CALR
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Also known as ROSSAcC1qRCRTFLJ26680CALR1
Summary
CALR (calreticulin, HGNC:1455) is a protein-coding gene on chromosome 19p13.13, encoding Calreticulin (P27797). Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. In precision oncology, CALR EXON 9 FRAMESHIFT confers sensitivity to Peginterferon Alfa-2a in Essential Thrombocythemia (CIViC Level B).
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.
Source: NCBI Gene 811 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 96 total — 1 pathogenic
- Phenotypes (HPO): 84
- Druggable target: yes
- Precision-oncology evidence (CIViC): 1 curated variant–drug association
- MANE Select transcript:
NM_004343
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1455 |
| Approved symbol | CALR |
| Name | calreticulin |
| Location | 19p13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RO, SSA, cC1qR, CRT, FLJ26680, CALR1 |
| Ensembl gene | ENSG00000179218 |
| Ensembl biotype | protein_coding |
| OMIM | 109091 |
| Entrez | 811 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 12 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000316448, ENST00000586760, ENST00000586803, ENST00000586967, ENST00000587486, ENST00000588454, ENST00000590325, ENST00000680816, ENST00000861560, ENST00000929786, ENST00000929787, ENST00000929788, ENST00000929789, ENST00000929790, ENST00000929791, ENST00000929792, ENST00000957023
RefSeq mRNA: 1 — MANE Select: NM_004343
NM_004343
CCDS: CCDS12288
Canonical transcript exons
ENST00000316448 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001255537 | 12943537 | 12943629 |
| ENSE00001255547 | 12940744 | 12940887 |
| ENSE00001255558 | 12940541 | 12940654 |
| ENSE00001255567 | 12940243 | 12940452 |
| ENSE00001255601 | 12943713 | 12944489 |
| ENSE00001255609 | 12938609 | 12938770 |
| ENSE00003557148 | 12940053 | 12940147 |
| ENSE00003643363 | 12939428 | 12939631 |
| ENSE00003684797 | 12939134 | 12939235 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 99.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 1492.0951 / max 9312.6897, expressed in 1828 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174039 | 1484.3111 | 1828 |
| 174049 | 4.3498 | 1484 |
| 174042 | 3.0667 | 1492 |
| 174050 | 0.3675 | 135 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 99.80 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 99.64 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 99.62 | gold quality |
| thyroid gland | UBERON:0002046 | 99.56 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.52 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 99.44 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.42 | gold quality |
| colonic epithelium | UBERON:0000397 | 99.34 | gold quality |
| rectum | UBERON:0001052 | 99.33 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 99.29 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.25 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.24 | gold quality |
| granulocyte | CL:0000094 | 99.20 | gold quality |
| ascending aorta | UBERON:0001496 | 99.20 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.18 | gold quality |
| left uterine tube | UBERON:0001303 | 99.17 | gold quality |
| right ovary | UBERON:0002118 | 99.16 | gold quality |
| left ovary | UBERON:0002119 | 99.16 | gold quality |
| body of pancreas | UBERON:0001150 | 99.14 | gold quality |
| ventricular zone | UBERON:0003053 | 99.14 | gold quality |
| right coronary artery | UBERON:0001625 | 99.13 | gold quality |
| minor salivary gland | UBERON:0001830 | 99.13 | gold quality |
| adrenal tissue | UBERON:0018303 | 99.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.12 | gold quality |
| gall bladder | UBERON:0002110 | 99.11 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.10 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.10 | gold quality |
| endocervix | UBERON:0000458 | 99.08 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.08 | gold quality |
| body of uterus | UBERON:0009853 | 99.06 | gold quality |
Single-cell (SCXA)
Detected in 19 experiment(s), a significant marker in 13.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9154 | yes | 3160.57 |
| E-HCAD-24 | yes | 2575.79 |
| E-MTAB-10042 | yes | 1950.88 |
| E-MTAB-9067 | yes | 1928.56 |
| E-MTAB-9801 | yes | 1479.82 |
| E-HCAD-6 | yes | 1111.64 |
| E-MTAB-9467 | yes | 48.32 |
| E-CURD-112 | yes | 35.09 |
| E-CURD-46 | yes | 30.86 |
| E-CURD-122 | yes | 23.09 |
| E-HCAD-9 | yes | 20.07 |
| E-GEOD-135922 | yes | 10.29 |
| E-HCAD-13 | no | 2759.32 |
| E-GEOD-76312 | no | 1494.60 |
| E-CURD-7 | no | 1438.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, ATF6, E2F1, E2F4, ESR1, GATA3, GATA6, MECOM, MEF2C, NKX2-5, NR2F1, PPARA, PPARD, PPARG, TCF3, TFAP2A, TTF1, YY1
miRNA regulators (miRDB)
53 targeting CALR, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
Literature-anchored findings (GeneRIF, showing 40)
- location was observed on or near the cell surface suggesting it might participate in surface membrane transport of iron (PMID:11891802)
- Regulation of expression during induction of differentiation in human myeloid cells; evidence for remodeling of the endoplasmic reticulum (PMID:12065601)
- Anti-adhesive activity of thrombospondin is mediated by the N-terminal domain of the cell surface protein (PMID:12147682)
- role in class I loading process (PMID:12235131)
- Data show that CD1d associates in the ER with both calnexin and calreticulin and with the thiol oxidoreductase ERp57 in a manner dependent on glucose trimming of its N-linked glycans. (PMID:12239218)
- Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins. (PMID:12242300)
- role in calcium homeostasis and apoptosis (PMID:12324449)
- Physical and functional interaction between cell-surface calreticulin and the collagen receptors integrin alpha2beta1 and glycoprotein VI in human platelets (PMID:12362238)
- Maturation-dependent expression of this protein in monocyte-derived dendritic cells. (PMID:12538033)
- Dengue 4 virus minus strand 3’UTR RNA binds with calreticulin in human monocytes (PMID:12584332)
- CD59 is an adaptor for ecto-calreticulin in neutrophils (PMID:12646570)
- identification as a nuclear matrix protein associated with human colon cancer (PMID:12704787)
- disease specific antigenic epitopes on CRT molecule, predominantly recognised by IgA Ab of patients suffering from a particular disease (PMID:14624761)
- calreticulin is expressed in melanoma cells of primary as well as of metastatic lesions and may not have the same causative role as calnexin in melanoma metastasis (PMID:14732231)
- the contribution of both the b and b’ domains of ER-60 to the binding with calnexin and calreticulin was revealed (PMID:15236594)
- the lectin site of CRT is the main target for gentamicin binding (PMID:15351734)
- A polypeptide binding conformation of CALR is induced by deletion of the C-terminal acidic region. (PMID:15383281)
- conclude that calreticulin promotes the folding of human leukocyte antigen class I molecules to a state in which, at low temperature, they spontaneously acquire peptide binding capacity (PMID:15494401)
- Up-regulation of calreticulin is associated with bladder cancer (PMID:15596044)
- The thrombospondin-1 (TSP-1) binding site in calreticulin, spanning residues 19-36, augments the expression of TSP-1 and is a potent triggering factor for T cell migration. (PMID:15634883)
- modulation of CEBPA by calreticulin represents a novel mechanism involved in the differentiation block in CBFB-SMMHC AML. (PMID:15855281)
- Our study has identified, by immunoprecipitation and direct protein sequencing (LC/MS/MS), binding of CD69 to an N-terminal protein fragment of calreticulin expressed on the cell surface of human PBMCs. (PMID:15893733)
- C1q functions as a chemotactic factor for immature dendritic cells, and migration is mediated through ligation of both gC1qR and cC1qR/CR. (PMID:16140380)
- single C-terminal alpha-helix was of major importance to the conformational stability of calreticulin (PMID:16522185)
- CRT in the post-endoplasmic reticulum compartments may act as a negative regulator of the cell surface CFTR (PMID:16527813)
- These results indicate that the calcium- and zinc-responsive regions of calreticulin reside strictly in the N-/C-domain. (PMID:16542777)
- Novel mechanism by which calareticulin is involved in the regulation of radiosensitivity and radiation-induced apoptosis in malignant glioma cells. (PMID:16951181)
- Calreticulin/NY-ESO-1 interactions provide a direct link between NY-ESO-1, the innate immune system and, potentially, the adaptive immune response against NY-ESO-1. (PMID:16951317)
- CRT is located on the surface of metaphase chromosomes (PMID:16974078)
- Phospholamban in the human esophagus might be of less importance for regulation of SERCA than in heart. Lower expression of calsequestrin and calreticulin might contribute to increased lower esophageal sphincter pressure in achalasia. (PMID:17009399)
- These results show that Calreticulin is likely to play a pivotal role in the differentiation of human colonic adenocarcinomas. (PMID:17390051)
- calreticulin has a peptide-binding specificity for hydrophobic sequences (PMID:17499031)
- CALR and Hsp90 stabilize INSR. (PMID:17563366)
- Two novel mutations in the CALR gene were identified. (PMID:17655857)
- cell surface calreticulin, a known innate immunity receptor, which has been previously proposed as a culprit in autoimmunity, plays a critical role in shared epitope-triggered signal transduction. (PMID:17947714)
- Calreticulin stimulates the anti-oxidant pathway and contributes to short-term hypoxia-induced protection in A549 type II alveolar epithelial cells. (PMID:17959730)
- Calreticulin expression in the clonal plasma cells of patients with systemic light-chain (AL-) amyloidosis is associated with response to high-dose melphalan (PMID:17982021)
- These findings suggest that Ro52 plays a significant role in quality control of IgG1 through the endoplasmic reticulum associated degradation system. (PMID:18022694)
- Data show that the potential MBL co-receptor calreticulin binds to MBL at the MASP binding site and the interaction may involve a conformational change in MBL. (PMID:18177377)
- interaction of calreticulin with amyloid beta (Abeta) was investigated; calreticulin bound Abeta 1-42 in a time and concentration dependent fashion (PMID:18221019)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | calr | ENSDARG00000076290 |
| mus_musculus | Calr | ENSMUSG00000003814 |
| rattus_norvegicus | Calr | ENSRNOG00000003029 |
| caenorhabditis_elegans | WBGENE00000802 |
Paralogs (3): CANX (ENSG00000127022), CLGN (ENSG00000153132), CALR3 (ENSG00000269058)
Protein
Protein identifiers
Calreticulin — P27797 (reviewed: P27797)
Alternative names: CRP55, Calregulin, Endoplasmic reticulum resident protein 60, HACBP, grp60
All UniProt accessions (6): A0A7P0T861, K7EJB9, K7EL50, K7ELE2, P27797, V9HW88
UniProt curated annotations — full annotation on UniProt →
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 glycoproteins that are synthesized in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis. 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.
Subunit / interactions. Monomer. Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5. Interacts with PDIA3/ERp57 and SPACA9. Interacts with TRIM21. Interacts with NR3C1. Interacts with PPIB. Interacts (via P-domain) with PDIA5. Interacts with GABARAP. Interacts with HLA-E-B2M and HLA-G-B2M complexes. Interacts with HLA-F. Interacts with CLCC1.
Subcellular location. Endoplasmic reticulum lumen. Cytoplasm. Cytosol. Secreted. Extracellular space. Extracellular matrix. Cell surface. Sarcoplasmic reticulum lumen. Cytoplasmic vesicle. Secretory vesicle. Cortical granule. Cytolytic granule.
Disease relevance. CALR somatic mutations are frequently found in myeloproliferative neoplasms lacking JAK2 or MPL mutations. Myeloproliferative neoplasms are chronic myeloid cancers characterized by overproduction of mature blood cells, and may evolve into acute myeloid leukemia. In addition to chronic myeloid leukemia with the BCR-ABL fusion gene, the three most common myeloproliferative neoplasms are essential thrombocythemia, polycythemia vera, and myelofibrosis.
Domain organisation. Can be divided into a N-terminal globular domain, a proline-rich P-domain forming an elongated arm-like structure and a C-terminal acidic domain. The P-domain binds one molecule of calcium with high affinity, whereas the acidic C-domain binds multiple calcium ions with low affinity. The interaction with glycans occurs through a binding site in the globular lectin domain. The zinc binding sites are localized to the N-domain. Associates with PDIA3 through the tip of the extended arm formed by the P-domain.
Similarity. Belongs to the calreticulin family.
RefSeq proteins (1): NP_004334* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001580 | Calret/calnex | Family |
| IPR009033 | Calreticulin/calnexin_P_dom_sf | Homologous_superfamily |
| IPR009169 | Calreticulin | Family |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR018124 | Calret/calnex_CS | Conserved_site |
Pfam: PF00262
UniProt features (63 total): strand 18, binding site 9, region of interest 8, repeat 7, helix 5, compositionally biased region 4, modified residue 4, turn 3, signal peptide 1, chain 1, short sequence motif 1, glycosylation site 1, disulfide bond 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3POW | X-RAY DIFFRACTION | 1.55 |
| 3POS | X-RAY DIFFRACTION | 1.65 |
| 2CLR | X-RAY DIFFRACTION | 2 |
| 3DOW | X-RAY DIFFRACTION | 2.3 |
| 5LK5 | X-RAY DIFFRACTION | 2.3 |
| 8TZO | ELECTRON MICROSCOPY | 3.1 |
| 5V90 | X-RAY DIFFRACTION | 3.25 |
| 8TZR | ELECTRON MICROSCOPY | 3.5 |
| 7QPD | ELECTRON MICROSCOPY | 3.73 |
| 6ENY | ELECTRON MICROSCOPY | 5.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P27797-F1 | 89.31 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (9): 26; 62; 64; 109; 111; 128; 135; 317; 328
Post-translational modifications (4): 48, 64, 159, 209
Disulfide bonds (1): 105–137
Glycosylation sites (1): 344
Function
Pathways and Gene Ontology
Reactome pathways
27 pathways
| ID | Pathway |
|---|---|
| R-HSA-1236974 | ER-Phagosome pathway |
| R-HSA-168316 | Assembly of Viral Components at the Budding Site |
| R-HSA-3000480 | Scavenging by Class A Receptors |
| R-HSA-3000484 | Scavenging by Class F Receptors |
| R-HSA-381183 | ATF6 (ATF6-alpha) activates chaperone genes |
| R-HSA-901042 | Calnexin/calreticulin cycle |
| R-HSA-983170 | Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
| R-HSA-9918432 | Maturation of DENV proteins |
| R-HSA-1236975 | Antigen processing-Cross presentation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-1643685 | Disease |
| R-HSA-168255 | Influenza Infection |
| R-HSA-168256 | Immune System |
| R-HSA-168268 | Virus Assembly and Release |
| R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-381033 | ATF6 (ATF6-alpha) activates chaperones |
| R-HSA-381119 | Unfolded Protein Response (UPR) |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-446203 | Asparagine N-linked glycosylation |
| R-HSA-532668 | N-glycan trimming in the ER and Calnexin/Calreticulin cycle |
| R-HSA-5653656 | Vesicle-mediated transport |
| R-HSA-5663205 | Infectious disease |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9824446 | Viral Infection Pathways |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 659 (showing top):
GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, HONMA_DOCETAXEL_RESISTANCE, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, WANG_CLIM2_TARGETS_UP, GOBP_CELLULAR_RESPONSE_TO_VIRUS, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_DENDRITIC_CELL_MIGRATION, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CELL_CHEMOTAXIS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT
GO Biological Process (42): negative regulation of transcription by RNA polymerase II (GO:0000122), peptide antigen assembly with MHC class I protein complex (GO:0002502), regulation of DNA-templated transcription (GO:0006355), protein folding (GO:0006457), protein export from nucleus (GO:0006611), intracellular calcium ion homeostasis (GO:0006874), spermatogenesis (GO:0007283), positive regulation of cell population proliferation (GO:0008284), response to xenobiotic stimulus (GO:0009410), positive regulation of endothelial cell migration (GO:0010595), positive regulation of gene expression (GO:0010628), negative regulation of translation (GO:0017148), cortical actin cytoskeleton organization (GO:0030866), response to estradiol (GO:0032355), negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144), response to testosterone (GO:0033574), protein localization to nucleus (GO:0034504), protein folding in endoplasmic reticulum (GO:0034975), ERAD pathway (GO:0036503), regulation of meiotic nuclear division (GO:0040020), nuclear receptor-mediated glucocorticoid signaling pathway (GO:0042921), regulation of apoptotic process (GO:0042981), negative regulation of neuron differentiation (GO:0045665), positive regulation of cell cycle (GO:0045787), negative regulation of DNA-templated transcription (GO:0045892), negative regulation of retinoic acid receptor signaling pathway (GO:0048387), positive regulation of phagocytosis (GO:0050766), protein stabilization (GO:0050821), obsolete sequestering of calcium ion (GO:0051208), protein maturation (GO:0051604), cardiac muscle cell differentiation (GO:0055007), cellular response to electrical stimulus (GO:0071257), cellular response to lithium ion (GO:0071285), cellular senescence (GO:0090398), cellular response to virus (GO:0098586), positive regulation of substrate adhesion-dependent cell spreading (GO:1900026), negative regulation of trophoblast cell migration (GO:1901164), positive regulation of non-canonical NF-kappaB signal transduction (GO:1901224), response to peptide (GO:1901652), response to glycoside (GO:1903416)
GO Molecular Function (20): complement component C1q complex binding (GO:0001849), DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA binding (GO:0003729), nuclear export signal receptor activity (GO:0005049), integrin binding (GO:0005178), iron ion binding (GO:0005506), calcium ion binding (GO:0005509), zinc ion binding (GO:0008270), carbohydrate binding (GO:0030246), ubiquitin protein ligase binding (GO:0031625), peptide binding (GO:0042277), hormone binding (GO:0042562), protein folding chaperone (GO:0044183), nuclear androgen receptor binding (GO:0050681), obsolete unfolded protein binding (GO:0051082), protein-folding chaperone binding (GO:0051087), molecular sequestering activity (GO:0140313), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (36): acrosomal vesicle (GO:0001669), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nuclear envelope (GO:0005635), cytoplasm (GO:0005737), mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), smooth endoplasmic reticulum (GO:0005790), cytosol (GO:0005829), ribosome (GO:0005840), focal adhesion (GO:0005925), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020), phagocytic vesicle membrane (GO:0030670), extracellular matrix (GO:0031012), sarcoplasmic reticulum lumen (GO:0033018), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), MHC class I peptide loading complex (GO:0042824), cytolytic granule (GO:0044194), endoplasmic reticulum quality control compartment (GO:0044322), perinuclear region of cytoplasm (GO:0048471), cortical granule (GO:0060473), extracellular exosome (GO:0070062), endocytic vesicle lumen (GO:0071682), lumenal side of endoplasmic reticulum membrane (GO:0098553), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), lysosome (GO:0005764), endomembrane system (GO:0012505), sarcoplasmic reticulum (GO:0016529), cytoplasmic vesicle (GO:0031410), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-15 pathways:
| Category | Pathways |
|---|---|
| Binding and Uptake of Ligands by Scavenger Receptors | 2 |
| Class I MHC mediated antigen processing & presentation | 2 |
| Antigen processing-Cross presentation | 1 |
| Virus Assembly and Release | 1 |
| ATF6 (ATF6-alpha) activates chaperones | 1 |
| N-glycan trimming in the ER and Calnexin/Calreticulin cycle | 1 |
| Dengue Virus Genome Translation and Replication | 1 |
| Immune System | 1 |
| Viral Infection Pathways | 1 |
| Influenza Infection | 1 |
| Vesicle-mediated transport | 1 |
| Cellular responses to stimuli | 1 |
| Unfolded Protein Response (UPR) | 1 |
| Cellular responses to stress | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| binding | 4 |
| intracellular membrane-bounded organelle | 3 |
| cytoplasm | 3 |
| regulation of gene expression | 2 |
| nuclear export | 2 |
| response to chemical | 2 |
| response to lipid | 2 |
| protein folding | 2 |
| protein-containing complex binding | 2 |
| nucleic acid binding | 2 |
| transition metal ion binding | 2 |
| molecular_function | 2 |
| endomembrane system | 2 |
| endoplasmic reticulum | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| MHC class I protein complex assembly | 1 |
| antigen processing and presentation of peptide antigen via MHC class I | 1 |
| peptide antigen assembly with MHC protein complex | 1 |
| DNA-templated transcription | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| intracellular protein transport | 1 |
| intracellular monoatomic cation homeostasis | 1 |
| calcium ion homeostasis | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| regulation of endothelial cell migration | 1 |
| positive regulation of cell migration | 1 |
| endothelial cell migration | 1 |
| gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| translation | 1 |
| regulation of translation | 1 |
Protein interactions and networks
STRING
5180 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CALR | PDIA3 | P30101 | 999 |
| CALR | LRP1 | Q07954 | 998 |
| CALR | TAPBP | O15533 | 998 |
| CALR | B2M | P01884 | 990 |
| CALR | CANX | P27824 | 988 |
| CALR | THBS1 | P07996 | 988 |
| CALR | HSP90B1 | P14625 | 976 |
| CALR | MBL2 | P11226 | 974 |
| CALR | PPIB | P23284 | 962 |
| CALR | NUCLEOLIN | P19338 | 962 |
| CALR | HSP90AA1 | P07900 | 958 |
| CALR | HSP90AB1 | P08238 | 958 |
| CALR | HSPA5 | P11021 | 956 |
| CALR | TLR4 | O00206 | 952 |
| CALR | HSPA4 | P34932 | 949 |
IntAct
458 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| H2AX | PARP1 | psi-mi:“MI:0914”(association) | 0.840 |
| TAP1 | TAPBP | psi-mi:“MI:0914”(association) | 0.800 |
| TCTN2 | CLGN | psi-mi:“MI:0914”(association) | 0.780 |
| APP | CALR | psi-mi:“MI:0914”(association) | 0.740 |
| APP | CALR | psi-mi:“MI:0915”(physical association) | 0.740 |
| CALR | PDIA3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTNR1A | CALR | psi-mi:“MI:0915”(physical association) | 0.660 |
| INAVA | CYTH3 | psi-mi:“MI:0914”(association) | 0.640 |
| B2M | TAPBP | psi-mi:“MI:0915”(physical association) | 0.570 |
| CALR | TAF1B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GSC2 | CALR | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | SGTB | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CALR | DNASE1L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | FUT2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | GJA5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | GNAO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | HLA-DRB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | HSD3B1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | IDH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | KLRC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | LGALS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | LGALS8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | EPCAM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | MAGEA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | CNOT3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALR | PPEF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (547): CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Affinity Capture-MS), CALR (Two-hybrid), CALR (Affinity Capture-Western), CALR (Co-fractionation), CALR (Co-fractionation), CALR (Co-fractionation), CALR (Co-fractionation), CALR (Co-fractionation), CALR (Co-fractionation)
ESM2 similar proteins: A0A0D1C6P2, A8XA40, D4AVD4, E2RA18, J9VLH0, O04151, O04153, O14967, O81919, O82709, P11012, P14211, P18418, P24643, P27797, P27798, P27824, P28491, P29402, P29413, P34652, P35564, P35565, P36581, P52193, P52194, P83003, P93508, Q06814, Q23858, Q2HWU3, Q2TBR8, Q38798, Q38858, Q39817, Q39994, Q3SYT6, Q40401, Q4R6K8, Q4VIT5
Diamond homologs: A0A0D1C6P2, A8XA40, D4AVD4, E2RA18, J9VLH0, O04151, O04153, O14967, O81919, O82709, P11012, P14211, P15253, P18418, P24643, P27797, P27798, P27824, P27825, P28491, P29402, P29413, P34652, P35564, P35565, P36581, P52193, P52194, P83003, P93508, Q06814, Q23858, Q2HWU3, Q2TBR8, Q38798, Q38858, Q39817, Q39994, Q3SYT6, Q40401
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 160 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Antigen Presentation: Folding, assembly and peptide loading of class I MHC | 6 | 21.3× | 2e-04 |
| ER-Phagosome pathway | 8 | 9.3× | 7e-04 |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
96 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 11 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1028735 | NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs) | Pathogenic |
SpliceAI
928 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:12938768:G:GT | donor_gain | 1.0000 |
| 19:12939130:TTAG:T | acceptor_loss | 1.0000 |
| 19:12939131:TAGAC:T | acceptor_loss | 1.0000 |
| 19:12939132:A:AG | acceptor_gain | 1.0000 |
| 19:12939132:AGAC:A | acceptor_gain | 1.0000 |
| 19:12939132:AGACG:A | acceptor_gain | 1.0000 |
| 19:12939133:G:GG | acceptor_gain | 1.0000 |
| 19:12939133:G:GT | acceptor_loss | 1.0000 |
| 19:12939133:GAC:G | acceptor_gain | 1.0000 |
| 19:12939133:GACG:G | acceptor_gain | 1.0000 |
| 19:12939133:GACGG:G | acceptor_gain | 1.0000 |
| 19:12939426:AG:A | acceptor_gain | 1.0000 |
| 19:12939427:GG:G | acceptor_gain | 1.0000 |
| 19:12939427:GGT:G | acceptor_gain | 1.0000 |
| 19:12939627:GTTTG:G | donor_gain | 1.0000 |
| 19:12939630:TGGTG:T | donor_loss | 1.0000 |
| 19:12939631:GGTG:G | donor_loss | 1.0000 |
| 19:12939632:G:GA | donor_loss | 1.0000 |
| 19:12939632:G:GG | donor_gain | 1.0000 |
| 19:12939633:T:A | donor_loss | 1.0000 |
| 19:12940046:C:G | acceptor_gain | 1.0000 |
| 19:12940048:C:G | acceptor_gain | 1.0000 |
| 19:12940048:CCTA:C | acceptor_loss | 1.0000 |
| 19:12940049:CTAGG:C | acceptor_loss | 1.0000 |
| 19:12940050:TAG:T | acceptor_loss | 1.0000 |
| 19:12940051:A:AC | acceptor_loss | 1.0000 |
| 19:12940051:A:AG | acceptor_gain | 1.0000 |
| 19:12940052:G:GG | acceptor_gain | 1.0000 |
| 19:12940133:GACA:G | donor_gain | 1.0000 |
| 19:12940144:CAAGG:C | donor_loss | 1.0000 |
AlphaMissense
2830 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:12939454:T:C | F74L | 1.000 |
| 19:12939456:T:A | F74L | 1.000 |
| 19:12939456:T:G | F74L | 1.000 |
| 19:12939547:T:A | C105S | 1.000 |
| 19:12939547:T:C | C105R | 1.000 |
| 19:12939548:G:A | C105Y | 1.000 |
| 19:12939548:G:C | C105S | 1.000 |
| 19:12939548:G:T | C105F | 1.000 |
| 19:12939549:T:G | C105W | 1.000 |
| 19:12939551:G:A | G106E | 1.000 |
| 19:12939565:A:G | K111E | 1.000 |
| 19:12939567:G:C | K111N | 1.000 |
| 19:12939567:G:T | K111N | 1.000 |
| 19:12939631:G:C | G133R | 1.000 |
| 19:12940053:G:A | G133D | 1.000 |
| 19:12940058:G:C | D135H | 1.000 |
| 19:12940059:A:T | D135V | 1.000 |
| 19:12940064:T:A | C137S | 1.000 |
| 19:12940064:T:C | C137R | 1.000 |
| 19:12940065:G:A | C137Y | 1.000 |
| 19:12940065:G:C | C137S | 1.000 |
| 19:12940065:G:T | C137F | 1.000 |
| 19:12940066:T:G | C137W | 1.000 |
| 19:12940088:C:G | H145D | 1.000 |
| 19:12940271:T:C | L174P | 1.000 |
| 19:12940595:T:A | W253R | 1.000 |
| 19:12940595:T:C | W253R | 1.000 |
| 19:12940597:G:C | W253C | 1.000 |
| 19:12940597:G:T | W253C | 1.000 |
| 19:12940619:T:A | W261R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000233859 (19:12938498 AC>A), RS1000416138 (19:12941902 C>T), RS1000468582 (19:12942199 T>C), RS1000629156 (19:12942229 G>C,T), RS1000646103 (19:12936789 G>A), RS1000842095 (19:12937756 C>T), RS1000890928 (19:12942319 T>G), RS1001540161 (19:12937962 G>C), RS1001584139 (19:12942873 C>T), RS1001915386 (19:12938004 G>A), RS1002033044 (19:12942870 C>T), RS1002085136 (19:12943044 G>A), RS1002142483 (19:12943285 C>G,T), RS1002182121 (19:12941936 A>G), RS1002333831 (19:12937466 G>A)
Disease associations
OMIM: gene MIM:109091 | disease phenotypes: MIM:187950, MIM:254450
GenCC curated gene-disease
Mondo (2): thrombocythemia 1 (MONDO:0008554), primary myelofibrosis (MONDO:0009692)
Orphanet (1): Primary myelofibrosis (Orphanet:824)
HPO phenotypes
84 total (30 of 84 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000083 | Renal insufficiency |
| HP:0000505 | Visual impairment |
| HP:0000952 | Jaundice |
| HP:0000967 | Petechiae |
| HP:0000978 | Bruising susceptibility |
| HP:0000979 | Purpura |
| HP:0000980 | Pallor |
| HP:0001028 | Hemangioma |
| HP:0001082 | Cholecystitis |
| HP:0001394 | Cirrhosis |
| HP:0001409 | Portal hypertension |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0001541 | Ascites |
| HP:0001658 | Myocardial infarction |
| HP:0001744 | Splenomegaly |
| HP:0001824 | Weight loss |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0001873 | Thrombocytopenia |
| HP:0001876 | Pancytopenia |
| HP:0001892 | Abnormal bleeding |
| HP:0001894 | Thrombocytosis |
| HP:0001903 | Anemia |
| HP:0001945 | Fever |
| HP:0001974 | Increased total leukocyte count |
| HP:0001977 | Abnormal thrombosis |
| HP:0001978 | Extramedullary hematopoiesis |
| HP:0002024 | Malabsorption |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001765_24 | Red blood cell traits | 8.000000e-20 |
| GCST002595_9 | Clozapine-induced agranulocytosis | 1.000000e-06 |
| GCST008058_230 | Estimated glomerular filtration rate | 7.000000e-12 |
| GCST90002402_616 | Platelet count | 9.000000e-10 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004309 | platelet count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D055728 | Primary Myelofibrosis | C15.378.190.636.765 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066425 (SINGLE PROTEIN)
Clinical evidence (CIViC)
Drug × variant × indication: 1 predictive associations from 1 curated evidence items; also 6 prognostic, 1 diagnostic.
| Variant | Therapy | Indication | Effect | Level | CIViC |
|---|---|---|---|---|---|
| CALR EXON 9 FRAMESHIFT | Peginterferon Alfa-2a | Essential Thrombocythemia | Sensitivity/Response | CIViC B | EID1482 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
119 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tunicamycin | increases expression | 6 |
| bisphenol A | affects expression, affects cotreatment, decreases methylation, decreases expression, increases expression | 5 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 5 |
| Cadmium Chloride | decreases reaction, increases abundance, increases palmitoylation, increases expression | 4 |
| Thapsigargin | increases expression | 4 |
| Resveratrol | affects secretion, decreases reaction, increases expression, decreases expression | 3 |
| Doxorubicin | affects expression, affects cotreatment, affects localization, increases expression, increases reaction (+1 more) | 3 |
| Tobacco Smoke Pollution | affects expression, increases expression | 3 |
| cobaltous chloride | decreases expression | 2 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| 7,8-diacetoxy-4-methylcoumarin | increases activity, increases acetylation, increases reaction | 2 |
| Arsenic Trioxide | decreases expression, increases expression, decreases reaction | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Air Pollutants | increases abundance, increases oxidation, increases expression, affects cotreatment | 2 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 2 |
| Rotenone | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression, affects reaction | 2 |
| Aflatoxin B1 | increases methylation | 2 |
| Okadaic Acid | increases expression | 2 |
| Particulate Matter | increases expression, affects expression, increases abundance | 2 |
| bisphenol F | increases expression | 1 |
| beta-N-methylamino-L-alanine | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| chlorophyllin | decreases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| titanium dioxide | increases phosphorylation | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651023 | Binding | Binding affinity to human CALR incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
9 cell lines: 7 cancer cell line, 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_6992 | Marimo | Cancer cell line | Female |
| CVCL_B8CC | Abcam HCT 116 CALR KO | Cancer cell line | Male |
| CVCL_B8T8 | Abcam MCF-7 CALR KO | Cancer cell line | Female |
| CVCL_B9EI | Abcam A-549 CALR KO | Cancer cell line | Male |
| CVCL_LK61 | INCABRi001-A | Induced pluripotent stem cell | Female |
| CVCL_SG61 | HAP1 CALR (-) 1 | Cancer cell line | Male |
| CVCL_SG62 | HAP1 CALR (-) 2 | Cancer cell line | Male |
| CVCL_SG63 | HAP1 CALR (-) 3 | Cancer cell line | Male |
| CVCL_VD83 | INCABRi002-A | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
173 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01558739 | PHASE4 | COMPLETED | Exploratory Phase II Study of INC424 Patients With Primary Myelofibrosis (PMF) or Post Polycythaemia Myelofibrosis (PPV MF) or Post Essential Thrombocythaemia Myelofibrosis (PET-MF) |
| NCT02386800 | PHASE4 | ACTIVE_NOT_RECRUITING | CINC424A2X01B Rollover Protocol |
| NCT00799461 | PHASE3 | COMPLETED | Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications |
| NCT01178281 | PHASE3 | COMPLETED | Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence |
| NCT01387763 | PHASE3 | COMPLETED | A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms |
| NCT01773187 | PHASE3 | TERMINATED | Pacritinib Versus Best Available Therapy to Treat Myelofibrosis |
| NCT01969838 | PHASE3 | COMPLETED | Momelotinib Versus Ruxolitinib in Subjects With Myelofibrosis |
| NCT02055781 | PHASE3 | TERMINATED | Pacritinib Versus Best Available Therapy to Treat Patients With Myelofibrosis and Thrombocytopenia |
| NCT02087059 | PHASE3 | COMPLETED | A Clinical Study of Ruxolitinib in Patients With Primary Myelofibrosis (PM), Post-polycythemia Vera (PV) Myelofibrosis, or Post-essential Thrombocythemia (ET) Myelofibrosis |
| NCT02101268 | PHASE3 | COMPLETED | Efficacy of Momelotinib Versus Best Available Therapy in Anemic or Thrombocytopenic Subjects With Primary Myelofibrosis (MF), Post-polycythemia Vera MF, or Post-essential Thrombocythemia MF |
| NCT03165734 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study of Pacritinib in Patients With Primary Myelofibrosis, Post Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis |
| NCT03755518 | PHASE3 | TERMINATED | A Trial of Fedratinib in Subjects With DIPSS, Intermediate or High-Risk Primary Myelofibrosis, Post-Polycythemia Vera Myelofibrosis, or Post-Essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib |
| NCT03952039 | PHASE3 | COMPLETED | An Efficacy and Safety Study of Fedratinib Compared to Best Available Therapy in Subjects With DIPSS-intermediate or High-risk Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib |
| NCT04173494 | PHASE3 | COMPLETED | A Study of Momelotinib Versus Danazol in Symptomatic and Anemic Myelofibrosis Participants (MOMENTUM) |
| NCT04551053 | PHASE3 | TERMINATED | To Evaluate Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib (LIMBER-304) |
| NCT04551066 | PHASE3 | TERMINATED | To Evaluate the Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis (LIMBER-313) |
| NCT04603495 | PHASE3 | ACTIVE_NOT_RECRUITING | Phase 3 Study of Pelabresib (CPI-0610) in Myelofibrosis (MF) (MANIFEST-2) |
| NCT04717414 | PHASE3 | ACTIVE_NOT_RECRUITING | An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis on Concomitant JAK2 Inhibitor Therapy and Who Require Red Blood Cell Transfusions |
| NCT06351631 | PHASE3 | RECRUITING | A Study to Evaluate Safety and Efficacy of Bomedemstat (MK-3543-017) |
| NCT06468033 | PHASE3 | RECRUITING | P1101 in Treating Patients With Early PMF or Overt PMF at Low or Intermediate-1 Risk |
| NCT06479135 | PHASE3 | RECRUITING | Study of Navtemadlin add-on to Ruxolitinib in JAK Inhibitor-Naïve Patients With Myelofibrosis Who Have a Suboptimal Response to Ruxolitinib |
| NCT07357727 | PHASE3 | RECRUITING | A Phase 3 Study of Pelabresib (DAK539) and Ruxolitinib in Myelofibrosis (MF) |
| NCT00015821 | PHASE2 | COMPLETED | Thalidomide in Treating Patients With Myelofibrosis |
| NCT00039416 | PHASE2 | COMPLETED | Imatinib Mesylate in Treating Patients With Myelofibrosis |
| NCT00047190 | PHASE2 | COMPLETED | Tipifarnib in Treating Patients With Myelofibrosis and Myeloid Metaplasia |
| NCT00086125 | PHASE2 | COMPLETED | Study of AP23573 in Patients With Relapsed or Refractory Hematologic Malignancies (8669-024)(COMPLETED) |
| NCT00089011 | PHASE2 | COMPLETED | Tacrolimus and Mycophenolate Mofetil in Preventing Graft-Versus-Host Disease in Patients Who Have Undergone Total-Body Irradiation With or Without Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant for Hematologic Cancer |
| NCT00095784 | PHASE2 | ACTIVE_NOT_RECRUITING | Decitabine in Treating Patients With Myelofibrosis |
| NCT00136409 | PHASE2 | COMPLETED | A Study of Gleevec in Patients With Idiopathic Myelofibrosis or Chronic Myelomonocytic Leukemia (CMML) |
| NCT00227591 | PHASE2 | COMPLETED | Lenalidomide and Prednisone in Treating Patients With Myelofibrosis |
| NCT00255346 | PHASE2 | COMPLETED | Dasatinib as Therapy for Myeloproliferative Disorders (MPDs) |
| NCT00287261 | PHASE2 | COMPLETED | A Trial of Zoledronic Acid in Patients With Myelofibrosis With Myeloid Metaplasia (MMM) |
| NCT00381550 | PHASE2 | COMPLETED | 3-AP and Fludarabine in Treating Patients With Myeloproliferative Disorders, Chronic Myelomonocytic Leukemia, or Accelerated Phase or Blastic Phase Chronic Myelogenous Leukemia |
| NCT00387426 | PHASE2 | TERMINATED | Sunitinib in Treating Patients With Idiopathic Myelofibrosis |
| NCT00397813 | PHASE2 | COMPLETED | Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders |
| NCT00463385 | PHASE2 | COMPLETED | A Phase II Study of Pomalidomide in Myelofibrosis With Myeloid Metaplasia |
| NCT00489203 | PHASE2 | COMPLETED | Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer |
| NCT00570999 | PHASE2 | WITHDRAWN | Palifermin After Haploidentical PBSCT |
| NCT00795769 | PHASE2 | COMPLETED | Ondansetron in Preventing Nausea and Vomiting in Patients Undergoing Stem Cell Transplant |
| NCT00931762 | PHASE2 | TERMINATED | A Study to Evaluate Safety and Efficacy of Panobinostat in Participants With Primary Myelofibrosis |
Related Atlas pages
- Associated diseases: essential thrombocythemia
- Biomarker drugs (CIViC) (drugs whose response is associated with variants in this gene — CIViC predictive evidence, not targeting): Peginterferon Alfa-2a
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): essential thrombocythemia, myelofibrosis, primary myelofibrosis, thrombocythemia 1