TERB1
gene geneOn this page
Also known as FLJ35894
Summary
TERB1 (telomere repeat binding bouquet formation protein 1, HGNC:26675) is a protein-coding gene on chromosome 16q22.1, encoding Telomere repeats-binding bouquet formation protein 1 (Q8NA31). Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis.
Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60.
Source: NCBI Gene 283847 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 21 total — 5 pathogenic
- Phenotypes (HPO): 11
- Druggable target: yes
- MANE Select transcript:
NM_001136505
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26675 |
| Approved symbol | TERB1 |
| Name | telomere repeat binding bouquet formation protein 1 |
| Location | 16q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ35894 |
| Ensembl gene | ENSG00000249961 |
| Ensembl biotype | protein_coding |
| OMIM | 617332 |
| Entrez | 283847 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000313294, ENST00000433154, ENST00000558713, ENST00000559050, ENST00000559403, ENST00000561333, ENST00000673664
RefSeq mRNA: 1 — MANE Select: NM_001136505
NM_001136505
Canonical transcript exons
ENST00000433154 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002230803 | 66768104 | 66768168 |
| ENSE00002556411 | 66801468 | 66801584 |
| ENSE00002606553 | 66800977 | 66801053 |
| ENSE00003480985 | 66788169 | 66788297 |
| ENSE00003495236 | 66777203 | 66777334 |
| ENSE00003496530 | 66759141 | 66759290 |
| ENSE00003523020 | 66767415 | 66767510 |
| ENSE00003544702 | 66796768 | 66796830 |
| ENSE00003562552 | 66772589 | 66772749 |
| ENSE00003573930 | 66785786 | 66785908 |
| ENSE00003589222 | 66778863 | 66779015 |
| ENSE00003607903 | 66775118 | 66775243 |
| ENSE00003631178 | 66786014 | 66786129 |
| ENSE00003635446 | 66790909 | 66791019 |
| ENSE00003649513 | 66769963 | 66770309 |
| ENSE00003656794 | 66790595 | 66790723 |
| ENSE00003674370 | 66758773 | 66758838 |
| ENSE00003690840 | 66786225 | 66786285 |
| ENSE00003896586 | 66754640 | 66755163 |
Expression profiles
Bgee: expression breadth ubiquitous, 141 present calls, max score 84.52.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0199 / max 19.3967, expressed in 3 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 157718 | 0.0199 | 3 |
Top tissues by expression
240 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 | 84.52 | gold quality |
| right testis | UBERON:0004534 | 81.15 | gold quality |
| left testis | UBERON:0004533 | 80.36 | gold quality |
| testis | UBERON:0000473 | 78.83 | gold quality |
| secondary oocyte | CL:0000655 | 75.54 | silver quality |
| sperm | CL:0000019 | 72.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 72.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 57.05 | gold quality |
| ectocervix | UBERON:0012249 | 52.25 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 52.07 | gold quality |
| adult organism | UBERON:0007023 | 51.38 | gold quality |
| tendon | UBERON:0000043 | 50.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 49.70 | silver quality |
| ventricular zone | UBERON:0003053 | 49.08 | gold quality |
| buccal mucosa cell | CL:0002336 | 48.87 | silver quality |
| descending thoracic aorta | UBERON:0002345 | 47.88 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 47.13 | gold quality |
| tibial nerve | UBERON:0001323 | 46.16 | gold quality |
| right lobe of liver | UBERON:0001114 | 44.89 | silver quality |
| cerebellar cortex | UBERON:0002129 | 44.71 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 44.69 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 44.68 | gold quality |
| uterine cervix | UBERON:0000002 | 44.48 | gold quality |
| right adrenal gland | UBERON:0001233 | 44.47 | gold quality |
| popliteal artery | UBERON:0002250 | 44.42 | gold quality |
| tibial artery | UBERON:0007610 | 44.33 | gold quality |
| cerebellum | UBERON:0002037 | 44.27 | silver quality |
| skin of leg | UBERON:0001511 | 44.22 | gold quality |
| skin of abdomen | UBERON:0001416 | 44.17 | gold quality |
| metanephros cortex | UBERON:0010533 | 44.17 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.70 |
| E-MTAB-5061 | no | 1.95 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 4)
- complementary structured illumination microscopy studies and biochemical findings reveal a telomere attachment mechanism in which MAJIN-TERB2-TERB1 recruits telomere-bound TRF1, which is then displaced during pachytene, allowing MAJIN-TERB2-TERB1 to bind telomeric DNA and form a mature attachment plate. (PMID:30559341)
- The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope (PMID:30718482)
- Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. (PMID:33211200)
- A report of two homozygous TERB1 protein-truncating variants in two unrelated women with primary infertility. (PMID:38277113)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | terb1 | ENSDARG00000058587 |
| mus_musculus | Terb1 | ENSMUSG00000052616 |
| rattus_norvegicus | Terb1 | ENSRNOG00000055097 |
Protein
Protein identifiers
Telomere repeats-binding bouquet formation protein 1 — Q8NA31 (reviewed: Q8NA31)
Alternative names: Coiled-coil domain-containing protein 79
All UniProt accessions (4): A0A669KAY0, Q8NA31, J3KSG9, J3KT78
UniProt curated annotations — full annotation on UniProt →
Function. Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment’. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.
Subunit / interactions. Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2. Interacts with TERF1, STAG3 and SUN1. Interacts (via Myb-like domain) with the cohesin complex; probably mediated via interaction with STAG3.
Subcellular location. Chromosome. Telomere. Nucleus inner membrane.
Post-translational modifications. Phosphorylated by CDK. Phosphorylation by CDK takes place in late prophase when the cap exchange is prominent. is important for the stabilization of telomere attachment but dispenable for the cap exchange.
Disease relevance. Spermatogenic failure 60 (SPGF60) [MIM:619646] An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest before the pachytene stage. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TERB1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NA31-1 | 1 | yes |
| Q8NA31-2 | 2 | |
| Q8NA31-3 | 3 |
RefSeq proteins (1): NP_001129977* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001005 | SANT/Myb | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR042359 | TERB1 | Family |
Pfam: PF00249
UniProt features (21 total): sequence variant 4, splice variant 3, repeat 2, turn 2, helix 2, region of interest 2, chain 1, strand 1, domain 1, coiled-coil region 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WIR | X-RAY DIFFRACTION | 2.1 |
| 5XUP | X-RAY DIFFRACTION | 2.1 |
| 6J07 | X-RAY DIFFRACTION | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NA31-F1 | 71.42 | 0.41 |
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): 648
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, chr16q22, GOBP_CHROMOSOME_LOCALIZATION, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_CHROMOSOME_ORGANIZATION_INVOLVED_IN_MEIOTIC_CELL_CYCLE, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_ORGANELLE_LOCALIZATION, GOBP_HOMOLOGOUS_CHROMOSOME_PAIRING_AT_MEIOSIS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOCC_NUCLEAR_ENVELOPE, GOBP_MEIOTIC_CELL_CYCLE, GOCC_CHROMOSOMAL_REGION
GO Biological Process (5): homologous chromosome pairing at meiosis (GO:0007129), meiotic telomere clustering (GO:0045141), meiotic attachment of telomere to nuclear envelope (GO:0070197), double-strand break repair involved in meiotic recombination (GO:1990918), meiotic cell cycle (GO:0051321)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (7): chromosome, telomeric region (GO:0000781), nuclear envelope (GO:0005635), nuclear inner membrane (GO:0005637), shelterin complex (GO:0070187), nucleus (GO:0005634), chromosome (GO:0005694), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chromosome organization involved in meiotic cell cycle | 2 |
| meiotic cell cycle process | 2 |
| homologous chromosome segregation | 1 |
| telomere localization | 1 |
| chromosome localization to nuclear envelope involved in homologous chromosome segregation | 1 |
| meiotic telomere tethering at nuclear periphery | 1 |
| chromosome attachment to the nuclear envelope | 1 |
| double-strand break repair | 1 |
| reciprocal meiotic recombination | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| binding | 1 |
| chromosomal region | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| organelle inner membrane | 1 |
| nuclear membrane | 1 |
| nuclear telomere cap complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
596 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TERB1 | TERB2 | Q8NHR7 | 995 |
| TERB1 | H0YEC1 | H0YEC1 | 991 |
| TERB1 | SUN1 | O94901 | 968 |
| TERB1 | KASH5 | Q8N6L0 | 875 |
| TERB1 | TERF1 | P54274 | 800 |
| TERB1 | SUN2 | Q9UH99 | 740 |
| TERB1 | SPDYA | Q5MJ70 | 728 |
| TERB1 | HORMAD2 | Q8N7B1 | 674 |
| TERB1 | SMC1B | Q8NDV3 | 652 |
| TERB1 | HORMAD1 | Q86X24 | 649 |
| TERB1 | STAG3 | Q9UJ98 | 621 |
| TERB1 | RAD21L1 | Q9H4I0 | 603 |
| TERB1 | CDK2 | P24941 | 579 |
| TERB1 | CTC1 | Q2NKJ3 | 560 |
| TERB1 | MEIOB | Q8N635 | 533 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TERF1 | TERB1 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| TERB1 | TERF1 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| TERF1 | TERB1 | psi-mi:“MI:0403”(colocalization) | 0.650 |
BioGRID (1): CCDC79 (Affinity Capture-MS)
ESM2 similar proteins: A1L3L1, A2RT67, A3KPW7, A4IIA7, A8C750, A8C752, D2HNY3, E1BGQ2, E1C3P4, Q08CL8, Q08DZ8, Q0IHB3, Q149N8, Q1RMU2, Q1RMZ1, Q3MJ13, Q3T1H6, Q5F3F2, Q5RED8, Q5VVJ2, Q5ZJ87, Q66J91, Q69Z66, Q6AYF5, Q6DE97, Q6GR37, Q6P1E7, Q6PNC0, Q6YHU6, Q7TPQ3, Q8BKW4, Q8BXK4, Q8IWR0, Q8IYF3, Q8IZE3, Q8K2I9, Q8NA31, Q8NEN0, Q8NFZ0, Q96EW2
Diamond homologs: Q1LX29, Q8C0V1, Q8NA31
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SUN1 | “up-regulates activity” | TERB1 | binding |
| TERB1 | “form complex” | “TTM complex” | binding |
| TERB1 | “up-regulates activity” | TERF1 | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1244235 | NM_001136505.2(TERB1):c.1703C>G (p.Ser568Ter) | Pathogenic |
| 1326959 | NM_001136505.2(TERB1):c.289_290del (p.Leu97fs) | Pathogenic |
| 1326960 | NM_001136505.2(TERB1):c.1813C>T (p.Arg605Ter) | Pathogenic |
| 1328957 | NM_001136505.2(TERB1):c.733G>A (p.Gly245Arg) | Pathogenic |
| 395502 | GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | Pathogenic |
SpliceAI
3056 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:66758775:A:AC | donor_gain | 1.0000 |
| 16:66758775:ATT:A | donor_gain | 1.0000 |
| 16:66758775:ATTC:A | donor_gain | 1.0000 |
| 16:66758776:T:C | donor_gain | 1.0000 |
| 16:66759139:A:AC | donor_gain | 1.0000 |
| 16:66759140:C:CC | donor_gain | 1.0000 |
| 16:66759162:T:A | donor_gain | 1.0000 |
| 16:66759167:A:AC | donor_gain | 1.0000 |
| 16:66759167:AGTT:A | donor_gain | 1.0000 |
| 16:66772592:ATTT:A | donor_gain | 1.0000 |
| 16:66772595:T:TA | donor_gain | 1.0000 |
| 16:66772632:T:A | donor_gain | 1.0000 |
| 16:66772642:T:A | donor_gain | 1.0000 |
| 16:66772752:T:C | acceptor_gain | 1.0000 |
| 16:66772752:T:TC | acceptor_gain | 1.0000 |
| 16:66772757:G:GC | acceptor_gain | 1.0000 |
| 16:66772759:A:AC | acceptor_gain | 1.0000 |
| 16:66775111:CACTT:C | donor_loss | 1.0000 |
| 16:66775112:ACTT:A | donor_loss | 1.0000 |
| 16:66775113:CTTAC:C | donor_loss | 1.0000 |
| 16:66775114:TTA:T | donor_loss | 1.0000 |
| 16:66775115:TA:T | donor_loss | 1.0000 |
| 16:66775116:A:AC | donor_gain | 1.0000 |
| 16:66775116:AC:A | donor_loss | 1.0000 |
| 16:66775117:C:A | donor_loss | 1.0000 |
| 16:66775117:C:CA | donor_gain | 1.0000 |
| 16:66775117:CT:C | donor_gain | 1.0000 |
| 16:66775117:CTA:C | donor_gain | 1.0000 |
| 16:66775117:CTAA:C | donor_gain | 1.0000 |
| 16:66775117:CTAAT:C | donor_gain | 1.0000 |
AlphaMissense
4844 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:66786065:A:G | W176R | 0.994 |
| 16:66786065:A:T | W176R | 0.994 |
| 16:66755083:A:G | W693R | 0.993 |
| 16:66755083:A:T | W693R | 0.993 |
| 16:66791004:A:G | L16P | 0.993 |
| 16:66759219:A:G | C618R | 0.990 |
| 16:66790669:A:G | L66P | 0.990 |
| 16:66790983:A:G | L23P | 0.989 |
| 16:66785819:A:G | C223R | 0.988 |
| 16:66786043:A:G | L183P | 0.988 |
| 16:66790631:C:G | A79P | 0.988 |
| 16:66767421:A:G | C592R | 0.987 |
| 16:66786275:T:A | Q137H | 0.987 |
| 16:66786275:T:G | Q137H | 0.987 |
| 16:66775138:A:G | L364P | 0.986 |
| 16:66775225:A:G | L335P | 0.986 |
| 16:66786035:A:G | C186R | 0.986 |
| 16:66767420:C:G | C592S | 0.985 |
| 16:66767421:A:T | C592S | 0.985 |
| 16:66778878:A:G | C280R | 0.985 |
| 16:66778908:C:G | A270P | 0.984 |
| 16:66785901:A:C | N195K | 0.984 |
| 16:66785901:A:T | N195K | 0.984 |
| 16:66759218:C:G | C618S | 0.983 |
| 16:66759219:A:T | C618S | 0.983 |
| 16:66778958:A:G | L253P | 0.983 |
| 16:66785857:A:G | L210P | 0.983 |
| 16:66785898:T:A | Q196H | 0.983 |
| 16:66785898:T:G | Q196H | 0.983 |
| 16:66786279:C:T | G136E | 0.983 |
dbSNP variants (sampled 300 via entrez): RS1000101033 (16:66759100 T>A), RS1000252941 (16:66797812 T>C), RS1000401105 (16:66791166 T>C), RS1000530320 (16:66756273 T>C), RS1000596763 (16:66754308 C>A,T), RS1000638373 (16:66800086 G>A), RS1000701872 (16:66757390 G>A,C), RS1000733461 (16:66792732 G>A), RS1000753359 (16:66793062 C>G), RS1000804665 (16:66800852 C>T), RS1000890474 (16:66801047 G>A,C), RS1000907407 (16:66793719 C>T), RS1001009581 (16:66777737 A>C,T), RS1001123256 (16:66785824 G>A,C), RS1001135529 (16:66757676 A>G)
Disease associations
OMIM: gene MIM:617332 | disease phenotypes: MIM:619646
GenCC curated gene-disease
Mondo (2): spermatogenic failure 60 (MONDO:0030493), azoospermia (MONDO:0100459)
Orphanet (0):
HPO phenotypes
11 total (11 of 11 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000027 | Azoospermia |
| HP:0000118 | Phenotypic abnormality |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0003251 | Male infertility |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0008734 | Decreased testicular size |
| HP:0011462 | Young adult onset |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0031038 | Spermatogenesis maturation arrest |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053713 | Azoospermia | C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066367 (SINGLE PROTEIN)
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 |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651052 | Binding | Binding affinity to human CCDC79 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
27 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02307994 | PHASE4 | UNKNOWN | Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH |
| NCT02275169 | PHASE3 | UNKNOWN | FSH Treatment for Non-obstructive Azoospermic Patients |
| NCT02544191 | PHASE2 | UNKNOWN | GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia |
| NCT03762967 | PHASE2 | UNKNOWN | Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility |
| NCT02041910 | PHASE1/PHASE2 | UNKNOWN | Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia |
| NCT00282477 | Not specified | UNKNOWN | Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls |
| NCT00484081 | Not specified | COMPLETED | Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT01375062 | Not specified | COMPLETED | Obtaining Undifferentiated Cells From Testis Biopsy |
| NCT01509482 | Not specified | COMPLETED | Insulin Resistance in Idiopathic Oligospermia and Azoospermia |
| NCT02008799 | Not specified | UNKNOWN | Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia |
| NCT02339272 | Not specified | COMPLETED | Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility |
| NCT02414295 | Not specified | COMPLETED | Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection |
| NCT02418832 | Not specified | RECRUITING | Testis Needle Aspiration of Sperm in Men With Azoospermia |
| NCT02617173 | Not specified | UNKNOWN | The Effect of Low Electrical Current on Testicular Spermatocyte Count |
| NCT02773498 | Not specified | TERMINATED | Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track |
| NCT03497728 | Not specified | TERMINATED | Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients |
| NCT04675164 | Not specified | COMPLETED | Laser Assisted Sperm Selection of Viable Immotile Testicular Sperm in Azoospermic Infertile Men |
| NCT05479474 | Not specified | RECRUITING | Platelet Rich Plasma Testis Treatment for Infertile Men |
| NCT05628987 | Not specified | RECRUITING | The Association of Gut Microbiota and Spermatogenic Dysfunction |
| NCT05866484 | Not specified | COMPLETED | Testicular Sperm Aspiration (TESA) vs. Microfluidic Sperm Separation (MSS) |
| NCT06524258 | Not specified | COMPLETED | Testicular Elastography for Microscopic Testicular Sperm Extraction |
| NCT06841328 | Not specified | RECRUITING | Fertility Enhancement Through Regenerative Treatment in Ovaries and Testes |
| NCT06941922 | Not specified | RECRUITING | Testicular Evaluation of Azoospermia Using Micro-Ultrasound |
| NCT07074015 | Not specified | RECRUITING | IntelliWell: An AI-Assisted Imaging Platform for Detection and Location of Ultra-Rare Testicular Sperm in Surgical Specimens |
| NCT07357701 | Not specified | RECRUITING | Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI) |
| NCT07542626 | Not specified | RECRUITING | Fertility Restoration With Autografting of Cryopreserved Immature Testicular Tissue |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): azoospermia, spermatogenic failure 60