HROB
gene geneOn this page
Also known as MGC3130MCM8IP
Summary
HROB (homologous recombination factor with OB-fold, HGNC:28460) is a protein-coding gene on chromosome 17q21.31, encoding Homologous recombination OB-fold protein (Q8N3J3). DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis.
Predicted to enable single-stranded DNA binding activity. Involved in DNA synthesis involved in DNA repair and interstrand cross-link repair. Located in site of DNA damage.
Source: NCBI Gene 78995 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 20 total — 2 pathogenic
- Phenotypes (HPO): 11
- MANE Select transcript:
NM_001171251
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28460 |
| Approved symbol | HROB |
| Name | homologous recombination factor with OB-fold |
| Location | 17q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3130, MCM8IP |
| Ensembl gene | ENSG00000125319 |
| Ensembl biotype | protein_coding |
| OMIM | 618611 |
| Entrez | 78995 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 28 protein_coding, 2 retained_intron
ENST00000245382, ENST00000319977, ENST00000585683, ENST00000588073, ENST00000588434, ENST00000910121, ENST00000910122, ENST00000910123, ENST00000910124, ENST00000934733, ENST00000934734, ENST00000934735, ENST00000934736, ENST00000934737, ENST00000934738, ENST00000934739, ENST00000934740, ENST00000934741, ENST00000934742, ENST00000934743, ENST00000934744, ENST00000934745, ENST00000934746, ENST00000934747, ENST00000934748, ENST00000934749, ENST00000934750, ENST00000934751, ENST00000934752, ENST00000934753
RefSeq mRNA: 4 — MANE Select: NM_001171251
NM_001171251, NM_001321310, NM_001321311, NM_024032
CCDS: CCDS11477, CCDS59293, CCDS82136
Canonical transcript exons
ENST00000585683 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001118649 | 44145203 | 44145253 |
| ENSE00001260412 | 44154556 | 44154664 |
| ENSE00001260423 | 44152637 | 44152777 |
| ENSE00001260435 | 44150961 | 44151044 |
| ENSE00001390690 | 44147858 | 44149027 |
| ENSE00002843161 | 44141930 | 44142145 |
| ENSE00003509780 | 44155286 | 44155411 |
| ENSE00003607078 | 44154853 | 44154938 |
| ENSE00003656631 | 44157833 | 44157941 |
| ENSE00003692068 | 44161871 | 44162476 |
Expression profiles
Bgee: expression breadth ubiquitous, 162 present calls, max score 88.93.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2791 / max 167.4429, expressed in 1400 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 161111 | 3.3875 | 1108 |
| 161114 | 1.6287 | 750 |
| 161112 | 1.3207 | 600 |
| 161113 | 0.9422 | 460 |
Top tissues by expression
284 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 | 88.93 | gold quality |
| type B pancreatic cell | CL:0000169 | 87.32 | gold quality |
| diaphragm | UBERON:0001103 | 86.55 | gold quality |
| olfactory bulb | UBERON:0002264 | 86.05 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.45 | gold quality |
| oocyte | CL:0000023 | 81.25 | gold quality |
| right testis | UBERON:0004534 | 80.21 | gold quality |
| left testis | UBERON:0004533 | 79.92 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 79.29 | gold quality |
| testis | UBERON:0000473 | 78.85 | gold quality |
| myocardium | UBERON:0002349 | 78.69 | gold quality |
| heart right ventricle | UBERON:0002080 | 77.51 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 77.27 | gold quality |
| ventricular zone | UBERON:0003053 | 76.83 | gold quality |
| vastus lateralis | UBERON:0001379 | 76.38 | gold quality |
| secondary oocyte | CL:0000655 | 76.26 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 76.24 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 76.04 | gold quality |
| quadriceps femoris | UBERON:0001377 | 75.63 | gold quality |
| buccal mucosa cell | CL:0002336 | 75.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 75.09 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.46 | gold quality |
| bone marrow | UBERON:0002371 | 73.98 | gold quality |
| hair follicle | UBERON:0002073 | 73.83 | gold quality |
| gluteal muscle | UBERON:0002000 | 73.41 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 72.94 | gold quality |
| triceps brachii | UBERON:0001509 | 72.75 | gold quality |
| biceps brachii | UBERON:0001507 | 72.65 | gold quality |
| male germ cell | CL:0000015 | 72.39 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 72.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.49 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting HROB, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-3136-3P | 99.57 | 66.59 | 781 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-7515 | 99.31 | 68.22 | 1795 |
| HSA-MIR-7160-5P | 99.11 | 67.17 | 2207 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-9903 | 98.47 | 66.70 | 748 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-624-3P | 98.37 | 67.06 | 1067 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-6847-3P | 96.50 | 67.30 | 582 |
| HSA-MIR-635 | 96.00 | 65.54 | 687 |
| HSA-MIR-6774-5P | 95.94 | 65.18 | 722 |
| HSA-MIR-3193 | 92.99 | 64.93 | 116 |
Literature-anchored findings (GeneRIF, showing 6)
- The C17orf53 SNP rs227584 is associated with human bone density and bone fractures risk. (PMID:30370607)
- C17orf53/HROB is an OB-fold-containing factor involved in HR that acts by recruiting the MCM8-MCM9 helicase to sites of DNA damage to promote DNA synthesis (PMID:31467087)
- MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage. (PMID:32528060)
- C17orf53 is identified as a novel gene involved in inter-strand crosslink repair. (PMID:32853826)
- Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. (PMID:34707299)
- Mechanism of DNA unwinding by MCM8-9 in complex with HROB. (PMID:38678026)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hrob | ENSDARG00000096229 |
| mus_musculus | Hrob | ENSMUSG00000034773 |
| rattus_norvegicus | Hrob | ENSRNOG00000020908 |
Protein
Protein identifiers
Homologous recombination OB-fold protein — Q8N3J3 (reviewed: Q8N3J3)
All UniProt accessions (1): Q8N3J3
UniProt curated annotations — full annotation on UniProt →
Function. DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis. A C-terminal region including the OB-fold stimulates the helicase activity of MCM8-MCM9 probably by altering its conformation.
Subunit / interactions. Interacts with MCM8; this interaction is necessary for MCM8-MCM9 helicase complex recruitment to DNA damage sites. Interacts with the MCM8-MCM9 complex.Interacts with RPA1; this interaction associates HROB with the RPA complex.
Subcellular location. Nucleus. Chromosome.
Disease relevance. Ovarian dysgenesis 11 (ODG11) [MIM:620897] An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N3J3-1 | 1 | yes |
| Q8N3J3-2 | 2 | |
| Q8N3J3-3 | 3 | |
| Q8N3J3-4 | 4 |
RefSeq proteins (4): NP_001164722, NP_001308239, NP_001308240, NP_076937 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR028045 | HROB | Family |
| IPR058570 | HROB_OB | Domain |
Pfam: PF15072
UniProt features (23 total): splice variant 6, modified residue 5, region of interest 4, compositionally biased region 4, sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N3J3-F1 | 55.18 | 0.15 |
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 (5): 285, 295, 329, 337, 47
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 147 (showing top):
GOBP_MALE_GAMETE_GENERATION, IWANAGA_E2F1_TARGETS_INDUCED_BY_SERUM, GOBP_DNA_DAMAGE_RESPONSE, GOBP_DNA_BIOSYNTHETIC_PROCESS, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, GOBP_DNA_SYNTHESIS_INVOLVED_IN_DNA_REPAIR, GOBP_FEMALE_GAMETE_GENERATION, FISCHER_DREAM_TARGETS, GOBP_RECOMBINATIONAL_REPAIR, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOMF_SINGLE_STRANDED_DNA_BINDING, NUYTTEN_EZH2_TARGETS_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GCCNNNWTAAR_UNKNOWN, GOBP_DNA_METABOLIC_PROCESS
GO Biological Process (9): recombinational repair (GO:0000725), DNA synthesis involved in DNA repair (GO:0000731), DNA damage response (GO:0006974), female gamete generation (GO:0007292), interstrand cross-link repair (GO:0036297), male gamete generation (GO:0048232), DNA repair (GO:0006281), DNA recombination (GO:0006310), DNA biosynthetic process (GO:0071897)
GO Molecular Function (3): single-stranded DNA binding (GO:0003697), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), site of DNA damage (GO:0090734), chromosome (GO:0005694)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA repair | 3 |
| DNA metabolic process | 3 |
| gamete generation | 2 |
| DNA recombination | 1 |
| DNA biosynthetic process | 1 |
| cellular response to stress | 1 |
| DNA damage response | 1 |
| nucleic acid biosynthetic process | 1 |
| DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
440 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HROB | A0A494C100 | A0A494C100 | 658 |
| HROB | MCM8 | Q9UJA3 | 658 |
| HROB | ZBTB40 | Q9NUA8 | 530 |
| HROB | TMEM89 | A2RUT3 | 507 |
| HROB | MCM9 | Q9NXL9 | 476 |
| HROB | STARD3NL | O95772 | 447 |
| HROB | FAM199X | Q6PEV8 | 447 |
| HROB | MIMS1 | Q96ND0 | 445 |
| HROB | DCDC1 | P59894 | 433 |
| HROB | GARIN5A | Q6IPT2 | 431 |
| HROB | CCDC170 | Q8IYT3 | 430 |
| HROB | J3KS56 | J3KS56 | 405 |
| HROB | AKAP11 | Q9UKA4 | 399 |
| HROB | EFCC1 | Q9HA90 | 380 |
| HROB | ZNF738 | Q8NE65 | 373 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MSH6 | PCNA | psi-mi:“MI:0914”(association) | 0.530 |
| PIK3R3 | HROB | psi-mi:“MI:0915”(physical association) | 0.370 |
| HROB | PRMT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LRRK2 | TK1 | psi-mi:“MI:0914”(association) | 0.350 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRD2 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRPS2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| HROB | ZPR1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (56): C17orf53 (Two-hybrid), C17orf53 (Affinity Capture-MS), C17orf53 (Affinity Capture-MS), C17orf53 (Affinity Capture-MS), C17orf53 (Affinity Capture-MS), MARS2 (Affinity Capture-MS), ZPR1 (Affinity Capture-MS), C17orf53 (Two-hybrid), C17orf53 (Affinity Capture-MS), C17orf53 (Proximity Label-MS), C17orf53 (Two-hybrid), C17orf53 (Proximity Label-MS), C17orf53 (Proximity Label-MS), C17orf53 (Two-hybrid), C17orf53 (Two-hybrid)
ESM2 similar proteins: A0P8Z5, A2ACJ2, D3YYM4, G3HKI1, G5E8P0, O15040, P97432, Q0VG06, Q13426, Q14159, Q14596, Q1JQA1, Q32P12, Q3KNJ2, Q3T1H6, Q3TAA7, Q3ZBK8, Q3ZK22, Q4AC94, Q501R9, Q52KB6, Q5E9K8, Q5FVL7, Q5FVM3, Q5RA50, Q5RC94, Q5XI52, Q60953, Q6GX86, Q6NV18, Q6P2K3, Q7L4P6, Q810L3, Q86V42, Q8BGX7, Q8BX13, Q8C2A2, Q8C6D4, Q8K015, Q8N3J3
Diamond homologs: Q32P12, Q6GX86, Q8N3J3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3255476 | NM_001171251.3(HROB):c.718C>T (p.Arg240Ter) | Pathogenic |
| 3255477 | NM_001171251.3(HROB):c.1351C>T (p.Arg451Ter) | Pathogenic |
SpliceAI
1910 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:44142142:TATGG:T | donor_loss | 1.0000 |
| 17:44142143:ATGG:A | donor_loss | 1.0000 |
| 17:44142144:TGGT:T | donor_loss | 1.0000 |
| 17:44142145:GGTA:G | donor_loss | 1.0000 |
| 17:44142146:G:GC | donor_loss | 1.0000 |
| 17:44142147:T:A | donor_loss | 1.0000 |
| 17:44150960:GCAGA:G | acceptor_gain | 1.0000 |
| 17:44154550:A:AG | acceptor_gain | 1.0000 |
| 17:44154551:A:G | acceptor_gain | 1.0000 |
| 17:44154663:GG:G | donor_gain | 1.0000 |
| 17:44154664:GG:G | donor_gain | 1.0000 |
| 17:44154847:TTGCA:T | acceptor_loss | 1.0000 |
| 17:44154848:TGCA:T | acceptor_loss | 1.0000 |
| 17:44154849:GCAG:G | acceptor_loss | 1.0000 |
| 17:44154851:A:G | acceptor_loss | 1.0000 |
| 17:44154852:G:T | acceptor_loss | 1.0000 |
| 17:44154852:GGA:G | acceptor_gain | 1.0000 |
| 17:44154936:CAGGT:C | donor_loss | 1.0000 |
| 17:44154937:AGGT:A | donor_loss | 1.0000 |
| 17:44154938:GGT:G | donor_loss | 1.0000 |
| 17:44154939:G:T | donor_loss | 1.0000 |
| 17:44154940:T:A | donor_loss | 1.0000 |
| 17:44155277:T:TA | acceptor_gain | 1.0000 |
| 17:44155283:CAGA:C | acceptor_loss | 1.0000 |
| 17:44155284:A:AG | acceptor_gain | 1.0000 |
| 17:44155284:AGATT:A | acceptor_gain | 1.0000 |
| 17:44155285:G:GA | acceptor_gain | 1.0000 |
| 17:44155285:GA:G | acceptor_gain | 1.0000 |
| 17:44155285:GAT:G | acceptor_gain | 1.0000 |
| 17:44155285:GATT:G | acceptor_gain | 1.0000 |
AlphaMissense
4175 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:44154650:T:C | F516S | 0.997 |
| 17:44154864:G:A | G525R | 0.995 |
| 17:44154864:G:C | G525R | 0.995 |
| 17:44152688:T:A | W454R | 0.994 |
| 17:44152688:T:C | W454R | 0.994 |
| 17:44154864:G:T | G525W | 0.994 |
| 17:44155323:T:A | L562H | 0.994 |
| 17:44154865:G:A | G525E | 0.993 |
| 17:44154925:T:C | L545P | 0.993 |
| 17:44154931:T:C | L547P | 0.993 |
| 17:44155323:T:C | L562P | 0.993 |
| 17:44155329:T:A | V564E | 0.993 |
| 17:44152754:A:C | S476R | 0.992 |
| 17:44152756:C:A | S476R | 0.992 |
| 17:44152756:C:G | S476R | 0.992 |
| 17:44154922:T:A | V544E | 0.991 |
| 17:44155295:T:C | F553L | 0.991 |
| 17:44155297:T:A | F553L | 0.991 |
| 17:44155297:T:G | F553L | 0.991 |
| 17:44148995:T:C | F398L | 0.990 |
| 17:44148996:T:C | F398S | 0.990 |
| 17:44148997:C:A | F398L | 0.990 |
| 17:44148997:C:G | F398L | 0.990 |
| 17:44154587:T:A | V495D | 0.990 |
| 17:44154602:T:A | V500E | 0.990 |
| 17:44155327:C:A | N563K | 0.990 |
| 17:44155327:C:G | N563K | 0.990 |
| 17:44154599:C:A | A499E | 0.989 |
| 17:44155344:T:C | L569P | 0.989 |
| 17:44152690:G:C | W454C | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000279950 (17:44156356 C>G), RS1000500311 (17:44143191 G>T), RS1000529349 (17:44143457 C>T), RS1000580707 (17:44162603 C>T), RS1000594691 (17:44156606 C>G,T), RS1000669610 (17:44156599 G>A), RS1000705193 (17:44149866 G>A,T), RS1000789910 (17:44150097 C>T), RS1001171753 (17:44146119 G>A), RS1001181303 (17:44150317 G>A), RS1001204494 (17:44146558 C>G), RS1001326139 (17:44140002 T>A,C), RS1001614062 (17:44146225 T>G), RS1001624004 (17:44145846 G>C), RS1001842803 (17:44153217 T>A,C)
Disease associations
OMIM: gene MIM:618611 | disease phenotypes: MIM:620897
GenCC curated gene-disease
Mondo (2): premature menopause (MONDO:0001119), ovarian dysgenesis 11 (MONDO:0971176)
Orphanet (0):
HPO phenotypes
11 total (11 of 11 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0003621 | Juvenile onset |
| HP:0008214 | Decreased serum estradiol |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0010463 | Aplasia of the ovary |
| HP:0011969 | Elevated circulating luteinizing hormone level |
| HP:0012569 | Delayed menarche |
| HP:0025708 | Early young adult onset |
| HP:0031103 | Decreased circulating antimullerian hormone circulation |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000297_4 | Bone mineral density (hip) | 9.000000e-07 |
| GCST007691_34 | Femoral neck bone mineral density | 3.000000e-24 |
| GCST008103_24 | Bipolar disorder | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007785 | femoral neck bone mineral density |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008594 | Menopause, Premature | C12.050.351.500.056.630.250; C12.100.250.056.630.250; G08.686.157.500.500; G08.686.841.249.500.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Arsenic | increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cannabidiol | increases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Aflatoxin B1 | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
82 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ovarian dysgenesis 11, premature menopause