RESEARCH
PUBLICATIONS
NEXTBIO COMMUNITY
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encodin...
Normal tissues
|
|
||
|---|---|---|---|
| Deltoid |
100
|
||
| Preoptic area |
90
|
||
| Jejunum |
86
|
||
| Tongue |
86
|
||
| Dorsal striatum |
86
|
||
| Superior surface of … |
84
|
Compounds
|
|
||
|---|---|---|---|
| Vecuronium Bromide |
100
|
||
| Pralidoxime Chloride |
99
|
||
| Alfacalcidol |
95
|
||
| Amoxicillin |
92
|
||
| Venlafaxine |
89
|
||
| Oxymetholone |
86
|
 Individual Studies |
|
|---|---|
|
|
Mus musculus
|
Mutations/Phenotypic
Homo sapiens
|
-
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
Authors: A Sakuntabhai, V Ruiz-Perez, S Carter, N Jacobsen, S Burge, S Monk, M Smith, C S Munro, M O'Donovan, N Craddock,…
Nature genetics 1999 Mar -
Haploinsufficiency of Atp2a2, encoding the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 Ca2+ pump, predisposes mice to squamous cell tumors via a novel mode of cancer susceptibility.
Authors: Vikram Prasad, Gregory P Boivin, Marian L Miller, Lynne H Liu, Christopher R Erwin, Brad W Warner, Gary E Shull
Cancer research 2005 Oct 1
Thought leaders and organizations working on research involving ATP2A2.
- Anhui Medical University
- University of Ljubljana
- University of Oxford
- Institut Pasteur de Tunis
- University of Wales College of Medicine
