Gene table of CLIC2 : chloride intracellular channel 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CLIC2	OMIM link	Number of associated genes	genes
PS309510	MENTAL RETARDATION, X-LINKED SYNDROMIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	27	AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6

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
binding	GO:0005488	0.18
substrate-specific channel activity	GO:0022838	3.67
oxidoreductase activity	GO:0016491	3.12
glutathione transferase activity	GO:0004364	6.18
anion transmembrane transporter activity	GO:0008509	4.43
transferase activity, transferring alkyl or aryl (other than methyl) groups	GO:0016765	5.58
transferase activity	GO:0016740	1.95
inorganic anion transmembrane transporter activity	GO:0015103	4.87
passive transmembrane transporter activity	GO:0022803	3.6
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
ion channel activity	GO:0005216	3.71
transporter activity	GO:0005215	2.57
antioxidant activity	GO:0016209	5.49
catalytic activity	GO:0003824	1.05
substrate-specific transporter activity	GO:0022892	2.72
substrate-specific transmembrane transporter activity	GO:0022891	2.9
oxidoreductase activity, acting on peroxide as acceptor	GO:0016684	6.0
chloride transmembrane transporter activity	GO:0015108	5.24
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
gated channel activity	GO:0022836	3.96
protein binding	GO:0005515	0.46
voltage-gated ion channel activity	GO:0005244	4.49
peroxidase activity	GO:0004601	6.05
glutathione peroxidase activity	GO:0004602	6.85