Gene table of CLCN5 : chloride voltage-gated channel 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CLCN5	OMIM link	Number of associated genes	genes
310468	NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE	OMIM, HUMSAVAR	link to OMIM	1	CLCN5
PS193100	HYPOPHOSPHATEMIC RICKETS	OMIM, HUMSAVAR	link to OMIM	5	FGF23, DMP1, ENPP1, CLCN5, PHEX
308990	PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS	OMIM, HUMSAVAR	link to OMIM	1	CLCN5
PS300009	DENT DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	OCRL, CLCN5

Download the gene annotation in CSV format

Annotation of the gene CLCN5

Associated genes in ENSEMBL

ENSG00000171365

Associated proteins - SwissProt Accession ID

P51795

Associated PDB IDs

Cytogenetic Band

Xp11.23

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

TFAP4

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