ATG9B
gene geneOn this page
Also known as FLJ14885APG9L2SONE
Summary
ATG9B (autophagy related 9B, HGNC:21899) is a protein-coding gene on chromosome 7q36.1, encoding Autophagy-related protein 9B (Q674R7). Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion.
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3’ overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 285973 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 219 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001317056
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21899 |
| Approved symbol | ATG9B |
| Name | autophagy related 9B |
| Location | 7q36.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14885, APG9L2, SONE |
| Ensembl gene | ENSG00000181652 |
| Ensembl biotype | protein_coding |
| OMIM | 612205 |
| Entrez | 285973 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 5 protein_coding_CDS_not_defined, 3 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay
ENST00000404733, ENST00000466157, ENST00000469530, ENST00000471797, ENST00000473134, ENST00000473409, ENST00000476282, ENST00000498521, ENST00000605952, ENST00000617967, ENST00000639579
RefSeq mRNA: 1 — MANE Select: NM_001317056
NM_001317056
CCDS: CCDS83242
Canonical transcript exons
ENST00000639579 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003497448 | 151023687 | 151023730 |
| ENSE00003530541 | 151021188 | 151021329 |
| ENSE00003593290 | 151023045 | 151023206 |
| ENSE00003611101 | 151016109 | 151016235 |
| ENSE00003623396 | 151023445 | 151023509 |
| ENSE00003713884 | 151016431 | 151016527 |
| ENSE00003720660 | 151018620 | 151019374 |
| ENSE00003723700 | 151017871 | 151018050 |
| ENSE00003732631 | 151018294 | 151018447 |
| ENSE00003734644 | 151015882 | 151016023 |
| ENSE00003750613 | 151016688 | 151016821 |
| ENSE00003752626 | 151015151 | 151015713 |
| ENSE00003754302 | 151017036 | 151017272 |
| ENSE00003928425 | 151023874 | 151024494 |
Expression profiles
Bgee: expression breadth ubiquitous, 179 present calls, max score 99.04.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9862 / max 289.7789, expressed in 408 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 86849 | 1.1719 | 171 |
| 86845 | 0.3414 | 132 |
| 86847 | 0.2060 | 71 |
| 86850 | 0.1345 | 47 |
| 86848 | 0.1182 | 55 |
| 86846 | 0.0144 | 3 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 99.04 | gold quality |
| skin of leg | UBERON:0001511 | 92.98 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.26 | gold quality |
| right testis | UBERON:0004534 | 89.13 | gold quality |
| upper arm skin | UBERON:0004263 | 88.67 | gold quality |
| left testis | UBERON:0004533 | 88.57 | gold quality |
| right uterine tube | UBERON:0001302 | 87.95 | gold quality |
| zone of skin | UBERON:0000014 | 87.79 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.98 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.73 | gold quality |
| pituitary gland | UBERON:0000007 | 84.82 | gold quality |
| testis | UBERON:0000473 | 84.44 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.48 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.46 | gold quality |
| amniotic fluid | UBERON:0000173 | 81.50 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 80.31 | gold quality |
| bronchial epithelial cell | CL:0002328 | 80.26 | gold quality |
| sperm | CL:0000019 | 79.84 | gold quality |
| cortical plate | UBERON:0005343 | 79.19 | gold quality |
| vagina | UBERON:0000996 | 78.94 | gold quality |
| decidua | UBERON:0002450 | 78.89 | gold quality |
| placenta | UBERON:0001987 | 78.86 | gold quality |
| bronchus | UBERON:0002185 | 78.67 | gold quality |
| spleen | UBERON:0002106 | 77.89 | gold quality |
| esophagus | UBERON:0001043 | 77.47 | gold quality |
| nucleus accumbens | UBERON:0001882 | 77.39 | gold quality |
| hypothalamus | UBERON:0001898 | 76.93 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 75.64 | gold quality |
| ectocervix | UBERON:0012249 | 73.71 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9543 | yes | 9.37 |
| E-ANND-3 | yes | 9.29 |
| E-MTAB-10018 | no | 296.89 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 7)
- APG9L2 is highly expressed in placenta (trophoblast cells) and pituitary gland of adult tissues. (PMID:15755735)
- The role of Atg9 trafficking in yeast and mammalian autophagy, is summarised. (PMID:20083107)
- This study highlights the transcriptional inactivation mechanisms of ATG2B, ATG4D, ATG9A and ATG9B promoter methylation status and the possible origin of autophagy signal pathway repression in invasive ductal carcinomas. (PMID:27265029)
- Aging is associated with a decline in Atg9b-mediated autophagosome formation and appearance of enlarged mitochondria in the heart. (PMID:32627317)
- Contribution of NOS3AS Variants to Susceptibility to Essential Hypertension: A Study in Kermanshah Province, Western Iran. (PMID:36966459)
- ATG9B is a tissue-specific homotrimeric lipid scramblase that can compensate for ATG9A. (PMID:37938170)
- Depletion of CPNE7 sensitizes colorectal cancer to 5-fluorouracil by downregulating ATG9B expression. (PMID:38526029)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atg9b | ENSDARG00000055292 |
| mus_musculus | Atg9b | ENSMUSG00000038295 |
| rattus_norvegicus | Atg9b | ENSRNOG00000023449 |
| drosophila_melanogaster | Atg9 | FBGN0034110 |
| caenorhabditis_elegans | WBGENE00020706 |
Paralogs (1): ATG9A (ENSG00000198925)
Protein
Protein identifiers
Autophagy-related protein 9B — Q674R7 (reviewed: Q674R7)
Alternative names: APG9-like 2, Nitric oxide synthase 3-overlapping antisense gene protein
All UniProt accessions (1): Q674R7
UniProt curated annotations — full annotation on UniProt →
Function. Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion. Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome. Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 (ATG2A or ATG2B) from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion. In addition to autophagy, also plays a role in necrotic cell death.
Subunit / interactions. Homotrimer; forms a homotrimer with a central pore that forms a path between the two membrane leaflets.
Subcellular location. Preautophagosomal structure membrane.
Tissue specificity. Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial.
Domain organisation. Forms a homotrimer with a solvated central pore, which is connected laterally to the cytosol through the cavity within each protomer. Acts as a lipid scramblase that uses its central pore to function: the central pore opens laterally to accommodate lipid headgroups, thereby enabling lipid flipping and redistribution of lipids added to the outer leaflet of ATG9B-containing vesicles, thereby enabling growth into autophagosomes. The tyrosine-based sorting signal motif, also named YXX-psi motif, promotes interaction with the AP-4 complex.
Induction. By hypoxia, leading to inhibit NOS3 expression.
Miscellaneous. ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662 nucleotides. ATG9B transcription may a role in NOS3 transcription regulation.
Similarity. Belongs to the ATG9 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q674R7-1 | 1 | yes |
| Q674R7-2 | 2 | |
| Q674R7-3 | 3 |
RefSeq proteins (1): NP_001303985* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007241 | Autophagy-rel_prot_9 | Family |
Pfam: PF04109
Catalyzed reactions (Rhea), 3 shown:
- a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) (RHEA:38571)
- a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:38663)
- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) (RHEA:38895)
UniProt features (32 total): topological domain 7, compositionally biased region 6, transmembrane region 4, splice variant 4, sequence conflict 4, intramembrane region 2, region of interest 2, chain 1, short sequence motif 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8POE | ELECTRON MICROSCOPY | 4.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q674R7-F1 | 69.20 | 0.37 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1632852 | Macroautophagy |
| R-HSA-9612973 | Autophagy |
MSigDB gene sets: 110 (showing top):
GOBP_VACUOLE_ORGANIZATION, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_MEMBRANE_LIPID_DISTRIBUTION, GOBP_MACROAUTOPHAGY, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOCC_TRANS_GOLGI_NETWORK, GOBP_ORGANELLE_ASSEMBLY, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PHOSPHOLIPID_TRANSPORT, GOBP_MEMBRANE_ORGANIZATION
GO Biological Process (10): autophagosome assembly (GO:0000045), mitophagy (GO:0000423), protein localization to phagophore assembly site (GO:0034497), piecemeal microautophagy of the nucleus (GO:0034727), bone morphogenesis (GO:0060349), reticulophagy (GO:0061709), programmed necrotic cell death (GO:0097300), lipid transport (GO:0006869), autophagy (GO:0006914), plasma membrane phospholipid scrambling (GO:0017121)
GO Molecular Function (1): phospholipid scramblase activity (GO:0017128)
GO Cellular Component (9): Golgi membrane (GO:0000139), phagophore assembly site (GO:0000407), autophagosome (GO:0005776), endoplasmic reticulum membrane (GO:0005789), trans-Golgi network (GO:0005802), phagophore assembly site membrane (GO:0034045), recycling endosome membrane (GO:0055038), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Autophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| macroautophagy | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| autophagy of mitochondrion | 1 |
| autophagosome assembly | 1 |
| intracellular protein localization | 1 |
| microautophagy | 1 |
| nucleophagy | 1 |
| nucleus disassembly | 1 |
| animal organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| bone development | 1 |
| programmed cell death | 1 |
| transport | 1 |
| lipid localization | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| plasma membrane organization | 1 |
| phospholipid translocation | 1 |
| plasma membrane phospholipid scrambling | 1 |
| intramembrane lipid carrier activity | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasm | 1 |
| vacuole | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| Golgi apparatus subcompartment | 1 |
| phagophore assembly site | 1 |
| membrane | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
Protein interactions and networks
STRING
1002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATG9B | WIPI1 | Q5MNZ9 | 803 |
| ATG9B | ATG2B | Q96BY7 | 772 |
| ATG9B | MAP1LC3A | Q9H492 | 769 |
| ATG9B | ATG16L2 | Q8NAA4 | 715 |
| ATG9B | ATG12 | O94817 | 711 |
| ATG9B | ATG5 | Q9H1Y0 | 709 |
| ATG9B | UVRAG | Q9P2Y5 | 703 |
| ATG9B | ATG4C | Q96DT6 | 686 |
| ATG9B | BECN1 | Q14457 | 678 |
| ATG9B | ATG2A | Q2TAZ0 | 675 |
| ATG9B | ATG10 | Q9H0Y0 | 665 |
| ATG9B | ATG3 | Q9NT62 | 665 |
| ATG9B | ATG7 | O95352 | 664 |
| ATG9B | ATG4A | Q8WYN0 | 657 |
| ATG9B | ATG4D | Q86TL0 | 655 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KIF3A | KIF3C | psi-mi:“MI:0914”(association) | 0.730 |
| CAPZA2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.640 |
| LACC1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXL4 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| ATG9B | GTF2IRD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIF3A | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTDSS1 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG9B | PHKG2 | psi-mi:“MI:0914”(association) | 0.350 |
| PEMT | FABP7 | psi-mi:“MI:0914”(association) | 0.350 |
| PLD5 | MACROH2A1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (32): ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Two-hybrid), ATG9B (Two-hybrid), ATG9B (Affinity Capture-MS), FBXO3 (Affinity Capture-MS), PHKG2 (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS), GTF2IRD1 (Affinity Capture-MS), ATG9B (Affinity Capture-MS), ATG9B (Affinity Capture-MS)
ESM2 similar proteins: A3KN95, A4IFG4, A7E2I7, E2RDP2, J3QMI4, O94810, O95382, P0C5W1, P23677, P82350, Q15628, Q16586, Q1RMX3, Q24JP5, Q28686, Q29RH2, Q3T904, Q3U0S6, Q45T69, Q49LS1, Q5FWU3, Q5RCS0, Q5U651, Q64255, Q674R7, Q684M2, Q68FE2, Q68FE7, Q6EBV9, Q6GQT5, Q6NY19, Q6P9Q4, Q6PEY1, Q7Z3C6, Q80WF4, Q80XF7, Q86TL0, Q86XJ0, Q8C052, Q8C152
Diamond homologs: A1DNW0, A7KAM0, Q1E6Q3, Q2UUT6, Q3T904, Q4WLT9, Q54NA3, Q5FWU3, Q5RCS0, Q674R7, Q68FE2, Q6CT08, Q6EBV9, Q75A48, Q7Z3C6, Q876N4, A2QLJ9, Q51WZ9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TFE3 | “up-regulates quantity by expression” | ATG9B | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
219 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 163 |
| Likely benign | 15 |
| Benign | 9 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 929759 | NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter) | Likely pathogenic |
SpliceAI
3155 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:151013723:GACC:G | acceptor_gain | 1.0000 |
| 7:151013886:G:GT | donor_gain | 1.0000 |
| 7:151013915:GCGG:G | donor_gain | 1.0000 |
| 7:151013918:GGTG:G | donor_loss | 1.0000 |
| 7:151013919:G:C | donor_loss | 1.0000 |
| 7:151013919:G:GG | donor_gain | 1.0000 |
| 7:151013920:T:A | donor_loss | 1.0000 |
| 7:151014002:C:CA | acceptor_gain | 1.0000 |
| 7:151014003:GACA:G | acceptor_loss | 1.0000 |
| 7:151014004:ACAG:A | acceptor_loss | 1.0000 |
| 7:151014005:CA:C | acceptor_loss | 1.0000 |
| 7:151014006:A:AG | acceptor_gain | 1.0000 |
| 7:151014006:AG:A | acceptor_gain | 1.0000 |
| 7:151014007:G:A | acceptor_loss | 1.0000 |
| 7:151014007:G:GG | acceptor_gain | 1.0000 |
| 7:151014007:GG:G | acceptor_gain | 1.0000 |
| 7:151016231:TGAAG:T | acceptor_gain | 1.0000 |
| 7:151016232:GAAG:G | acceptor_gain | 1.0000 |
| 7:151016233:AAG:A | acceptor_gain | 1.0000 |
| 7:151016234:AG:A | acceptor_gain | 1.0000 |
| 7:151016236:C:CC | acceptor_gain | 1.0000 |
| 7:151016240:A:C | acceptor_gain | 1.0000 |
| 7:151016426:CTCA:C | donor_loss | 1.0000 |
| 7:151016429:A:AC | donor_gain | 1.0000 |
| 7:151016429:AC:A | donor_gain | 1.0000 |
| 7:151016430:C:CT | donor_gain | 1.0000 |
| 7:151016430:CC:C | donor_gain | 1.0000 |
| 7:151016430:CCT:C | donor_gain | 1.0000 |
| 7:151016430:CCTG:C | donor_gain | 1.0000 |
| 7:151016523:CAGAG:C | acceptor_gain | 1.0000 |
AlphaMissense
5875 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:151017192:G:C | F711L | 0.995 |
| 7:151017192:G:T | F711L | 0.995 |
| 7:151017194:A:G | F711L | 0.995 |
| 7:151017958:A:C | F655L | 0.994 |
| 7:151017958:A:T | F655L | 0.994 |
| 7:151017960:A:G | F655L | 0.994 |
| 7:151017946:G:C | F659L | 0.993 |
| 7:151017946:G:T | F659L | 0.993 |
| 7:151017948:A:G | F659L | 0.993 |
| 7:151017193:A:G | F711S | 0.992 |
| 7:151017913:A:C | C670W | 0.991 |
| 7:151019259:C:G | R360P | 0.991 |
| 7:151019251:G:T | R363S | 0.990 |
| 7:151019260:G:T | R360S | 0.990 |
| 7:151018859:G:C | N493K | 0.989 |
| 7:151018859:G:T | N493K | 0.989 |
| 7:151021215:A:C | F312L | 0.989 |
| 7:151021215:A:T | F312L | 0.989 |
| 7:151021217:A:G | F312L | 0.989 |
| 7:151023703:T:A | D193V | 0.989 |
| 7:151019240:G:C | N366K | 0.988 |
| 7:151019240:G:T | N366K | 0.988 |
| 7:151021216:A:G | F312S | 0.988 |
| 7:151017914:C:T | C670Y | 0.987 |
| 7:151017923:C:A | G667V | 0.987 |
| 7:151017923:C:T | G667E | 0.987 |
| 7:151017944:G:A | T660I | 0.987 |
| 7:151019351:C:A | W329C | 0.987 |
| 7:151019351:C:G | W329C | 0.987 |
| 7:151019239:A:C | Y367D | 0.986 |
dbSNP variants (sampled 300 via entrez): RS1000204701 (7:151018256 CA>C), RS1000281042 (7:151016961 T>C,G), RS1000362669 (7:151013486 G>A,C,T), RS1000880377 (7:151012987 G>A,T), RS1000885845 (7:151021498 A>G), RS1001099345 (7:151011955 G>A,C), RS1001235123 (7:151015637 A>T), RS1001840124 (7:151014450 T>C), RS1002320767 (7:151015782 AC>A,ACC), RS1002657834 (7:151014603 T>G), RS1002834049 (7:151013545 C>G,T), RS1002897799 (7:151018329 A>T), RS1003340191 (7:151018310 A>C,T), RS1003416013 (7:151019653 T>G), RS1003533294 (7:151024359 G>A,C,T)
Disease associations
OMIM: gene MIM:612205 | 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
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_9 | Eyebrow thickness | 7.000000e-06 |
| GCST012490_554 | Femur bone mineral density x serum urate levels interaction | 4.000000e-12 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate 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
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases abundance, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, decreases reaction, increases abundance | 2 |
| sotorasib | affects cotreatment, decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| stearic acid | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| trovafloxacin | increases expression, increases reaction | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| licochalcone B | increases expression | 1 |
| bisphenol S | decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| NVP-BKM120 | affects cotreatment, decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | decreases reaction, decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Folic Acid | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Sodium Dodecyl Sulfate | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Okadaic Acid | 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.