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GenoLensGenoLens

CALR

Chr 19p13.13

calreticulin

Aliases:
RO, SSA, cC1qR, CRT, FLJ26680
MANE:
ENST00000316448.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Thrombocythaemia

    Other
  • Cytopenias and congenital anaemias

    Unknown

Disease associations (Open Targets)

  • neoplasm

    0.58
  • myeloproliferative disorder

    0.58
  • thrombocythemia 1

    0.57
  • primary myelofibrosis

    0.56
  • hemorrhagic disease

    0.54
  • neurodegenerative disease

    0.52
  • essential thrombocythemia

    0.45
  • Alzheimer disease

    0.43
  • Parkinson disease

    0.43
  • multiple sclerosis

    0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calreticulin

Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER (PubMed:7876246). Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export (PubMed:11149926). Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity). Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and might participate in the block to polyspermy (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.