Details for Gene MYO7A

GENE NAME MYO7A
CHROMOSOME 11
ENSEMBL ID None
ENTREZ ID ENSG00000137474
UNIPROT ACCESSION NUMBER Q13402
GO MOLECULAR FUNCTION ['calmodulin binding', 'spectrin binding', 'protein binding', 'protein domain specific binding', 'microfilament motor activity', 'actin filament binding', 'ATP binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-162582; R-HSA-2187338; R-HSA-2453902; R-HSA-372790; R-HSA-388396; R-HSA-418594; R-HSA-162582; R-HSA-2187338; R-HSA-2453902; R-HSA-372790; R-HSA-388396; R-HSA-418594
24 combinations linked to MYO7A OLI106; OLI1032; OLI352; OLI261; OLI103; OLI262; OLI102; OLI1749; OLI345; OLI101; OLI1746; OLI100; OLI1033; OLI1035; OLI350; OLI259; OLI105; OLI604; OLI1036; OLI1037; OLI1038; OLI343; OLI1034; OLI348
28 variants linked to MYO7A MYO7A:None, p.Lys542GlnfsTer5; MYO7A:c.3904delT, p.Tyr1302fsTer97; MYO7A:p.Gly519Asp; MYO7A:c.2283-1G>T, ; MYO7A:p.Leu2186Pro; MYO7A:p.Pro1220Leu; MYO7A:p.Lys268Arg; MYO7A:p.Ala771Ser; MYO7A:p.Val692Met; MYO7A:c.3504-39T>C, ; MYO7A:c.1554+22C>T, ; MYO7A:c.3124T>G, p.Trp1042Gly; MYO7A:c.6051+9C>T, ; MYO7A:c.1133G>A, p.Arg378His; MYO7A:c.4152+15A>G, ; MYO7A:c.324C>T, p.Tyr108=; MYO7A:c.1798-7_1798-6delCCinsAT, ; MYO7A:c.1798-4_1801delCCAGGGCGinsGGCTGCT, ; MYO7A:c.6070C>T, p.Arg2024Ter; MYO7A:c.3G>A, p.Met1; MYO7A:c.1007G>A, p.Arg336His; MYO7A:c.2507G>A, p.Arg836His; MYO7A:c.2617C>T, p.Arg873Trp; MYO7A:c.4635G>A, p.Trp1545Ter; MYO7A:c.6247G>A, p.Ala2083Thr; MYO7A:c.6626G>A, p.Arg2209Gln; MYO7A:c.2882G>A, p.Gly961Asp; MYO7A:c.4259G>A, p.Arg1420His
6 diseases linked to MYO7A Usher syndrome type 1; 46,XY disorder of sex development; Usher syndrome type 2; Meniere Disease; Disorder of sex development; Atypical hemolytic uremic syndrome
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