Gene Gene information from NCBI Gene database.
Entrez ID 811
Gene name Calreticulin
Gene symbol CALR
Synonyms (NCBI Gene)
CALR1CRTHEL-S-99nROSSAcC1qR
Chromosome 19
Chromosome location 19p13.13
Summary 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 cal
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1555760738 CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
700
miRTarBase ID miRNA Experiments Reference
MIRT022337 hsa-miR-124-3p Microarray 18668037
MIRT023227 hsa-miR-122-5p Proteomics 21750653
MIRT023576 hsa-miR-1-3p Microarray 18668037
MIRT031457 hsa-miR-16-5p Proteomics 18668040
MIRT045548 hsa-miR-149-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
138
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8107809
GO:0001669 Component Acrosomal vesicle IEA
GO:0001849 Function Complement component C1q complex binding IPI 9922153
GO:0001849 Function Complement component C1q complex binding TAS 15474971
GO:0002502 Process Peptide antigen assembly with MHC class I protein complex IDA 36104323
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
109091 1455 ENSG00000179218
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P27797
Protein name Calreticulin (CRP55) (Calregulin) (Endoplasmic reticulum resident protein 60) (ERp60) (HACBP) (grp60)
Protein function 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 glycoprotei
PDB 2CLR , 3DOW , 3POS , 3POW , 5LK5 , 5V90 , 6ENY , 7QPD , 8TZO , 8TZR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00262 Calreticulin 23 259 Calreticulin family Family
PF00262 Calreticulin 257 332 Calreticulin family Family
Sequence
MLLSVPLLLGLLGLAVAEPAVYFKEQFLDGDGWTSRWIESKHKSDFGKFVLSSGKFYGDE
EKDKGLQTSQDARFYALSASFEPFSNKGQTLVVQFTVKHEQNIDCGGGYVKLFPNSLDQT
DMHGDSEYNIMFGPDICGPGTKKVHVIFNYKGKNVLINKDIRCKDDEFTHLYTLIVRPDN
TYEVKIDNSQVESGSLEDDWDFLPPKKIKDPDASKPEDWDERAKIDDPTDSKPEDWDKPE
HIPDPDAKKPEDWDEE
MDGEWEPPVIQNPEYKGEWKPRQIDNPDYKGTWIHPEIDNPEYS
PDPSIYAYDNFGVLGLDLWQVKSGTIFDNFLI
TNDEAYAEEFGNETWGVTKAAEKQMKDK
QDEEQRLKEEEEDKKRKEEEEAEDKEDDEDKDEDEEDEEDKEEDEEEDVPGQAKDEL
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Phagosome
Efferocytosis
Antigen processing and presentation
Chagas disease
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
  ER-Phagosome pathway
Assembly of Viral Components at the Budding Site
Scavenging by Class A Receptors
Scavenging by Class F Receptors
ATF6 (ATF6-alpha) activates chaperone genes
Calnexin/calreticulin cycle
Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic; Pathogenic rs1555760738 RCV003883130
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential thrombocythemia Likely pathogenic; Pathogenic rs1555760738 RCV003883131
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary myelofibrosis Pathogenic; Likely pathogenic rs765476509, rs1555760738 RCV004796606
RCV000083256
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocythemia 1 Pathogenic; Likely pathogenic rs765476509, rs1555760738 RCV001329863
RCV000083257
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BUDD-CHIARI SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALR-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly BEFREE 29853879, 31055976
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 31741139
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 31837008
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15855281, 22915645, 27802968, 31340059
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15289361, 27429017
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17390051
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 26221725, 31171903
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26452990
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 27465041
★☆☆☆☆
Found in Text Mining only