Sarcoplasmic/endoplasmic reticulum calcium ATPase 2

Mean log₂FC across detected fractions: +0.0567 (2 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

• Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.

  Dujardin Simon et al.Nature medicine2020PMID 32572268

• Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.

  Bai Bing et al.Neuron2020PMID 31926610

• A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.

  Seyfried Nicholas T et al.Cell systems2017PMID 27989508

• Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.

  Johnson Erik C B et al.Nature neuroscience2022PMID 35115731

• Organization and regulation of gene transcription.

  Cramer PatrickNature2019PMID 31462772

Function

Disease associations

• Acrokeratosis verruciformisAKV

  A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease.

• Darier diseaseDD

  A skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp and forehead), palmoplantar pits and distinctive nail abnormalities. It is due to loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Patients with mild disease may have no more than a few scattered keratotic papules or subtle nail changes, whereas those with severe disease are handicapped by widespread malodorous keratotic plaques. Some patients present with hemorrhage into acantholytic vesicles on the palms and dorsal aspects of the fingers which gives rise to black macules. In a few families affected by Darier disease, neuropsychiatric abnormalities such as mild intellectual disability, schizophrenia, bipolar disorder and epilepsy have been reported. Stress, UV exposure, heat, sweat, friction and oral contraception exacerbate disease symptoms. Clinical variants of Darier disease include hypertrophic, vesicobullous, hypopigmented, cornifying, zosteriform or linear, acute and comedonal subtypes. Comedonal Darier disease is characterized by the coexistence of acne-like comedonal lesions with typical Darier hyperkeratotic papules on light-exposed areas. At histopathologic level, comedonal Darier disease differs from classic Darier disease in the prominent follicular involvement and the presence of greatly elongated dermal villi.

• Rhabdomyolysis 2RHABDO2

  An autosomal dominant disorder characterized by recurrent rhabdomyolysis, triggered predominantly by fever or infection. Rhabdomyolysis is the rapid breakdown of damaged or injured skeletal myofibres and may require intensive care management. Muscle breakdown results in release of myofibrillar content into the extracellular space and circulation, resulting in hyperCKemia (hyperCK) and myoglobinuria.

Sources

• uniprot: P16615

Last updated 5/8/2026, 6:27:57 AM