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Gene : ATP2C1 Homo sapiens

Name  ? ATPase secretory pathway Ca2+ transporting 1 Cytological Location  3q22.1
Brief Description  ATPase secretory pathway Ca2 transporting 1
Description  The 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 calcium ions. 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, Aug 2011]
  • synonyms:
  • AF181120,
  • uc003ens.4,
  • BCPM,
  • HHD,
  • NM_001001486,
  • PMR1,
  • calcium-transporting ATPase type 2C member 1,
  • secretory pathway Ca2+/Mn2+ ATPase 1,
  • PMR1,
  • hSPCA1,
  • ATP2C1,
  • HGNC:13211,
  • BCPM,
  • ATP2C1A,
  • ATP2C1A,
  • benign chronic pemphigus (Hailey-Hailey disease),
  • SPCA1,
  • SPCA1,
  • OTTHUMG00000136802,
  • ATPase, Ca++ transporting, type 2C, member 1,
  • KIAA1347
  • identifiers:
  • 27032,
  • ENSG00000017260,
  • ATP2C1

Genome feature

Region: gene ? Length: 166213  
Location: 3:130850500-131016712 Cyto location: 3q22.1

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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873 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results