Gene table of BSND : barttin CLCNK type accessory beta subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BSND	OMIM link	Number of associated genes	genes
PS601678	BARTTER SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	BSND, CLCNKA, KCNJ1, SLC12A1, CLCNKB

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
molecular function regulator	GO:0098772	2.51
anion transmembrane transporter activity	GO:0008509	4.43
channel activity	GO:0015267	3.6
inorganic anion transmembrane transporter activity	GO:0015103	4.87
channel regulator activity	GO:0016247	4.88
passive transmembrane transporter activity	GO:0022803	3.6
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
chloride transmembrane transporter activity	GO:0015108	5.24
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
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
voltage-gated ion channel activity	GO:0005244	4.49
ion transmembrane transporter activity	GO:0015075	3.04
voltage-gated channel activity	GO:0022832	4.49
transmembrane transporter activity	GO:0022857	2.82
chloride channel regulator activity	GO:0017081	7.03
gated channel activity	GO:0022836	3.96
voltage-gated chloride channel activity	GO:0005247	7.25
substrate-specific channel activity	GO:0022838	3.67