INSL6
geneOn this page
Also known as RIF1
Summary
INSL6 (insulin like 6, HGNC:6089) is a protein-coding gene on chromosome 9p24.1, encoding Insulin-like peptide INSL6 (Q9Y581). May have a role in sperm development and fertilization.
The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization.
Source: NCBI Gene 11172 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 623 total — 2 pathogenic, 4 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_007179
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6089 |
| Approved symbol | INSL6 |
| Name | insulin like 6 |
| Location | 9p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RIF1 |
| Ensembl gene | ENSG00000120210 |
| Ensembl biotype | protein_coding |
| OMIM | 606414 |
| Entrez | 11172 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000381641, ENST00000510407, ENST00000649639
RefSeq mRNA: 1 — MANE Select: NM_007179
NM_007179
CCDS: CCDS6458
Canonical transcript exons
ENST00000381641 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001489323 | 5163868 | 5164265 |
| ENSE00001489329 | 5185314 | 5185639 |
Expression profiles
Bgee: expression breadth ubiquitous, 152 present calls, max score 88.50.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0364 / max 21.6521, expressed in 10 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99814 | 0.0328 | 10 |
| 205419 | 0.0036 | 2 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.50 | gold quality |
| left testis | UBERON:0004533 | 83.39 | gold quality |
| right testis | UBERON:0004534 | 83.25 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.38 | gold quality |
| testis | UBERON:0000473 | 81.19 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 74.90 | gold quality |
| monocyte | CL:0000576 | 73.01 | gold quality |
| mononuclear cell | CL:0000842 | 72.80 | gold quality |
| leukocyte | CL:0000738 | 70.89 | gold quality |
| popliteal artery | UBERON:0002250 | 70.40 | gold quality |
| tibial artery | UBERON:0007610 | 70.35 | gold quality |
| aorta | UBERON:0000947 | 67.67 | gold quality |
| tendon | UBERON:0000043 | 67.27 | gold quality |
| ascending aorta | UBERON:0001496 | 64.69 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 64.62 | gold quality |
| thoracic aorta | UBERON:0001515 | 64.40 | gold quality |
| left coronary artery | UBERON:0001626 | 61.82 | gold quality |
| adrenal tissue | UBERON:0018303 | 60.78 | gold quality |
| skin of abdomen | UBERON:0001416 | 60.44 | gold quality |
| coronary artery | UBERON:0001621 | 60.38 | gold quality |
| skin of leg | UBERON:0001511 | 60.35 | gold quality |
| bone marrow cell | CL:0002092 | 59.63 | gold quality |
| ectocervix | UBERON:0012249 | 59.63 | gold quality |
| adult organism | UBERON:0007023 | 59.24 | silver quality |
| tibial nerve | UBERON:0001323 | 59.03 | gold quality |
| right coronary artery | UBERON:0001625 | 58.41 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 58.40 | gold quality |
| right ovary | UBERON:0002118 | 58.31 | gold quality |
| zone of skin | UBERON:0000014 | 57.74 | gold quality |
| right lung | UBERON:0002167 | 57.59 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6075 | yes | 593.60 |
| E-MTAB-6678 | no | 4.05 |
| E-ANND-3 | no | 3.24 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- Myocardial Infarction-Induced INSL6 Decrease Contributes to Breast Cancer Progression. (PMID:36798786)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Insl6 | ENSMUSG00000050957 |
| rattus_norvegicus | Insl6 | ENSRNOG00000015868 |
Paralogs (3): RLN2 (ENSG00000107014), RLN1 (ENSG00000107018), INSL4 (ENSG00000120211)
Protein
Protein identifiers
Insulin-like peptide INSL6 — Q9Y581 (reviewed: Q9Y581)
Alternative names: Relaxin/insulin-like factor 1
All UniProt accessions (2): A0A3B3ITZ2, Q9Y581
UniProt curated annotations — full annotation on UniProt →
Function. May have a role in sperm development and fertilization.
Subcellular location. Secreted.
Tissue specificity. Testis specific.
Similarity. Belongs to the insulin family.
RefSeq proteins (1): NP_009110* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR016179 | Insulin-like | Domain |
| IPR017100 | Insulin-like_pep_6 | Family |
| IPR022353 | Insulin_CS | Conserved_site |
| IPR036438 | Insulin-like_sf | Homologous_superfamily |
| IPR051042 | Repro_Hormone_Insulin-like | Family |
Pfam: PF00049
UniProt features (11 total): disulfide bond 3, peptide 2, propeptide 2, signal peptide 1, chain 1, sequence conflict 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y581-F1 | 54.46 | 0.01 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 33–179, 45–192, 178–183
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
HATADA_METHYLATED_IN_LUNG_CANCER_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOMF_SIGNALING_RECEPTOR_BINDING, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, WEBER_METHYLATED_HCP_IN_SPERM_DN, GOMF_HORMONE_ACTIVITY, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, BRUINS_UVC_RESPONSE_LATE, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_UP, DURAND_STROMA_NS_UP, ATF2_S_UP.V1_UP, CAHOY_ASTROGLIAL, GSE13522_WT_VS_IFNAR_KO_SKIN_UP, GSE14699_DELETIONAL_TOLERANCE_VS_ACTIVATED_CD8_TCELL_DN
GO Biological Process (1): signal transduction (GO:0007165)
GO Molecular Function (1): hormone activity (GO:0005179)
GO Cellular Component (1): extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
462 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INSL6 | INSL4 | Q14641 | 979 |
| INSL6 | RLN3 | Q8WXF3 | 771 |
| INSL6 | INSL5 | Q9Y5Q6 | 742 |
| INSL6 | INSL3 | P51460 | 704 |
| INSL6 | RXFP3 | Q9NSD7 | 662 |
| INSL6 | RXFP4 | Q8TDU9 | 639 |
| INSL6 | RXFP1 | Q9HBX9 | 625 |
| INSL6 | RXFP2 | Q8WXD0 | 582 |
| INSL6 | RLN2 | P04090 | 559 |
| INSL6 | SRY | Q05066 | 504 |
| INSL6 | RLN1 | P04808 | 475 |
| INSL6 | C10orf120 | Q5SQS8 | 475 |
| INSL6 | C5orf47 | Q569G3 | 445 |
| INSL6 | PLGRKT | Q9HBL7 | 434 |
| INSL6 | SVOP | Q8N4V2 | 430 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INSL6 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| INSL6 | MYCBP2 | psi-mi:“MI:0914”(association) | 0.530 |
| INSL6 | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB39B | RAB5A | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (41): WBP5 (Affinity Capture-MS), UBAC1 (Affinity Capture-MS), GID4 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), WDR26 (Affinity Capture-MS), ZMYND19 (Affinity Capture-MS), MKLN1 (Affinity Capture-MS), PPM1A (Affinity Capture-MS), ACIN1 (Affinity Capture-MS), MAEA (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), ARMC8 (Affinity Capture-MS), RMND5A (Affinity Capture-MS), LRP2 (Affinity Capture-MS), GID8 (Affinity Capture-MS)
ESM2 similar proteins: A2BDC9, A6NM62, E9Q793, O08999, O35806, O55233, O95813, P13207, P22389, P23499, P23943, P24054, P29560, P35054, P70041, P86275, Q07G34, Q14515, Q17R60, Q2Q0I9, Q3UU94, Q3V1M1, Q4V9H3, Q4ZHG4, Q5K027, Q5NRP8, Q5NRP9, Q5NRQ1, Q5QQ37, Q68CR7, Q6WRH9, Q6WRI0, Q701R2, Q701R3, Q701R4, Q76K27, Q8CG19, Q8JIR8, Q8JZQ0, Q8R1W8
Diamond homologs: P01347, P01348, P04090, P04808, P19884, P22969, P47932, P51453, P51454, P51455, P51456, Q5CZK6, Q64171, Q9MYK8, Q9TRM8, Q9Y581, Q32L79, Q9QY05, Q9WV41, P11952
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
623 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 4 |
| Uncertain significance | 362 |
| Likely benign | 159 |
| Benign | 54 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 14664 | NM_004972.4(JAK2):c.1615_1616inv (p.Lys539Leu) | Pathogenic |
| 29763 | NM_004972.4(JAK2):c.1849G>A (p.Val617Ile) | Pathogenic |
| 2136731 | NM_004972.4(JAK2):c.2600G>A (p.Arg867Gln) | Likely pathogenic |
| 2504150 | NM_004972.4(JAK2):c.226+1G>T | Likely pathogenic |
| 3391058 | NM_004972.4(JAK2):c.3284C>T (p.Pro1095Leu) | Likely pathogenic |
| 4813688 | NM_004972.4(JAK2):c.2813G>A (p.Arg938Gln) | Likely pathogenic |
SpliceAI
421 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:5164266:C:CC | acceptor_gain | 1.0000 |
| 9:5126326:GTTTT:G | acceptor_loss | 0.9900 |
| 9:5126327:TTTTA:T | acceptor_loss | 0.9900 |
| 9:5126328:TTTAG:T | acceptor_loss | 0.9900 |
| 9:5126329:TTA:T | acceptor_loss | 0.9900 |
| 9:5126330:TA:T | acceptor_loss | 0.9900 |
| 9:5126331:A:AC | acceptor_loss | 0.9900 |
| 9:5126331:A:AG | acceptor_gain | 0.9900 |
| 9:5126332:G:GC | acceptor_loss | 0.9900 |
| 9:5126332:G:GG | acceptor_gain | 0.9900 |
| 9:5126332:GGA:G | acceptor_gain | 0.9900 |
| 9:5126442:A:G | donor_gain | 0.9900 |
| 9:5126445:AGGT:A | donor_loss | 0.9900 |
| 9:5126446:GG:G | donor_loss | 0.9900 |
| 9:5126447:G:GA | donor_loss | 0.9900 |
| 9:5126448:T:A | donor_loss | 0.9900 |
| 9:5126682:A:AG | acceptor_gain | 0.9900 |
| 9:5126683:G:GG | acceptor_gain | 0.9900 |
| 9:5126683:GATCT:G | acceptor_gain | 0.9900 |
| 9:5164264:CA:C | acceptor_gain | 0.9900 |
| 9:5185312:AC:A | donor_loss | 0.9900 |
| 9:5185313:C:A | donor_loss | 0.9900 |
| 9:5126678:TTACA:T | acceptor_loss | 0.9800 |
| 9:5126679:TACAG:T | acceptor_loss | 0.9800 |
| 9:5126680:ACAGA:A | acceptor_loss | 0.9800 |
| 9:5126681:CAG:C | acceptor_loss | 0.9800 |
| 9:5126682:A:C | acceptor_loss | 0.9800 |
| 9:5164262:GACA:G | acceptor_gain | 0.9800 |
| 9:5126325:T:A | acceptor_loss | 0.9600 |
| 9:5126683:GAT:G | acceptor_gain | 0.9600 |
AlphaMissense
1377 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:5185453:C:A | W50C | 0.986 |
| 9:5185453:C:G | W50C | 0.986 |
| 9:5164007:C:G | C183S | 0.981 |
| 9:5164008:A:T | C183S | 0.981 |
| 9:5163992:A:G | L188P | 0.975 |
| 9:5164022:C:G | C178S | 0.974 |
| 9:5164023:A:T | C178S | 0.974 |
| 9:5164008:A:G | C183R | 0.968 |
| 9:5185469:C:G | C45S | 0.968 |
| 9:5185470:A:T | C45S | 0.968 |
| 9:5164023:A:G | C178R | 0.967 |
| 9:5185493:A:G | L37S | 0.965 |
| 9:5163981:A:G | C192R | 0.963 |
| 9:5163992:A:T | L188H | 0.963 |
| 9:5164048:T:A | R169S | 0.962 |
| 9:5164048:T:G | R169S | 0.962 |
| 9:5185469:C:T | C45Y | 0.961 |
| 9:5185505:C:G | C33S | 0.961 |
| 9:5185506:A:T | C33S | 0.961 |
| 9:5164019:C:G | C179S | 0.960 |
| 9:5164020:A:T | C179S | 0.960 |
| 9:5164021:A:C | C178W | 0.959 |
| 9:5164020:A:G | C179R | 0.957 |
| 9:5164007:C:T | C183Y | 0.956 |
| 9:5164018:A:C | C179W | 0.956 |
| 9:5163983:G:T | A191E | 0.955 |
| 9:5185503:C:A | G34C | 0.955 |
| 9:5164066:C:A | W163C | 0.954 |
| 9:5164066:C:G | W163C | 0.954 |
| 9:5185470:A:G | C45R | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1000043085 (9:4995488 T>G), RS1000051902 (9:5143137 A>C), RS1000062956 (9:5131229 A>G), RS1000080672 (9:5162885 G>C), RS1000084644 (9:5085251 C>A,T), RS1000092136 (9:5040011 T>G), RS1000096910 (9:5063855 A>G), RS1000126932 (9:5131574 A>T), RS1000138589 (9:5088193 A>G), RS1000156895 (9:5116522 G>C), RS1000158426 (9:5115798 A>G), RS1000179472 (9:5105379 G>A), RS1000216432 (9:5035466 T>C), RS1000258206 (9:5120425 T>A), RS1000279916 (9:5101454 G>A)
Disease associations
OMIM: gene MIM:606414 | disease phenotypes: MIM:133100, MIM:254450, MIM:263300, MIM:600880, MIM:614521, MIM:601626, MIM:600807
GenCC curated gene-disease
Mondo (9): primary familial polycythemia due to EPO receptor mutation (MONDO:0007572), primary myelofibrosis (MONDO:0009692), acquired polycythemia vera (MONDO:0009891), Budd-Chiari syndrome (MONDO:0010947), thrombocythemia 3 (MONDO:0013794), acute myeloid leukemia (MONDO:0018874), inherited susceptibility to asthma (MONDO:0010940), polycythemia (MONDO:0005571), primary ovarian failure (MONDO:0005387)
Orphanet (7): Budd-Chiari syndrome (Orphanet:131), Acute myeloid leukemia (Orphanet:519), Polycythemia vera (Orphanet:729), Primary myelofibrosis (Orphanet:824), Primary familial polycythemia (Orphanet:90042), Polycythemia (Orphanet:98427), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001901 | Polycythemia |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000529_4 | Ulcerative colitis | 1.000000e-06 |
| GCST003264_760 | Post bronchodilator FEV1/FVC ratio | 2.000000e-07 |
| GCST90002402_103 | Platelet count | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004713 | FEV/FVC ratio |
| EFO:0004309 | platelet count |
MeSH disease descriptors (6)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D006502 | Budd-Chiari Syndrome | C06.552.347; C14.907.355.830.925.275 |
| D015470 | Leukemia, Myeloid, Acute | C04.557.337.539.275; C15.378.508.539.275 |
| D011086 | Polycythemia | C15.378.738 |
| D011087 | Polycythemia Vera | C04.588.448.200.500; C15.378.190.250.500; C15.378.190.636.753; C15.378.400.200.500 |
| D055728 | Primary Myelofibrosis | C15.378.190.636.765 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12343867 | INSL6, JAK2 | 0.00 | 0 | ||
| rs77375493 | INSL6, JAK2 | 0.00 | 0 |
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| testosterone undecanoate | affects cotreatment, increases expression | 1 |
| arsenite | decreases methylation, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Levonorgestrel | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
258 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 |
| NCT05853458 | PHASE4 | TERMINATED | Evaluation of HU-resistance in Adult Patients With Polycythemia Vera Who Meet PV-AIM Predictors |
| NCT06290765 | PHASE4 | NOT_YET_RECRUITING | Efficacy and Safety of Ropeginterferon Alfa 2b (P1101) for Patients With Polycythemia Vera |
| 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) |
| NCT01243944 | PHASE3 | COMPLETED | Study of Efficacy and Safety in Polycythemia Vera Subjects Who Are Resistant to or Intolerant of Hydroxyurea: JAK Inhibitor INC424 (INCB018424) Tablets Versus Best Available Care: (The RESPONSE Trial) |
| NCT01632904 | PHASE3 | COMPLETED | Randomized Switch Study From Hydroxyurea to Ruxolitinib for RELIEF of Polycythemia Vera Symptoms: The Relief Study |
| NCT01645124 | PHASE3 | TERMINATED | Large-scale Trial Testing the Intensity of CYTOreductive Therapy in Polycythemia Vera (PV) |
| NCT01949805 | PHASE3 | COMPLETED | Pegylated Interferon Alpha-2b Versus Hydroxyurea in Polycythemia Vera |
| NCT02038036 | PHASE3 | COMPLETED | Ruxolitinib Efficacy and Safety in Patients With HU Resistant or Intolerant Polycythemia Vera vs Best Available Therapy. |
| NCT02218047 | PHASE3 | COMPLETED | AOP2014 vs. BAT in Patients With Polycythemia Vera Who Previously Participated in the PROUD-PV Study. |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acquired polycythemia vera, acute myeloid leukemia, Budd-Chiari syndrome, inherited susceptibility to asthma, polycythemia, primary familial polycythemia due to EPO receptor mutation, primary myelofibrosis, thrombocythemia 3