RGD Reference Report - Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. - Rat Genome Database

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Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

Authors: Sakuntabhai, A  Ruiz-Perez, V  Carter, S  Jacobsen, N  Burge, S  Monk, S  Smith, M  Munro, CS  O'Donovan, M  Craddock, N  Kucherlapati, R  Rees, JL  Owen, M  Lathrop, GM  Monaco, AP  Strachan, T  Hovnanian, A 
Citation: Sakuntabhai A, etal., Nat Genet 1999 Mar;21(3):271-7.
RGD ID: 734619
Pubmed: PMID:10080178   (View Abstract at PubMed)
DOI: DOI:10.1038/6784   (Journal Full-text)

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
keratosis follicularis  IAGP 734619 RGD 
keratosis follicularis  ISOATP2A2 (Homo sapiens)734619; 734619 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Atp2a2  (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)

Genes (Mus musculus)
Atp2a2  (ATPase, Ca++ transporting, cardiac muscle, slow twitch 2)

Genes (Homo sapiens)
ATP2A2  (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)


Additional Information