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Gene information for ATP2C1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID27032
Official gene symbolATP2C1
Full nameATPase, Ca++ transporting, type 2C, member 1
Aliases,ATP2C1A,BCPM,HHD,KIAA1347,PMR1,SPCA1,hSPCA1,
Gene summaryThe protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]
LocationChromosome: 3   Locus: 3q22.1
Gene position130613434 - 130735556  Map Viewer
Gene orientationplus
Gene size122123 bp
Gene sequence
OMIM ID604384