MARVELD3
gene geneOn this page
Summary
MARVELD3 (MARVEL domain containing 3, HGNC:30525) is a protein-coding gene on chromosome 16q22.2, encoding MARVEL domain-containing protein 3 (Q96A59). As a component of tight junctions, plays a role in paracellular ion conductivity.
Enables mitogen-activated protein kinase kinase kinase binding activity. Involved in bicellular tight junction assembly. Acts upstream of or within several processes, including negative regulation of JNK cascade; negative regulation of epithelial cell migration; and protein localization to cell junction. Located in bicellular tight junction and cytoplasmic vesicle.
Source: NCBI Gene 91862 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_052858
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30525 |
| Approved symbol | MARVELD3 |
| Name | MARVEL domain containing 3 |
| Location | 16q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000140832 |
| Ensembl biotype | protein_coding |
| OMIM | 614094 |
| Entrez | 91862 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000268485, ENST00000299952, ENST00000561682, ENST00000565261, ENST00000567566
RefSeq mRNA: 3 — MANE Select: NM_052858
NM_001017967, NM_001271329, NM_052858
CCDS: CCDS10904, CCDS32478, CCDS59270
Canonical transcript exons
ENST00000268485 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001200668 | 71634193 | 71636465 |
| ENSE00001843514 | 71626184 | 71626696 |
| ENSE00003635682 | 71629367 | 71629494 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 94.94.
FANTOM5 (CAGE): breadth broad, TPM avg 3.7928 / max 103.5570, expressed in 482 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154925 | 2.9475 | 461 |
| 154924 | 0.6167 | 330 |
| 154926 | 0.2286 | 152 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 94.94 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.84 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.66 | silver quality |
| jejunal mucosa | UBERON:0000399 | 90.72 | gold quality |
| duodenum | UBERON:0002114 | 88.52 | gold quality |
| kidney epithelium | UBERON:0004819 | 88.15 | silver quality |
| rectum | UBERON:0001052 | 86.78 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 86.13 | silver quality |
| colonic mucosa | UBERON:0000317 | 85.75 | gold quality |
| body of pancreas | UBERON:0001150 | 84.50 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 84.47 | gold quality |
| pancreas | UBERON:0001264 | 83.29 | gold quality |
| parotid gland | UBERON:0001831 | 82.46 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.42 | gold quality |
| transverse colon | UBERON:0001157 | 82.34 | gold quality |
| small intestine | UBERON:0002108 | 82.25 | gold quality |
| amniotic fluid | UBERON:0000173 | 81.27 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 79.55 | gold quality |
| endothelial cell | CL:0000115 | 79.45 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.18 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 78.83 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 78.72 | gold quality |
| minor salivary gland | UBERON:0001830 | 78.48 | gold quality |
| jejunum | UBERON:0002115 | 78.22 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 78.01 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 77.50 | silver quality |
| kidney | UBERON:0002113 | 77.04 | gold quality |
| mouth mucosa | UBERON:0003729 | 76.96 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.05 |
| E-MTAB-6386 | no | 4.74 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
53 targeting MARVELD3, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-5004-3P | 99.54 | 68.27 | 1371 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-3911 | 99.38 | 66.95 | 1087 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-155-5P | 99.35 | 70.16 | 1509 |
| HSA-MIR-4777-5P | 99.33 | 67.53 | 1148 |
Literature-anchored findings (GeneRIF, showing 6)
- MarvelD3 co-localises with occludin at tight junctions in intestinal and corneal epithelial cells. (PMID:20028514)
- marvelD3, occludin, and tricellulin define the tight junction-associated MARVEL protein family (PMID:20164257)
- MarvelD3 is transcriptionally downregulated in Snail-induced epithelial-mesenchymal transition during the progression for the pancreatic cancer. (PMID:21763689)
- MarvelD3 couples tight junctions to the MEKK1-JNK pathway to regulate cell behavior and survival. (PMID:24567356)
- Role of tight junction-associated MARVEL protein marvelD3 in migration and epithelial-mesenchymal transition of hepatocellular carcinoma. (PMID:34338154)
- MARVELD3 inhibits the epithelial-mesenchymal transition and cell migration by suppressing the Wnt/beta-catenin signaling pathway in non-small cell lung cancer cells. (PMID:36924014)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | marveld3 | ENSDARG00000099654 |
| mus_musculus | Marveld3 | ENSMUSG00000001672 |
| rattus_norvegicus | Marveld3 | ENSRNOG00000016291 |
Paralogs (2): PQBP1 (ENSG00000102103), CACTIN (ENSG00000105298)
Protein
Protein identifiers
MARVEL domain-containing protein 3 — Q96A59 (reviewed: Q96A59)
All UniProt accessions (2): Q96A59, J3KSM2
UniProt curated annotations — full annotation on UniProt →
Function. As a component of tight junctions, plays a role in paracellular ion conductivity.
Subcellular location. Membrane. Cell junction. Tight junction.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96A59-1 | 1 | yes |
| Q96A59-2 | 2 | |
| Q96A59-3 | 3 |
RefSeq proteins (3): NP_001017967, NP_001258258, NP_443090* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008253 | Marvel | Domain |
| IPR053077 | MARVEL_domain_protein_3 | Family |
UniProt features (20 total): topological domain 5, transmembrane region 4, compositionally biased region 3, splice variant 3, chain 1, domain 1, region of interest 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A59-F1 | 65.52 | 0.21 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 112 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_PROLIFERATION, chr16q22, GOZGIT_ESR1_TARGETS_DN, GOBP_APICAL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_AMEBOIDAL_TYPE_CELL_MIGRATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, GOBP_TISSUE_MIGRATION
GO Biological Process (7): response to osmotic stress (GO:0006970), negative regulation of epithelial cell migration (GO:0010633), cell-cell junction organization (GO:0045216), negative regulation of JNK cascade (GO:0046329), negative regulation of epithelial cell proliferation (GO:0050680), bicellular tight junction assembly (GO:0070830), protein localization to cell junction (GO:1902414)
GO Molecular Function (2): mitogen-activated protein kinase kinase kinase binding (GO:0031435), protein binding (GO:0005515)
GO Cellular Component (4): bicellular tight junction (GO:0005923), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to stress | 1 |
| response to abiotic stimulus | 1 |
| epithelial cell migration | 1 |
| regulation of epithelial cell migration | 1 |
| negative regulation of cell migration | 1 |
| negative regulation of multicellular organismal process | 1 |
| cell junction organization | 1 |
| JNK cascade | 1 |
| negative regulation of MAPK cascade | 1 |
| regulation of JNK cascade | 1 |
| negative regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 1 |
| apical junction assembly | 1 |
| tight junction assembly | 1 |
| intracellular protein localization | 1 |
| protein kinase binding | 1 |
| binding | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLCO1B1 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| SLCO1B3 | SNAP23 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): MARVELD3 (Affinity Capture-RNA), MARVELD3 (Affinity Capture-MS), MARVELD3 (Affinity Capture-MS)
ESM2 similar proteins: A4IIV4, A8MUP6, D3Z7H4, D3ZK93, O75204, P70259, P82352, Q08CE6, Q0IIE5, Q14714, Q2KHT4, Q2M2E3, Q2T9K0, Q3SZ72, Q3SZT1, Q3UUA0, Q497B3, Q498W5, Q49LS3, Q4V922, Q504G0, Q53RY4, Q5M962, Q5RCD5, Q5VW38, Q5XGU1, Q6AXT9, Q6AYL2, Q6P5F7, Q6PCP7, Q6UX68, Q6UXU4, Q7TQI0, Q80ZU9, Q8BGP5, Q8K177, Q8K451, Q8R1W2, Q8R2K4, Q8VHW3
Diamond homologs: Q96A59, Q9D956
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
491 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:71629491:AGAG:A | donor_loss | 1.0000 |
| 16:71629493:AGGT:A | donor_loss | 1.0000 |
| 16:71629494:GGTG:G | donor_loss | 1.0000 |
| 16:71629495:GT:G | donor_loss | 1.0000 |
| 16:71629496:T:G | donor_loss | 1.0000 |
| 16:71626358:G:GT | donor_gain | 0.9900 |
| 16:71626664:G:GT | donor_gain | 0.9900 |
| 16:71626694:AAGG:A | donor_loss | 0.9900 |
| 16:71626696:GGTGA:G | donor_loss | 0.9900 |
| 16:71626697:G:C | donor_loss | 0.9900 |
| 16:71626698:T:A | donor_loss | 0.9900 |
| 16:71629361:TTATA:T | acceptor_loss | 0.9900 |
| 16:71629362:TATA:T | acceptor_loss | 0.9900 |
| 16:71629364:TAGT:T | acceptor_loss | 0.9900 |
| 16:71629365:A:AG | acceptor_gain | 0.9900 |
| 16:71629365:A:G | acceptor_loss | 0.9900 |
| 16:71629365:AGT:A | acceptor_gain | 0.9900 |
| 16:71629366:G:A | acceptor_loss | 0.9900 |
| 16:71629366:G:GA | acceptor_gain | 0.9900 |
| 16:71629366:GT:G | acceptor_gain | 0.9900 |
| 16:71629366:GTG:G | acceptor_gain | 0.9900 |
| 16:71629366:GTGA:G | acceptor_gain | 0.9900 |
| 16:71629366:GTGAA:G | acceptor_gain | 0.9900 |
| 16:71629492:GAG:G | donor_gain | 0.9900 |
| 16:71629358:T:TA | acceptor_gain | 0.9800 |
| 16:71626420:A:T | donor_gain | 0.9700 |
| 16:71629360:GTTAT:G | acceptor_loss | 0.9700 |
| 16:71629497:G:GT | donor_loss | 0.9700 |
| 16:71626665:A:T | donor_gain | 0.9600 |
| 16:71626668:G:GT | donor_gain | 0.9600 |
AlphaMissense
2570 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:71634651:T:C | F352L | 0.993 |
| 16:71634653:C:A | F352L | 0.993 |
| 16:71634653:C:G | F352L | 0.993 |
| 16:71634373:A:T | D259V | 0.990 |
| 16:71634617:G:C | R340S | 0.989 |
| 16:71634617:G:T | R340S | 0.989 |
| 16:71634337:T:G | F247C | 0.988 |
| 16:71634372:G:C | D259H | 0.988 |
| 16:71634381:T:C | F262L | 0.986 |
| 16:71634383:C:A | F262L | 0.986 |
| 16:71634383:C:G | F262L | 0.986 |
| 16:71634606:T:A | C337S | 0.986 |
| 16:71634607:G:C | C337S | 0.986 |
| 16:71634382:T:C | F262S | 0.984 |
| 16:71634337:T:C | F247S | 0.983 |
| 16:71634652:T:G | F352C | 0.983 |
| 16:71634426:A:C | S277R | 0.982 |
| 16:71634428:T:A | S277R | 0.982 |
| 16:71634428:T:G | S277R | 0.982 |
| 16:71634627:T:G | Y344D | 0.982 |
| 16:71634372:G:T | D259Y | 0.981 |
| 16:71634374:T:A | D259E | 0.981 |
| 16:71634374:T:G | D259E | 0.981 |
| 16:71634382:T:G | F262C | 0.981 |
| 16:71634607:G:A | C337Y | 0.981 |
| 16:71634361:C:A | A255D | 0.980 |
| 16:71634616:G:C | R340T | 0.980 |
| 16:71634395:G:C | K266N | 0.979 |
| 16:71634395:G:T | K266N | 0.979 |
| 16:71634243:A:C | S216R | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000264190 (16:71628985 A>C), RS1000632426 (16:71633124 A>G), RS1000761183 (16:71629354 T>C), RS1000830920 (16:71639682 A>C,G,T), RS1000848139 (16:71624857 C>A), RS1000878825 (16:71628015 G>C), RS1001179834 (16:71639957 C>T), RS1001460172 (16:71636423 G>A), RS1001847719 (16:71636845 C>T), RS1001866218 (16:71641306 C>T), RS1001920620 (16:71631996 A>C), RS1001932592 (16:71629819 G>A,C), RS1002036028 (16:71635172 CA>C,CAA), RS1002289305 (16:71626550 G>A,C), RS1002349257 (16:71631767 T>C)
Disease associations
OMIM: gene MIM:614094 | disease phenotypes: MIM:300755
GenCC curated gene-disease
Mondo (1): immunodeficiency disease (MONDO:0021094)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001637_4 | Malaria | 2.000000e-06 |
| GCST003262_260 | Post bronchodilator FEV1 | 3.000000e-06 |
| GCST007269_158 | Pulse pressure | 2.000000e-18 |
| GCST007565_35 | Morning person | 1.000000e-15 |
| GCST007576_405 | Chronotype | 1.000000e-15 |
| GCST008058_208 | Estimated glomerular filtration rate | 7.000000e-13 |
| GCST008059_185 | Estimated glomerular filtration rate | 2.000000e-12 |
| GCST010002_114 | Refractive error | 4.000000e-10 |
| GCST010245_107 | LDL cholesterol levels | 1.000000e-14 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004314 | forced expiratory volume |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation, affects cotreatment, increases expression | 5 |
| sodium arsenite | decreases expression, increases abundance, increases expression, increases methylation | 4 |
| Arsenic | affects methylation, increases abundance, increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| sodium arsenate | increases abundance, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| perfluorooctane sulfonic acid | 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 | decreases expression, affects cotreatment | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Camptothecin | increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Silicon Dioxide | decreases expression | 1 |
Clinical trials (associated diseases)
247 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00001542 | PHASE4 | COMPLETED | Fluconazole Prophylaxis of Thrush in AIDS |
| NCT00144157 | PHASE4 | COMPLETED | Open Label Study of NVP+CBV Treatment in Women Who Have Received sdNVP for the pMTCT of HIV |
| NCT00162643 | PHASE4 | UNKNOWN | PI Vs. NNRTI Based Therapy for HIV Advanced Disease |
| NCT00273988 | PHASE4 | COMPLETED | Pharmacokinetic Study of Interaction Between Nevirapine and Methadone in HIV-1 Infected, Opioid-dependent Adults |
| NCT00981318 | PHASE4 | TERMINATED | Pilot Assessment of Lopinavir/Ritonavir and Maraviroc |
| NCT01086878 | PHASE4 | COMPLETED | Safety of Cotrimoxazole in HIV- and HAART-exposed Infants |
| NCT01090102 | PHASE4 | COMPLETED | Mesalamine to Reduce T Cell Activation in HIV Infection |
| NCT01147042 | PHASE4 | TERMINATED | Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease |
| NCT01230580 | PHASE4 | UNKNOWN | Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT) |
| NCT01465958 | PHASE4 | COMPLETED | Pharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency |
| NCT02274662 | PHASE4 | COMPLETED | Expanded Access Protocol Thymus Transplantation |
| NCT02348177 | PHASE4 | COMPLETED | Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB |
| NCT02396979 | PHASE4 | COMPLETED | Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia |
| NCT02490956 | PHASE4 | UNKNOWN | Diagnostic Immunization With Rabies Vaccine in Patients With PID |
| NCT02503293 | PHASE4 | COMPLETED | A Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push |
| NCT02881437 | PHASE4 | COMPLETED | IgG Level in Primary Immunodeficiency Switching From Standard SCIG to Every Other Week HyQvia |
| NCT03033745 | PHASE4 | COMPLETED | Safety and Tolerability of Higher Infusion Parameters of IgPro20 (Hizentra) in Subjects With Primary Immunodeficiency (PID) |
| NCT03677557 | PHASE4 | UNKNOWN | Safety, Tolerability, Patient Satisfaction and Cost of 16.5% Subcutaneous Immunoglobulin (Cutaquig®) Treatment |
| NCT04192487 | PHASE4 | COMPLETED | Effects of Crofelemer on the Gut Microbiome in Healthy Volunteers and in HIV+ Patients With Non-Infectious Diarrhea |
| NCT04566692 | PHASE4 | COMPLETED | A Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency |
| NCT05493969 | PHASE4 | NOT_YET_RECRUITING | Efficacy and Tolerability of DTG Plus 3TC in HIV Infected Adults With Virologically Suppression and TDF Toxicity |
| NCT06576024 | PHASE4 | COMPLETED | Immunogenicity and Safety of Inactivated Hepatitis A Vaccine in HIV-infected People |
| NCT06634641 | PHASE4 | RECRUITING | Clozapine-related Immunodeficiency in Parkinsons Disease |
| NCT07076446 | PHASE4 | ACTIVE_NOT_RECRUITING | An Open-label, Multicenter Study to Assess the Pharmacokinetics (PK), Safety, and Tolerability of Subcutaneous IgPro20 in Immunoglobulin (IG) Treatment-naïve Participants With Primary Immunodeficiency (PID) |
| NCT00000118 | PHASE3 | COMPLETED | Ganciclovir Implant Study for Cytomegalovirus Retinitis |
| NCT00000134 | PHASE3 | COMPLETED | Studies of the Ocular Complications of AIDS (SOCA)–Cytomegalovirus Retinitis Retreatment Trial (CRRT) |
| NCT00000590 | PHASE3 | COMPLETED | Anti-HIV Immunoglobulin (HIVIG) in Prevention of Maternal-Fetal HIV Transmission (Pediatric ACTG Protocol 185) |
| NCT00001267 | PHASE3 | COMPLETED | A Randomized Pilot Study for the Treatment of AIDS or AIDS Related Complex With an Alternating or Simultaneous Combination Regimen of AZT and 2’,3’-Dideoxyinosine |
| NCT00001646 | PHASE3 | COMPLETED | Voriconazole vs. Amphotericin B in the Treatment of Invasive Aspergillosis |
| NCT00144183 | PHASE3 | COMPLETED | A Study of Single Dose Nevirapine (NVP) Combined With Combivir® for the Prevention of Mother to Child Transmission (pMTCT) - Treatment Options Preservation Study (TOPS) |
| NCT00243568 | PHASE3 | WITHDRAWN | Vicriviroc, a CCR5 Inhibitor, Added to an Optimized Antiretroviral Therapy for Previously Treated HIV (VICTOR-E2) (Study P04285 |
| NCT00278954 | PHASE3 | COMPLETED | Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. |
| NCT00474370 | PHASE3 | COMPLETED | Vicriviroc in HIV-Treatment Experienced Subjects (Study P04889AM8)(COMPLETED) |
| NCT00478231 | PHASE3 | COMPLETED | Multicenter, Safety Study Of Maraviroc |
| NCT00523211 | PHASE3 | COMPLETED | Vicriviroc in HIV-Treatment Experienced Subjects (Study P04405AM5) |
| NCT00698334 | PHASE3 | COMPLETED | Efficacy of Thrice Weekly Directly Observed Treatment, Short-course (DOTS) in HIV-associated Tuberculosis |
| NCT00966160 | PHASE3 | COMPLETED | CD4 Cell Recovery in HIV-1 Patients Comparing 2 Treatment Regimes |
| NCT01363011 | PHASE3 | COMPLETED | Cobicistat-containing Highly Active Antiretroviral Regimens in HIV-1 Infected Patients With Mild to Moderate Renal Impairment |
| NCT01440569 | PHASE3 | COMPLETED | Safety and Efficacy of Cobicistat-boosted Darunavir in HIV Infected Adults |
| NCT01475838 | PHASE3 | COMPLETED | Study to Evaluate Switching From Regimens Consisting of a Ritonavir-boosted Protease Inhibitor Plus Emtricitabine/Tenofovir Fixed-Dose Combination to the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir DF Single-Tablet Regimen in Virologically Suppressed, HIV-1 Infected Patients |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): immunodeficiency disease