ODF4
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Also known as OPPO1CT136
Summary
ODF4 (outer dense fiber of sperm tails 4, HGNC:19056) is a protein-coding gene on chromosome 17p13.1, encoding Outer dense fiber protein 4 (Q2M2E3). Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton.
This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 146852 — RefSeq curated summary.
At a glance
- Gene–disease (curated): male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_153007
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19056 |
| Approved symbol | ODF4 |
| Name | outer dense fiber of sperm tails 4 |
| Location | 17p13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OPPO1, CT136 |
| Ensembl gene | ENSG00000184650 |
| Ensembl biotype | protein_coding |
| OMIM | 610097 |
| Entrez | 146852 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 2 protein_coding, 2 nonsense_mediated_decay
ENST00000328248, ENST00000584943, ENST00000636237, ENST00000637186
RefSeq mRNA: 2 — MANE Select: NM_153007
NM_001319953, NM_153007
CCDS: CCDS11140, CCDS82069
Canonical transcript exons
ENST00000328248 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001290180 | 8345668 | 8346046 |
| ENSE00001307923 | 8345343 | 8345477 |
| ENSE00001312583 | 8339840 | 8340505 |
Expression profiles
Bgee: expression breadth broad, 41 present calls, max score 82.18.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0110 / max 9.9239, expressed in 3 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159488 | 0.0110 | 3 |
Top tissues by expression
186 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 82.18 | gold quality |
| sperm | CL:0000019 | 82.14 | gold quality |
| right testis | UBERON:0004534 | 81.22 | gold quality |
| testis | UBERON:0000473 | 80.28 | gold quality |
| superficial temporal artery | UBERON:0001614 | 70.84 | gold quality |
| adult organism | UBERON:0007023 | 70.71 | gold quality |
| parotid gland | UBERON:0001831 | 68.93 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 67.75 | gold quality |
| cartilage tissue | UBERON:0002418 | 67.10 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 66.86 | gold quality |
| secondary oocyte | CL:0000655 | 66.58 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 66.41 | gold quality |
| gingival epithelium | UBERON:0001949 | 64.86 | gold quality |
| vena cava | UBERON:0004087 | 62.85 | gold quality |
| gingiva | UBERON:0001828 | 62.03 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 61.92 | gold quality |
| biceps brachii | UBERON:0001507 | 61.66 | gold quality |
| cardia of stomach | UBERON:0001162 | 61.34 | gold quality |
| deltoid | UBERON:0001476 | 61.13 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 61.04 | gold quality |
| amniotic fluid | UBERON:0000173 | 60.49 | gold quality |
| oocyte | CL:0000023 | 60.40 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 60.23 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 60.12 | gold quality |
| skin of hip | UBERON:0001554 | 60.10 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 59.92 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 59.84 | gold quality |
| saphenous vein | UBERON:0007318 | 59.66 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 59.55 | gold quality |
| synovial joint | UBERON:0002217 | 59.49 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting ODF4, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-6749-3P | 99.00 | 65.73 | 1443 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-5006-5P | 98.79 | 66.92 | 1246 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-4520-3P | 98.75 | 66.55 | 963 |
| HSA-MIR-5197-3P | 98.71 | 67.05 | 1905 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-6878-5P | 98.49 | 67.91 | 2142 |
| HSA-MIR-6841-3P | 98.08 | 66.54 | 604 |
| HSA-MIR-1245B-3P | 98.01 | 68.91 | 1387 |
| HSA-MIR-3085-5P | 97.72 | 65.43 | 544 |
| HSA-MIR-4689 | 96.97 | 65.79 | 1209 |
| HSA-MIR-6858-5P | 96.05 | 64.59 | 1020 |
Literature-anchored findings (GeneRIF, showing 4)
- Genomic structure has evolved independently of mouse, whereas functional structure is well-conserved (PMID:12728016)
- ODF4 is a cancer-testis (CT) gene useful for detection of CML. It was expressed in 30% of CML patients but not in any of the healthy donors. (PMID:22588436)
- Two alternative splice variants of ODF3 and ODF4, were found. (PMID:23096689)
- High ODF4 expression is associated with Transitional Cell Carcinoma of Bladder. (PMID:29058301)
Cross-species orthologs
0 orthologs
Protein
Protein identifiers
Outer dense fiber protein 4 — Q2M2E3 (reviewed: Q2M2E3)
Alternative names: Outer dense fiber of sperm tails protein 4, Testis-specific protein oppo 1
All UniProt accessions (4): Q2M2E3, A0A1B0GUE2, A0A1B0GUG5, C3TX97
UniProt curated annotations — full annotation on UniProt →
Function. Component of the outer dense fibers (ODF) of spermatozoa which could be involved in sperm tail structure, sperm movement and general organization of cellular cytoskeleton.
Subcellular location. Membrane.
Tissue specificity. Expressed in testis and sperm; especially localized to sperm tail (at protein level).
RefSeq proteins (2): NP_001306882, NP_694552* (*=MANE)
Domains & families (InterPro)
UniProt features (10 total): transmembrane region 3, sequence variant 3, chain 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2M2E3-F1 | 55.59 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 64
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 40 (showing top):
GOBP_MALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, MYB_Q5_01, MYB_Q6, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_UP, ZIM3_TARGET_GENES, ZNF22_TARGET_GENES, ZNF362_TARGET_GENES, MIR1245B_3P, MIR106A_3P, MIR502_5P, MIR6841_3P, GSE17721_LPS_VS_GARDIQUIMOD_1H_BMDC_DN, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_1H_ACT_CD4_TCELL_DN, GSE20366_TREG_VS_TCONV_UP
GO Biological Process (2): spermatogenesis (GO:0007283), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
450 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ODF4 | CIMAP1A | Q96PU9 | 833 |
| ODF4 | ODF1 | Q14990 | 741 |
| ODF4 | SPATA19 | Q7Z5L4 | 583 |
| ODF4 | TSGA10 | Q9BZW7 | 553 |
| ODF4 | RHOXF2 | Q9BQY4 | 542 |
| ODF4 | TEX38 | Q6PEX7 | 485 |
| ODF4 | PKDREJ | Q9NTG1 | 477 |
| ODF4 | ACTL7A | Q9Y615 | 476 |
| ODF4 | CBY2 | Q8NA61 | 468 |
| ODF4 | OAZ3 | Q9UMX2 | 468 |
| ODF4 | CIMAP1B | A8MYP8 | 461 |
| ODF4 | CABYR | O75952 | 459 |
| ODF4 | TSSK6 | Q9BXA6 | 450 |
| ODF4 | CGB2 | Q6NT52 | 446 |
| ODF4 | SPEM1 | Q8N4L4 | 418 |
| ODF4 | FREY1 | C9JXX5 | 418 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TMBIM6 | ODF4 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SACM1L | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EBP | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TUSC5 | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | MS4A13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | LAPTM4B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CD9 | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | YIPF6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CACNG1 | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | SLC25A46 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | SLC38A7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DEFB103A | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | CNIH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | RUSF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | NINJ2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | SACM1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | TOMM6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | MARCHF5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | TMEM239 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDIPT | ODF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ODF4 | CLPTM1 | psi-mi:“MI:0914”(association) | 0.350 |
| ODF4 | ATP12A | psi-mi:“MI:0914”(association) | 0.350 |
| ODF4 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TUSC5 | ODF4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): ATP12A (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), TMBIM6 (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid), ODF4 (Two-hybrid)
ESM2 similar proteins: A0JPH4, A4IIV4, A6NGA9, A8MUP6, D3Z7H4, D3ZK93, O42282, O60478, O75204, O95859, P0DP42, P38551, P58418, Q08CE6, Q0II41, Q11085, Q29RH7, Q2KHT4, Q2M2E3, Q32KQ5, Q32LT7, Q3SZT1, Q4V922, Q504G0, Q569A2, Q5CZV0, Q5FWC3, Q5M962, Q5R8B5, Q5RCD5, Q5VW38, Q5XGU1, Q5ZIF5, Q6AXT9, Q6AYL2, Q6GV27, Q6GV28, Q6UXU4, Q7TQI0, Q8BGP5
Diamond homologs: Q0II41, Q2M2E3, Q6AXT9, Q8VI88
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
718 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:8345341:A:AG | acceptor_gain | 1.0000 |
| 17:8345342:G:GG | acceptor_gain | 1.0000 |
| 17:8345060:A:T | donor_gain | 0.9900 |
| 17:8340128:A:T | donor_gain | 0.9800 |
| 17:8344652:C:G | donor_gain | 0.9800 |
| 17:8345667:GC:G | acceptor_gain | 0.9800 |
| 17:8340132:G:GT | donor_gain | 0.9700 |
| 17:8345342:GTC:G | acceptor_gain | 0.9700 |
| 17:8345367:T:G | acceptor_gain | 0.9700 |
| 17:8345666:A:AG | acceptor_gain | 0.9700 |
| 17:8345667:G:GG | acceptor_gain | 0.9700 |
| 17:8345059:G:GT | donor_gain | 0.9600 |
| 17:8345666:AGC:A | acceptor_gain | 0.9500 |
| 17:8345667:GCG:G | acceptor_gain | 0.9500 |
| 17:8345040:AAG:A | donor_gain | 0.9400 |
| 17:8345342:GTCA:G | acceptor_gain | 0.9400 |
| 17:8345342:GTCAC:G | acceptor_gain | 0.9400 |
| 17:8345384:ATCT:A | acceptor_gain | 0.9400 |
| 17:8345668:C:CA | acceptor_gain | 0.9300 |
| 17:8339989:A:G | donor_gain | 0.9200 |
| 17:8340123:A:T | donor_gain | 0.9200 |
| 17:8340338:T:A | acceptor_gain | 0.9200 |
| 17:8344585:TTC:T | donor_gain | 0.9200 |
| 17:8345655:T:TA | acceptor_gain | 0.9200 |
| 17:8340127:G:GT | donor_gain | 0.9100 |
| 17:8344633:C:T | donor_gain | 0.9100 |
| 17:8345408:A:T | donor_gain | 0.9100 |
| 17:8345475:GCG:G | donor_gain | 0.9100 |
| 17:8344872:GGCA:G | acceptor_gain | 0.9000 |
| 17:8345342:GT:G | acceptor_gain | 0.9000 |
AlphaMissense
1704 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:8340313:A:C | S88R | 0.956 |
| 17:8340315:C:A | S88R | 0.956 |
| 17:8340315:C:G | S88R | 0.956 |
| 17:8345447:T:A | W187R | 0.952 |
| 17:8345447:T:C | W187R | 0.952 |
| 17:8340349:T:C | F100L | 0.919 |
| 17:8340351:C:A | F100L | 0.919 |
| 17:8340351:C:G | F100L | 0.919 |
| 17:8345432:A:C | S182R | 0.897 |
| 17:8345434:C:A | S182R | 0.897 |
| 17:8345434:C:G | S182R | 0.897 |
| 17:8345393:T:C | F169L | 0.896 |
| 17:8345395:C:A | F169L | 0.896 |
| 17:8345395:C:G | F169L | 0.896 |
| 17:8340361:T:A | W104R | 0.879 |
| 17:8340361:T:C | W104R | 0.879 |
| 17:8345387:T:A | W167R | 0.868 |
| 17:8345387:T:C | W167R | 0.868 |
| 17:8345372:T:C | F162L | 0.859 |
| 17:8345374:C:A | F162L | 0.859 |
| 17:8345374:C:G | F162L | 0.859 |
| 17:8340385:T:C | F112L | 0.857 |
| 17:8340387:C:A | F112L | 0.857 |
| 17:8340387:C:G | F112L | 0.857 |
| 17:8345445:G:A | G186D | 0.845 |
| 17:8345697:T:C | F207L | 0.842 |
| 17:8345699:C:A | F207L | 0.842 |
| 17:8345699:C:G | F207L | 0.842 |
| 17:8345383:C:A | N165K | 0.819 |
| 17:8345383:C:G | N165K | 0.819 |
dbSNP variants (sampled 300 via entrez): RS1000043834 (17:8339620 G>C), RS1000946475 (17:8341304 T>A,C,G), RS1000955481 (17:8343641 A>G), RS1001519921 (17:8339787 T>A,G), RS1001550566 (17:8342598 T>C), RS1001588082 (17:8346542 A>G), RS1001903894 (17:8338291 G>A), RS1002063699 (17:8342376 G>A), RS1002524547 (17:8341151 T>C), RS1002549333 (17:8338552 C>G,T), RS1002745527 (17:8341499 C>T), RS1002962036 (17:8345082 C>A,T), RS1003369877 (17:8339527 C>T), RS1004719110 (17:8338229 A>G), RS1005093587 (17:8343048 T>A)
Disease associations
OMIM: gene MIM:610097 | disease phenotypes: MIM:105650, MIM:127550
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| male infertility with azoospermia or oligozoospermia due to single gene mutation | Moderate | Autosomal recessive |
Mondo (3): Diamond-Blackfan anemia (MONDO:0015253), dyskeratosis congenita (MONDO:0015780), (MONDO:0018393)
Orphanet (2): Diamond-Blackfan anemia (Orphanet:124), Dyskeratosis congenita (Orphanet:1775)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005992_22 | Mean corpuscular hemoglobin concentration | 3.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004528 | mean corpuscular hemoglobin concentration |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D029503 | Anemia, Diamond-Blackfan | C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090 |
| D019871 | Dyskeratosis Congenita | C15.378.190.223.500.750; C16.131.831.150; C16.320.322.108; C16.320.850.235; C17.800.804.150; C17.800.827.235 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine | decreases expression | 1 |
| tebuconazole | decreases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation, increases methylation | 1 |
| Catechin | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
51 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00673608 | PHASE4 | COMPLETED | Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload |
| NCT00235391 | PHASE3 | COMPLETED | Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload |
| NCT00001962 | PHASE2 | TERMINATED | A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure |
| NCT00011505 | PHASE2 | COMPLETED | Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia |
| NCT00301834 | PHASE2 | COMPLETED | Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders |
| NCT00957931 | PHASE2 | COMPLETED | Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs |
| NCT01529827 | PHASE2 | COMPLETED | Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies |
| NCT02386267 | PHASE2 | UNKNOWN | L-leucine in Diamond Blackfan Anemia Patients |
| NCT02512679 | PHASE2 | TERMINATED | Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells |
| NCT03333486 | PHASE2 | TERMINATED | Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer |
| NCT04099966 | PHASE2 | RECRUITING | AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion |
| NCT04965597 | PHASE2 | COMPLETED | Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904) |
| NCT00004787 | PHASE2 | COMPLETED | Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes |
| NCT01659606 | PHASE2 | ACTIVE_NOT_RECRUITING | Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita |
| NCT03579875 | PHASE2 | RECRUITING | Alpha/Beta TCD HCT in Patients With Inherited BMF Disorders |
| NCT04232085 | PHASE2 | RECRUITING | Regenerative Medicine to Restore Hematopoiesis and Immune Function in Immunodeficiencies and Inherited Bone Marrow Failures |
| NCT04638517 | PHASE2 | TERMINATED | The TELO-SCOPE Study: Attenuating Telomere Attrition With Danazol. Is There Scope to Dramatically Improve Health Outcomes for Adults and Children With Pulmonary Fibrosis |
| NCT01586455 | PHASE1 | COMPLETED | Human Placental-Derived Stem Cell Transplantation |
| NCT01917708 | PHASE1 | COMPLETED | Bone Marrow Transplant With Abatacept for Non-Malignant Diseases |
| NCT06477614 | PHASE1 | RECRUITING | Anti-cancer DC Cell Vaccination to Treat Solid Tumors |
| NCT06817590 | PHASE1 | RECRUITING | Nucleoside Therapy in Patients With Telomere Biology Disorders |
| NCT00176852 | PHASE2/PHASE3 | COMPLETED | Stem Cell Transplant for Hemoglobinopathy |
| NCT00176878 | PHASE2/PHASE3 | COMPLETED | Stem Cell Transplant for Bone Marrow Failure Syndromes |
| NCT00305708 | PHASE1/PHASE2 | COMPLETED | Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission |
| NCT01362595 | PHASE1/PHASE2 | COMPLETED | Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia |
| NCT01419704 | PHASE1/PHASE2 | WITHDRAWN | Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies |
| NCT01464164 | PHASE1/PHASE2 | TERMINATED | Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia |
| NCT01966367 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation |
| NCT02065869 | PHASE1/PHASE2 | TERMINATED | Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant |
| NCT03513328 | PHASE1/PHASE2 | COMPLETED | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation |
| NCT03653338 | PHASE1/PHASE2 | RECRUITING | T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias |
| NCT03733249 | PHASE1/PHASE2 | TERMINATED | Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study |
| NCT03966053 | PHASE1/PHASE2 | TERMINATED | The Use of Trifluoperazine in Transfusion Dependent DBA |
| NCT00027274 | Not specified | RECRUITING | Cancer in Inherited Bone Marrow Failure Syndromes |
| NCT00244010 | Not specified | COMPLETED | Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias |
| NCT00290628 | Not specified | TERMINATED | Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer |
| NCT01114776 | Not specified | COMPLETED | Multi-Center Study of Iron Overload: Pilot Study |
| NCT01319851 | Not specified | TERMINATED | Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation |
| NCT01758042 | Not specified | COMPLETED | Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders |
| NCT01913548 | Not specified | COMPLETED | Multi-Center Study of Iron Overload: Survey Study (MCSIO) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Diamond-Blackfan anemia, dyskeratosis congenita