity	GO:0022836	3.96
voltage-gated chloride channel activity	GO:0005247	7.25
voltage-gated ion channel activity	GO:0005244	4.49
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19