DACH2
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Summary
DACH2 (dachshund family transcription factor 2, HGNC:16814) is a protein-coding gene on chromosome Xq21.2, encoding Dachshund homolog 2 (Q96NX9). Transcription factor that is involved in regulation of organogenesis.
This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 117154 — RefSeq curated summary.
At a glance
- Gene–disease (curated): primary ovarian failure (Limited, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 124 total
- MANE Select transcript:
NM_053281
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16814 |
| Approved symbol | DACH2 |
| Name | dachshund family transcription factor 2 |
| Location | Xq21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000126733 |
| Ensembl biotype | protein_coding |
| OMIM | 300608 |
| Entrez | 117154 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 nonsense_mediated_decay
ENST00000373125, ENST00000373131, ENST00000461604, ENST00000484479, ENST00000506327, ENST00000508860, ENST00000510272
RefSeq mRNA: 3 — MANE Select: NM_053281
NM_001139514, NM_001139515, NM_053281
CCDS: CCDS14455, CCDS48140, CCDS55457
Canonical transcript exons
ENST00000373125 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001634305 | 86714548 | 86714720 |
| ENSE00003473900 | 86832106 | 86832602 |
| ENSE00003478843 | 86514279 | 86514391 |
| ENSE00003540694 | 86813130 | 86813277 |
| ENSE00003554728 | 86376824 | 86376862 |
| ENSE00003555518 | 86816034 | 86816099 |
| ENSE00003562053 | 86695021 | 86695179 |
| ENSE00003620452 | 86739747 | 86739882 |
| ENSE00003660790 | 86651036 | 86651167 |
| ENSE00003663002 | 86812856 | 86813004 |
| ENSE00003671089 | 86814688 | 86814834 |
| ENSE00003844511 | 86148451 | 86149108 |
Expression profiles
Bgee: expression breadth ubiquitous, 124 present calls, max score 92.49.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0957 / max 301.4259, expressed in 312 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 196849 | 1.0169 | 262 |
| 196852 | 0.9759 | 90 |
| 196850 | 0.0575 | 20 |
| 196851 | 0.0455 | 15 |
Top tissues by expression
225 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 92.49 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.86 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.52 | gold quality |
| entorhinal cortex | UBERON:0002728 | 85.07 | gold quality |
| oviduct epithelium | UBERON:0004804 | 84.48 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.47 | gold quality |
| postcentral gyrus | UBERON:0002581 | 79.89 | silver quality |
| nucleus accumbens | UBERON:0001882 | 79.10 | gold quality |
| ventricular zone | UBERON:0003053 | 78.54 | gold quality |
| Ammon’s horn | UBERON:0001954 | 78.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 77.77 | gold quality |
| parietal lobe | UBERON:0001872 | 77.71 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 77.52 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 77.46 | gold quality |
| temporal lobe | UBERON:0001871 | 77.38 | gold quality |
| cerebral cortex | UBERON:0000956 | 77.16 | gold quality |
| islet of Langerhans | UBERON:0000006 | 76.75 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 76.54 | gold quality |
| frontal cortex | UBERON:0001870 | 76.33 | gold quality |
| neocortex | UBERON:0001950 | 76.09 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.93 | gold quality |
| hypothalamus | UBERON:0001898 | 75.75 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 74.97 | gold quality |
| caudate nucleus | UBERON:0001873 | 74.24 | gold quality |
| amygdala | UBERON:0001876 | 73.80 | gold quality |
| forebrain | UBERON:0001890 | 73.11 | gold quality |
| putamen | UBERON:0001874 | 72.38 | gold quality |
| primary visual cortex | UBERON:0002436 | 71.78 | gold quality |
| right uterine tube | UBERON:0001302 | 71.69 | gold quality |
| right frontal lobe | UBERON:0002810 | 71.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-2 | yes | 8804.15 |
| E-ANND-3 | yes | 4.57 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| HELT | |
| MYOG | Repression |
Upstream regulators (CollecTRI, top): MYOG
miRNA regulators (miRDB)
49 targeting DACH2, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
Literature-anchored findings (GeneRIF, showing 3)
- Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Only one of the six breakpoints disrupts a gene, DACH2. (PMID:12438735)
- Exome sequencing in two brothers with distinct phenotype including congenital language disorder, growth retardation, intellectual disability and urinary and fecal incontinence, identifies missense mutations in ABCD1 and DACH2. (PMID:25234129)
- DACH2 is an independent prognostic marker that can be used at initial diagnosis of urothelial carcinoma of the bladder to identify patients who have a high potential to develop metastasis. (PMID:25744029)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dacha | ENSDARG00000010132 |
| danio_rerio | dachb | ENSDARG00000034785 |
| mus_musculus | Dach2 | ENSMUSG00000025592 |
| rattus_norvegicus | Dach2 | ENSRNOG00000004869 |
| drosophila_melanogaster | dac | FBGN0005677 |
| caenorhabditis_elegans | WBGENE00000895 |
Paralogs (1): DACH1 (ENSG00000276644)
Protein
Protein identifiers
Dachshund homolog 2 — Q96NX9 (reviewed: Q96NX9)
All UniProt accessions (4): Q96NX9, D6REJ4, D6RFG7, H0Y912
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to act as a corepressor of SIX6 in regulating proliferation by directly repressing cyclin-dependent kinase inhibitors, including the p27Kip1 promoter. Is recruited with SIX6 to the p27Kip1 promoter in embryonal retina. SIX6 corepression also seems to involve NCOR1, TBL1, HDAC1 and HDAC3. May be involved together with PAX3, SIX1, and EYA2 in regulation of myogenesis. In the developing somite, expression of DACH2 and PAX3 is regulated by the overlying ectoderm, and DACH2 and PAX3 positively regulate each other’s expression. Probably binds to DNA via its DACHbox-N domain.
Subunit / interactions. Interacts with SIX6 and EYA2.
Subcellular location. Nucleus.
Domain organisation. The DACHbox-N/DD1 domain forms a structure containing a DNA binding motif similar to that of the forkhead/winged helix domain.
Similarity. Belongs to the DACH/dachshund family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96NX9-1 | 1 | yes |
| Q96NX9-2 | 2 | |
| Q96NX9-3 | 3 | |
| Q96NX9-4 | 4 |
RefSeq proteins (3): NP_001132986, NP_001132987, NP_444511* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003380 | SKI/SNO/DAC | Domain |
| IPR009061 | DNA-bd_dom_put_sf | Homologous_superfamily |
| IPR037000 | Ski_DNA-bd_sf | Homologous_superfamily |
| IPR052417 | Dachshund_domain | Family |
Pfam: PF02437
UniProt features (13 total): region of interest 5, splice variant 4, compositionally biased region 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96NX9-F1 | 62.69 | 0.32 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 84 (showing top):
BENPORATH_ES_WITH_H3K27ME3, NFKB_C, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_FEMALE_SEX_DIFFERENTIATION, GOBP_SEX_DIFFERENTIATION, AACTTT_UNKNOWN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, CDPCR3HD_01, GOBP_DEVELOPMENT_OF_PRIMARY_SEXUAL_CHARACTERISTICS, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, OSF2_Q6, SMAD4_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SMAD_Q6, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_DN
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), development of primary female sexual characteristics (GO:0046545)
GO Molecular Function (3): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677)
GO Cellular Component (2): nucleus (GO:0005634), transcription regulator complex (GO:0005667)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| development of primary sexual characteristics | 1 |
| female sex differentiation | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DACH2 | EYA2 | O00167 | 727 |
| DACH2 | POF1B | Q8WVV4 | 669 |
| DACH2 | SATL1 | Q86VE3 | 590 |
| DACH2 | HDAC9 | Q9UKV0 | 583 |
| DACH2 | IL1RAPL2 | Q9NP60 | 542 |
| DACH2 | MYOG | P15173 | 533 |
| DACH2 | DIAPH2 | O60879 | 506 |
| DACH2 | HDAC4 | P56524 | 493 |
| DACH2 | KLHL4 | Q9C0H6 | 489 |
| DACH2 | SIX1 | Q15475 | 478 |
| DACH2 | XPNPEP2 | O43895 | 456 |
| DACH2 | APOOL | Q6UXV4 | 456 |
| DACH2 | NCOR1 | O75376 | 436 |
| DACH2 | FARSB | Q9NSD9 | 436 |
| DACH2 | CPXCR1 | Q8N123 | 434 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| DACH2 | ATP6V1G1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DACH2 | TSC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF9 | DACH2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DACH2 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| DACH2 | GYG2 | psi-mi:“MI:0914”(association) | 0.350 |
| DACH2 | TRIM26 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (24): GYG2 (Affinity Capture-MS), DACH1 (Affinity Capture-MS), DACH2 (Affinity Capture-MS), TRIM26 (Affinity Capture-MS), CD2AP (Affinity Capture-MS), DACH2 (Proximity Label-MS), DACH2 (Positive Genetic), DACH2 (Two-hybrid), DACH2 (Affinity Capture-RNA), DACH1 (Affinity Capture-MS), TRIM26 (Affinity Capture-MS), CD2AP (Affinity Capture-MS), GYG2 (Affinity Capture-MS), DACH2 (Affinity Capture-MS), DACH2 (Proximity Label-MS)
ESM2 similar proteins: A0A0G2JTZ2, A2BEA6, A4IFD2, B1H349, B3DM43, B3DM47, F1M8W4, O15409, O75030, P0CF24, P23899, P27889, P35680, P35710, P35711, P35712, P40645, P40647, P58463, P70062, P70063, P70064, Q23045, Q2LE08, Q4VYR7, Q4VYS1, Q58NQ4, Q5QL03, Q5RCU4, Q5RER5, Q5W1J5, Q6GL68, Q800Q5, Q86MD3, Q8HZ00, Q8MJ97, Q8MJ98, Q8MJ99, Q8MJA0, Q8STF6
Diamond homologs: H2KY91, Q1XH10, Q80YR3, Q925Q8, Q96NX9, Q9QYB2, Q9UI36, A7M7C7, P12755, P12757, P17863, P49140, P84550, P84551, Q02225, Q1LXZ9, Q2VWA4, Q5R431, Q60665, Q60698, Q8BX46, Q9TUG2
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DACH2 | “down-regulates quantity by repression” | MYOG | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3329 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:86149104:GCCAG:G | donor_gain | 1.0000 |
| X:86149107:AGG:A | donor_loss | 1.0000 |
| X:86149110:T:G | donor_loss | 1.0000 |
| X:86514274:A:AG | acceptor_gain | 1.0000 |
| X:86514276:CA:C | acceptor_loss | 1.0000 |
| X:86514277:A:AG | acceptor_gain | 1.0000 |
| X:86514278:G:GT | acceptor_gain | 1.0000 |
| X:86594508:A:G | donor_gain | 1.0000 |
| X:86651033:TAGGT:T | acceptor_loss | 1.0000 |
| X:86651034:A:C | acceptor_loss | 1.0000 |
| X:86651035:GGT:G | acceptor_gain | 1.0000 |
| X:86651163:CACAG:C | donor_gain | 1.0000 |
| X:86651164:ACAG:A | donor_gain | 1.0000 |
| X:86651165:CAGG:C | donor_loss | 1.0000 |
| X:86651166:AG:A | donor_gain | 1.0000 |
| X:86651166:AGGTG:A | donor_loss | 1.0000 |
| X:86651167:GG:G | donor_gain | 1.0000 |
| X:86651168:G:C | donor_loss | 1.0000 |
| X:86651168:G:GG | donor_gain | 1.0000 |
| X:86149068:A:T | donor_gain | 0.9900 |
| X:86149109:G:GG | donor_gain | 0.9900 |
| X:86206751:A:AG | acceptor_gain | 0.9900 |
| X:86206752:G:GG | acceptor_gain | 0.9900 |
| X:86256740:A:AG | acceptor_gain | 0.9900 |
| X:86376040:A:T | donor_gain | 0.9900 |
| X:86514275:A:G | acceptor_gain | 0.9900 |
| X:86514278:GT:G | acceptor_gain | 0.9900 |
| X:86514278:GTT:G | acceptor_gain | 0.9900 |
| X:86514278:GTTC:G | acceptor_gain | 0.9900 |
| X:86514278:GTTCA:G | acceptor_gain | 0.9900 |
AlphaMissense
3943 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:86148862:T:C | F81S | 1.000 |
| X:86148888:T:C | C90R | 1.000 |
| X:86148889:G:A | C90Y | 1.000 |
| X:86148890:C:G | C90W | 1.000 |
| X:86148903:T:C | F95L | 1.000 |
| X:86148905:T:A | F95L | 1.000 |
| X:86148905:T:G | F95L | 1.000 |
| X:86148912:T:C | F98L | 1.000 |
| X:86148913:T:C | F98S | 1.000 |
| X:86148914:T:A | F98L | 1.000 |
| X:86148914:T:G | F98L | 1.000 |
| X:86148916:T:C | L99P | 1.000 |
| X:86148933:G:C | G105R | 1.000 |
| X:86148939:C:G | H107D | 1.000 |
| X:86148956:G:C | K112N | 1.000 |
| X:86148956:G:T | K112N | 1.000 |
| X:86148958:T:C | L113P | 1.000 |
| X:86148987:T:C | C123R | 1.000 |
| X:86148988:G:A | C123Y | 1.000 |
| X:86148989:T:G | C123W | 1.000 |
| X:86149003:T:A | V128D | 1.000 |
| X:86149012:T:A | L131H | 1.000 |
| X:86149012:T:C | L131P | 1.000 |
| X:86149030:T:A | I137N | 1.000 |
| X:86149046:C:A | N142K | 1.000 |
| X:86149046:C:G | N142K | 1.000 |
| X:86149050:T:A | C144S | 1.000 |
| X:86149050:T:C | C144R | 1.000 |
| X:86149051:G:A | C144Y | 1.000 |
| X:86149051:G:C | C144S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001044 (X:86453676 T>G), RS1000001647 (X:86504807 T>A), RS1000001842 (X:86340933 A>G), RS1000008373 (X:86530438 T>C), RS1000013553 (X:86397316 T>A), RS1000019318 (X:86634137 C>A,T), RS1000029302 (X:86802508 G>A,T), RS1000039613 (X:86462374 T>C), RS1000048496 (X:86540012 T>C), RS1000049536 (X:86495133 C>T), RS1000054749 (X:86400685 A>G), RS1000065040 (X:86164819 C>G,T), RS1000065757 (X:86811465 T>C), RS1000065875 (X:86704509 C>A,G), RS1000069576 (X:86755893 G>A)
Disease associations
OMIM: gene MIM:300608 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| primary ovarian failure | Limited | Autosomal dominant |
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003991_20 | Childhood ear infection | 4.000000e-07 |
| GCST009391_338 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007904 | susceptibility to childhood ear infection measurement |
| EFO:0010433 | triacylglycerol 56:6 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
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| Aflatoxin B1 | decreases methylation, increases methylation, affects expression | 3 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| methyleugenol | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| manganese chloride | 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 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Manganese | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | decreases 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
- Associated diseases: primary ovarian failure
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): primary ovarian failure