Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
811
Gene name Gene Name - the full gene name approved by the HGNC.
Calreticulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALR
Synonyms (NCBI Gene) Gene synonyms aliases
CALR1, CRT, HEL-S-99n, RO, SSA, cC1qR
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1555760738 CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
109091 1455 ENSG00000179218
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
acute myeloid leukemia Acute myeloid leukemia rs1555760738 N/A
Myelofibrosis primary myelofibrosis rs1555760738 N/A
Thrombocythemia thrombocythemia 1 rs1555760738 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 36385130
Adenocarcinoma of Lung Stimulate 35264066
Adrenocortical Carcinoma Stimulate 23587357
Alagille Syndrome Associate 22487239
Anemia Inhibit 24986690
Anemia Associate 31107982, 36183610
Anodontia Stimulate 32323496
Arthritis Rheumatoid Associate 24988887, 35027076
Autoimmune Diseases Associate 20834237, 21209908
Azoospermia Associate 39237030