Details for Gene ANO5

GENE NAME ANO5
CHROMOSOME 11
ENSEMBL ID ENSG00000171714
ENTREZ ID 203859
UNIPROT ACCESSION NUMBER Q75V66
GO MOLECULAR FUNCTION chloride channel activity; protein dimerization activity; intracellular calcium activated chloride channel activity
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-382551; R-HSA-983712; R-HSA-2672351
2 combinations linked to ANO5 OLI017; OLI016
3 variants linked to ANO5 ANO5:c.2141C>G, p.Thr714Ser; ANO5:c.191dup, p.Asn64LysfsTer15; ANO5:c.2272C>T, p.Arg758Cys
1 disease linked to ANO5 Limb-girdle muscular dystrophy

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