Gene table of ANO5 : anoctamin 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ANO5	OMIM link	Number of associated genes	genes
PS254130	MIYOSHI MUSCULAR DYSTROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ANO5, DYSF
166260	GNATHODIAPHYSEAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ANO5
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC

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
intracellular calcium activated chloride channel activity	GO:0005229	6.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
inorganic anion transmembrane transporter activity	GO:0015103	4.87
substrate-specific channel activity	GO:0022838	3.67
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
chloride transmembrane transporter activity	GO:0015108	5.24
ion transmembrane transporter activity	GO:0015075	3.04
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
passive transmembrane transporter activity	GO:0022803	3.6
protein dimerization activity	GO:0046983	2.72
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
ion gated channel activity	GO:0022839	5.98
anion transmembrane transporter activity	GO:0008509	4.43
binding	GO:0005488	0.18