CALR Chromosome 19
Calreticulin
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What This Gene Does
Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000179218
Associated Conditions (4)
Thrombocythemia 1
Primary myelofibrosis
Essential thrombocythemia
Acute myeloid leukemia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765476509 | Health Risk | Pathogenic | Thrombocythemia 1, Primary myelofibrosis, Thrombocythemia 1 |
| RS1555760738 | Health Risk | Pathogenic/Likely pathogenic | Primary myelofibrosis, Thrombocythemia 1, Essential thrombocythemia |