CST4
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Summary
CST4 (cystatin S, HGNC:2476) is a protein-coding gene on chromosome 20p11.21, encoding Cystatin-S (P01036). This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain.
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function.
Source: NCBI Gene 1472 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_001899
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2476 |
| Approved symbol | CST4 |
| Name | cystatin S |
| Location | 20p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000101441 |
| Ensembl biotype | protein_coding |
| OMIM | 123857 |
| Entrez | 1472 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000217423
RefSeq mRNA: 1 — MANE Select: NM_001899
NM_001899
CCDS: CCDS13159
Canonical transcript exons
ENST00000217423 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001638329 | 23687088 | 23687201 |
| ENSE00001651330 | 23688742 | 23689038 |
| ENSE00001906687 | 23685640 | 23685977 |
Expression profiles
Bgee: expression breadth broad, 76 present calls, max score 95.48.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8724 / max 1190.2326, expressed in 6 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186728 | 0.2154 | 4 |
| 186723 | 0.1886 | 2 |
| 186721 | 0.1185 | 2 |
| 186729 | 0.1148 | 2 |
| 186724 | 0.0990 | 3 |
| 186725 | 0.0649 | 2 |
| 186722 | 0.0332 | 3 |
| 186727 | 0.0169 | 2 |
| 186730 | 0.0118 | 2 |
| 186726 | 0.0094 | 2 |
Top tissues by expression
216 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 95.48 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.40 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.05 | gold quality |
| gall bladder | UBERON:0002110 | 87.66 | gold quality |
| decidua | UBERON:0002450 | 82.54 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 81.04 | gold quality |
| periodontal ligament | UBERON:0008266 | 80.59 | silver quality |
| trachea | UBERON:0003126 | 77.17 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 74.11 | gold quality |
| tongue | UBERON:0001723 | 72.45 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 71.87 | silver quality |
| epithelium of nasopharynx | UBERON:0001951 | 71.58 | gold quality |
| thymus | UBERON:0002370 | 71.34 | silver quality |
| CA1 field of hippocampus | UBERON:0003881 | 71.33 | silver quality |
| adult organism | UBERON:0007023 | 71.29 | gold quality |
| superior surface of tongue | UBERON:0007371 | 70.76 | gold quality |
| olfactory bulb | UBERON:0002264 | 70.29 | gold quality |
| saphenous vein | UBERON:0007318 | 70.11 | gold quality |
| type B pancreatic cell | CL:0000169 | 70.03 | gold quality |
| buccal mucosa cell | CL:0002336 | 69.99 | gold quality |
| male germ cell | CL:0000015 | 69.89 | silver quality |
| myocardium | UBERON:0002349 | 69.77 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 69.63 | silver quality |
| sperm | CL:0000019 | 69.62 | silver quality |
| synovial joint | UBERON:0002217 | 69.52 | silver quality |
| lateral globus pallidus | UBERON:0002476 | 68.61 | gold quality |
| oocyte | CL:0000023 | 68.51 | gold quality |
| hair follicle | UBERON:0002073 | 68.01 | silver quality |
| trigeminal ganglion | UBERON:0001675 | 67.94 | silver quality |
| vena cava | UBERON:0004087 | 67.85 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 476.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
17 targeting CST4, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-452-5P | 99.65 | 69.63 | 1762 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-4663 | 99.62 | 65.33 | 957 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-4269 | 99.55 | 69.89 | 1373 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-4483 | 98.09 | 64.12 | 1642 |
| HSA-MIR-1293 | 96.16 | 64.69 | 916 |
Literature-anchored findings (GeneRIF, showing 3)
- Findings suggest the mechanism of inhibition of SAP-1 (an N-terminal truncated form of cystatin S) for different proteases. (PMID:24261636)
- Prognostic value of immune-related cells and genes in the tumor microenvironment of ovarian cancer, especially CST4. (PMID:33811900)
- The Diagnosis Significance of Serum Cysteine Protease Inhibitors (CST4) in Colorectal Cancer. (PMID:37122229)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:busm1-57f23.1 | ENSDARG00000074425 |
| caenorhabditis_elegans | WBGENE00000534 | |
| caenorhabditis_elegans | WBGENE00000535 | |
| caenorhabditis_elegans | WBGENE00023486 |
Paralogs (11): CST7 (ENSG00000077984), CST9L (ENSG00000101435), CST3 (ENSG00000101439), CST8 (ENSG00000125815), CSTL1 (ENSG00000125823), CST11 (ENSG00000125831), CST5 (ENSG00000170367), CST2 (ENSG00000170369), CST1 (ENSG00000170373), CST9 (ENSG00000173335), CST6 (ENSG00000175315)
Protein
Protein identifiers
Cystatin-S — P01036 (reviewed: P01036)
Alternative names: Cystatin-4, Cystatin-SA-III, Salivary acidic protein 1
All UniProt accessions (1): P01036
UniProt curated annotations — full annotation on UniProt →
Function. This protein strongly inhibits papain and ficin, partially inhibits stem bromelain and bovine cathepsin C, but does not inhibit porcine cathepsin B or clostripain. Papain is inhibited non-competitively.
Subcellular location. Secreted.
Tissue specificity. Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in saliva, tears, urine and seminal fluid.
Post-translational modifications. Phosphorylated at both its N- and C-terminal regions.
Similarity. Belongs to the cystatin family.
RefSeq proteins (1): NP_001890* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000010 | Cystatin_dom | Domain |
| IPR018073 | Prot_inh_cystat_CS | Conserved_site |
| IPR046350 | Cystatin_sf | Homologous_superfamily |
Pfam: PF00031
UniProt features (11 total): modified residue 2, disulfide bond 2, sequence variant 2, signal peptide 1, chain 1, sequence conflict 1, short sequence motif 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P01036-F1 | 90.01 | 0.74 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 32 (reactive site)
Post-translational modifications (2): 21, 23
Disulfide bonds (2): 94–104, 118–138
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 53 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, DITTMER_PTHLH_TARGETS_UP, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, VETTER_TARGETS_OF_PRKCA_AND_ETS1_DN, GOBP_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE, GOBP_SENSORY_PERCEPTION_OF_TASTE, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_REGULATION_OF_PROTEOLYSIS, VECCHI_GASTRIC_CANCER_ADVANCED_VS_EARLY_UP, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, chr20p11, GOMF_ENZYME_INHIBITOR_ACTIVITY
GO Biological Process (2): detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580), negative regulation of proteolysis (GO:0045861)
GO Molecular Function (3): cysteine-type endopeptidase inhibitor activity (GO:0004869), protein binding (GO:0005515), peptidase inhibitor activity (GO:0030414)
GO Cellular Component (5): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), vesicle (GO:0031982), extracellular exosome (GO:0070062), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| detection of chemical stimulus involved in sensory perception of taste | 1 |
| sensory perception of bitter taste | 1 |
| proteolysis | 1 |
| regulation of proteolysis | 1 |
| negative regulation of protein metabolic process | 1 |
| cysteine-type endopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| binding | 1 |
| enzyme inhibitor activity | 1 |
| peptidase activity | 1 |
| peptidase regulator activity | 1 |
| intracellular anatomical structure | 1 |
| membrane-bounded organelle | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
767 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CST4 | LCN1 | P31025 | 891 |
| CST4 | CTSS | P25774 | 881 |
| CST4 | MUC5B | Q9HC84 | 842 |
| CST4 | CTSB | P07858 | 783 |
| CST4 | STATH | P02808 | 773 |
| CST4 | AMY1B | P04745 | 762 |
| CST4 | HTN1 | P15515 | 737 |
| CST4 | MUC7 | Q8TAX7 | 724 |
| CST4 | CSTB | P04080 | 712 |
| CST4 | PIP | P12273 | 682 |
| CST4 | CA6 | P23280 | 681 |
| CST4 | CSTA | P01040 | 677 |
| CST4 | AZGP1 | P25311 | 673 |
| CST4 | AMY2B | P19961 | 640 |
| CST4 | AMY2A | P04746 | 639 |
IntAct
119 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNAPC1 | SNAPC5 | psi-mi:“MI:0914”(association) | 0.740 |
| TADA3 | TADA2A | psi-mi:“MI:0914”(association) | 0.740 |
| COMMD1 | VPS26C | psi-mi:“MI:0914”(association) | 0.730 |
| UQCRQ | COX7A2L | psi-mi:“MI:0914”(association) | 0.640 |
| ACTR3 | ARPC2 | psi-mi:“MI:0914”(association) | 0.640 |
| FKBP5 | IKBKB | psi-mi:“MI:0914”(association) | 0.640 |
| CST4 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FTH1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| FRMD1 | A2ML1 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX31 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| CST1 | CTSV | psi-mi:“MI:0914”(association) | 0.530 |
| HBM | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.530 |
| B3GALNT1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| RHOBTB1 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| TSFM | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| UCP2 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| GTF2B | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| PLEKHG6 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF491 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| UBTD2 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| GKN1 | CST4 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPF | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| KIR2DS2 | RHOBTB3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (134): CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS), CST4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0K0IP23, A0A1S3PBB7, B2Z450, E3P6N3, E3P6N4, E3P6N5, E3P6N6, E3P6N7, E3P6N8, E3P6N9, E3P6P0, E3P6P1, E3P6P2, E3P6P3, E3P6P4, J3RYX9, J3SE80, O60676, O88969, O97862, P01036, P01037, P01038, P01048, P08932, P08935, P09228, P19313, P28325, P32766, P33046, P35481, P49928, P49929, P49930, P54229, P54230, P81714, Q15828, Q2XXN5
Diamond homologs: B1P1J3, E3P6N3, E3P6N4, E3P6N5, E3P6N6, E3P6N7, E3P6N8, E3P6N9, E3P6P0, E3P6P1, E3P6P2, E3P6P3, E3P6P4, J3RYX9, J3SE80, O19092, O19093, O97862, P01034, P01035, P01036, P01037, P01038, P08935, P09228, P0DXA0, P14841, P19313, P21460, P28325, P31726, P35481, P81061, P81714, P90698, Q10993, Q15828, Q2XXN5, Q41916, Q6QZV5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 6 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
429 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:23685978:C:CC | acceptor_gain | 1.0000 |
| 20:23685980:G:C | acceptor_gain | 1.0000 |
| 20:23688788:T:C | donor_gain | 1.0000 |
| 20:23685973:TGTTT:T | acceptor_gain | 0.9900 |
| 20:23685975:TTT:T | acceptor_gain | 0.9900 |
| 20:23685976:TT:T | acceptor_gain | 0.9900 |
| 20:23685977:TC:T | acceptor_loss | 0.9900 |
| 20:23685978:C:CG | acceptor_loss | 0.9900 |
| 20:23685979:T:A | acceptor_loss | 0.9900 |
| 20:23685980:G:GC | acceptor_gain | 0.9900 |
| 20:23687083:CGTA:C | donor_loss | 0.9900 |
| 20:23687084:GTACC:G | donor_loss | 0.9900 |
| 20:23687085:TACCT:T | donor_loss | 0.9900 |
| 20:23687086:A:T | donor_loss | 0.9900 |
| 20:23687087:CCT:C | donor_loss | 0.9900 |
| 20:23687087:CCTT:C | donor_gain | 0.9900 |
| 20:23687197:AAGGT:A | acceptor_gain | 0.9900 |
| 20:23687198:AGGT:A | acceptor_gain | 0.9900 |
| 20:23687199:GGT:G | acceptor_gain | 0.9900 |
| 20:23687199:GGTC:G | acceptor_loss | 0.9900 |
| 20:23687200:GT:G | acceptor_gain | 0.9900 |
| 20:23687201:TCTGC:T | acceptor_loss | 0.9900 |
| 20:23687202:C:CC | acceptor_gain | 0.9900 |
| 20:23687202:CTGCA:C | acceptor_loss | 0.9900 |
| 20:23687203:T:G | acceptor_loss | 0.9900 |
| 20:23687205:C:CT | acceptor_gain | 0.9900 |
| 20:23687207:C:CT | acceptor_gain | 0.9900 |
| 20:23687209:C:CT | acceptor_gain | 0.9900 |
| 20:23687210:A:T | acceptor_gain | 0.9900 |
| 20:23688737:CCCA:C | donor_loss | 0.9900 |
AlphaMissense
921 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:23685960:G:C | F120L | 0.961 |
| 20:23685960:G:T | F120L | 0.961 |
| 20:23685962:A:G | F120L | 0.961 |
| 20:23685961:A:C | F120C | 0.959 |
| 20:23688820:G:C | F50L | 0.959 |
| 20:23688820:G:T | F50L | 0.959 |
| 20:23688822:A:G | F50L | 0.959 |
| 20:23685939:C:A | W127C | 0.951 |
| 20:23685939:C:G | W127C | 0.951 |
| 20:23685967:C:G | C118S | 0.950 |
| 20:23685968:A:T | C118S | 0.950 |
| 20:23687149:C:G | C94S | 0.940 |
| 20:23687150:A:T | C94S | 0.940 |
| 20:23687113:A:C | F106C | 0.939 |
| 20:23688818:G:T | A51D | 0.933 |
| 20:23687155:G:A | T92I | 0.931 |
| 20:23685907:C:G | C138S | 0.929 |
| 20:23685908:A:T | C138S | 0.929 |
| 20:23687112:G:C | F106L | 0.912 |
| 20:23687112:G:T | F106L | 0.912 |
| 20:23687114:A:G | F106L | 0.912 |
| 20:23687150:A:G | C94R | 0.912 |
| 20:23688802:G:C | N56K | 0.908 |
| 20:23688802:G:T | N56K | 0.908 |
| 20:23687149:C:T | C94Y | 0.904 |
| 20:23688821:A:C | F50C | 0.904 |
| 20:23688803:T:A | N56I | 0.898 |
| 20:23687119:C:G | C104S | 0.895 |
| 20:23687120:A:T | C104S | 0.895 |
| 20:23685968:A:G | C118R | 0.893 |
dbSNP variants (sampled 300 via entrez): RS1000247380 (20:23687336 C>A,T), RS1001248815 (20:23686615 C>A,T), RS1001314195 (20:23686497 C>A,T), RS1001399541 (20:23690693 T>A,G), RS1001870637 (20:23690537 T>G), RS1002246523 (20:23685818 C>A,T), RS1002318535 (20:23685660 G>C,T), RS1002806742 (20:23689807 T>A), RS1003883641 (20:23688692 C>G,T), RS1004774710 (20:23686087 C>A,G), RS1005371813 (20:23685280 G>A,C), RS1005478482 (20:23689045 C>T), RS1005857196 (20:23685146 G>GTC), RS1005888518 (20:23687957 G>C), RS1006486553 (20:23688210 C>T)
Disease associations
OMIM: gene MIM:123857 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000649_20 | Chronic kidney disease | 2.000000e-138 |
| GCST002406_2 | Plasma cystastin c levels in acute coronary syndrome | 4.000000e-07 |
| GCST006585_2644 | Blood protein levels | 2.000000e-31 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004617 | cystatin C measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Valproic Acid | increases methylation, affects cotreatment, increases expression | 2 |
| potassium persulfate | increases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Azacitidine | increases expression | 1 |
| Camptothecin | increases expression | 1 |
| Coal | increases abundance, increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Progesterone | affects cotreatment, decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
Clinical trials (associated diseases)
75 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute coronary syndrome