FAM120B
geneOn this page
Also known as PGCC1CCPGSAN1
Summary
FAM120B (family with sequence similarity 120 member B, HGNC:21109) is a protein-coding gene on chromosome 6q27, encoding Constitutive coactivator of peroxisome proliferator-activated receptor gamma (Q96EK7). Functions as a transactivator of PPARG and ESR1.
Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus.
Source: NCBI Gene 84498 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 135 total
- MANE Select transcript:
NM_032448
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21109 |
| Approved symbol | FAM120B |
| Name | family with sequence similarity 120 member B |
| Location | 6q27 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PGCC1, CCPG, SAN1 |
| Ensembl gene | ENSG00000112584 |
| Ensembl biotype | protein_coding |
| OMIM | 612266 |
| Entrez | 84498 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000476287, ENST00000496635, ENST00000537664, ENST00000625626, ENST00000630384, ENST00000901517, ENST00000901518, ENST00000901519, ENST00000901520, ENST00000901521, ENST00000901522, ENST00000915624, ENST00000915625, ENST00000915626, ENST00000915627, ENST00000915628, ENST00000966364, ENST00000966365, ENST00000966366, ENST00000966367, ENST00000966368, ENST00000966369, ENST00000966370, ENST00000966371, ENST00000966372, ENST00000966373
RefSeq mRNA: 4 — MANE Select: NM_032448
NM_001286379, NM_001286380, NM_001286381, NM_032448
CCDS: CCDS5314, CCDS69243, CCDS75555, CCDS78200
Canonical transcript exons
ENST00000476287 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001149875 | 170391013 | 170391121 |
| ENSE00001282246 | 170395487 | 170395579 |
| ENSE00001900474 | 170404763 | 170407067 |
| ENSE00002146799 | 170323079 | 170323259 |
| ENSE00002178626 | 170358226 | 170358318 |
| ENSE00002180535 | 170388287 | 170388493 |
| ENSE00002184114 | 170348151 | 170348323 |
| ENSE00003468202 | 170317370 | 170319124 |
| ENSE00003474409 | 170404550 | 170404601 |
| ENSE00003579893 | 170330449 | 170330550 |
| ENSE00003774628 | 170306758 | 170306842 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 90.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.7616 / max 258.3651, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 71294 | 30.4165 | 1813 |
| 71295 | 1.3451 | 778 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 90.40 | gold quality |
| right testis | UBERON:0004534 | 89.33 | gold quality |
| left testis | UBERON:0004533 | 89.18 | gold quality |
| prostate gland | UBERON:0002367 | 88.78 | gold quality |
| testis | UBERON:0000473 | 88.54 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.36 | gold quality |
| tibial nerve | UBERON:0001323 | 88.22 | gold quality |
| endocervix | UBERON:0000458 | 88.08 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 88.03 | gold quality |
| hypothalamus | UBERON:0001898 | 87.97 | gold quality |
| fallopian tube | UBERON:0003889 | 87.97 | gold quality |
| pituitary gland | UBERON:0000007 | 87.95 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 87.94 | gold quality |
| minor salivary gland | UBERON:0001830 | 87.91 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.88 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 87.87 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.81 | gold quality |
| endometrium | UBERON:0001295 | 87.78 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.74 | gold quality |
| cerebellum | UBERON:0002037 | 87.72 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.72 | gold quality |
| corpus callosum | UBERON:0002336 | 87.69 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 87.63 | gold quality |
| stromal cell of endometrium | CL:0002255 | 87.56 | gold quality |
| uterine cervix | UBERON:0000002 | 87.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.54 | gold quality |
| myometrium | UBERON:0001296 | 87.50 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.47 | gold quality |
| left ovary | UBERON:0002119 | 87.45 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting FAM120B, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-548AG | 99.77 | 69.25 | 1492 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-1208 | 99.70 | 68.28 | 1533 |
Literature-anchored findings (GeneRIF, showing 2)
- Study report a previously uncharacterized protein, SAN1, the Fam120b gene product, as a 5’ exonuclease that acts independently of the Fanconi anemia pathway in response to inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1 binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs and is required to prevent cross-link sensitivity. (PMID:29968717)
- San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia. (PMID:34339838)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam120b | ENSDARG00000030804 |
| mus_musculus | Fam120b | ENSMUSG00000014763 |
| rattus_norvegicus | Fam120b | ENSRNOG00000058790 |
Paralogs (2): FAM120A (ENSG00000048828), FAM120C (ENSG00000184083)
Protein
Protein identifiers
Constitutive coactivator of peroxisome proliferator-activated receptor gamma — Q96EK7 (reviewed: Q96EK7)
Alternative names: PPARG constitutive coactivator 1, Protein FAM120B
All UniProt accessions (3): A0A0D9SEJ5, Q96EK7, F5GY05
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation.
Subunit / interactions. Interacts with ESR1 and RXRA. Interacts with PPARG; in a ligand-independent manner.
Subcellular location. Nucleus.
Tissue specificity. Widely expressed.
Similarity. Belongs to the constitutive coactivator of PPAR-gamma family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96EK7-1 | 1 | yes |
| Q96EK7-2 | 2 | |
| Q96EK7-3 | 3 |
RefSeq proteins (4): NP_001273308, NP_001273309, NP_001273310, NP_115824* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026784 | Coact_PPARg | Family |
| IPR029060 | PIN-like_dom_sf | Homologous_superfamily |
UniProt features (21 total): sequence variant 8, compositionally biased region 5, region of interest 3, splice variant 3, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96EK7-F1 | 71.92 | 0.54 |
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): 885
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-381340 | Transcriptional regulation of white adipocyte differentiation |
MSigDB gene sets: 109 (showing top):
REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, CAGCTG_AP4_Q5, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY, chr6q27, PID_RXR_VDR_PATHWAY, KOYAMA_SEMA3B_TARGETS_DN, GOBP_PEROXISOME_PROLIFERATOR_ACTIVATED_RECEPTOR_SIGNALING_PATHWAY, REACTOME_REGULATION_OF_LIPID_METABOLISM_BY_PPARALPHA, REACTOME_METABOLISM_OF_LIPIDS, GSE14415_ACT_VS_CTRL_NATURAL_TREG_DN, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_UP, GSE14415_INDUCED_VS_NATURAL_TREG_UP, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_2H_DN
GO Biological Process (3): peroxisome proliferator activated receptor signaling pathway (GO:0035357), fat cell differentiation (GO:0045444), cell differentiation (GO:0030154)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Regulation of lipid metabolism by PPARalpha | 1 |
| Adipogenesis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear receptor-mediated signaling pathway | 1 |
| cell differentiation | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1232 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM120B | UBR1 | Q8IWV7 | 720 |
| FAM120B | A0A090J7P6 | A0A090J7P6 | 719 |
| FAM120B | ERCC5 | P28715 | 673 |
| FAM120B | MARCHF6 | O60337 | 642 |
| FAM120B | PPARG | P37231 | 639 |
| FAM120B | PSMB1 | P20618 | 606 |
| FAM120B | PDCD2 | Q16342 | 594 |
| FAM120B | ESR1 | P03372 | 582 |
| FAM120B | LTN1 | O94822 | 575 |
| FAM120B | XPR1 | Q9UBH6 | 562 |
| FAM120B | THRB | P10828 | 502 |
| FAM120B | CDC34 | P49427 | 488 |
| FAM120B | ERMARD | Q5T6L9 | 479 |
| FAM120B | WDR27 | A2RRH5 | 477 |
| FAM120B | RPL11 | P25121 | 436 |
IntAct
38 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR20 | USP12 | psi-mi:“MI:0914”(association) | 0.800 |
| TRAF2 | FAM120B | psi-mi:“MI:0915”(physical association) | 0.670 |
| FLCN | ZNF609 | psi-mi:“MI:0914”(association) | 0.530 |
| IMPDH1 | BCAT2 | psi-mi:“MI:0914”(association) | 0.530 |
| DOK2 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| GSTM3 | ECT2L | psi-mi:“MI:0914”(association) | 0.530 |
| LSP1 | FAM120B | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPL30 | FAM120B | psi-mi:“MI:0915”(physical association) | 0.370 |
| FAM120B | psi-mi:“MI:0915”(physical association) | 0.370 | |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| HIF1AN | ARID1A | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| ITM2B | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| SPANXN4 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NXF2B | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJA2 | DENND11 | psi-mi:“MI:0914”(association) | 0.350 |
| FEM1A | RNF113A | psi-mi:“MI:0914”(association) | 0.350 |
| COP1 | SPOP | psi-mi:“MI:0914”(association) | 0.350 |
| MTPN | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| DONSON | HSP90AA5P | psi-mi:“MI:0914”(association) | 0.350 |
| PXDN | TRAF7 | psi-mi:“MI:0914”(association) | 0.350 |
| SURF6 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM133A | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| FEM1A | LAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| EPB41L5 | LIN7A | psi-mi:“MI:0914”(association) | 0.350 |
| ING2 | TNRC18 | psi-mi:“MI:0914”(association) | 0.350 |
| TNFAIP6 | ITIH2 | psi-mi:“MI:0914”(association) | 0.350 |
| TROAP | HARS2 | psi-mi:“MI:0914”(association) | 0.350 |
| STN1 | MTMR3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (54): FAM120B (Two-hybrid), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), SETX (Affinity Capture-Western), TRAF2 (Two-hybrid), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS)
ESM2 similar proteins: A0A087WUL8, A0A0J9YX57, A0A1B0GV03, A2A6M5, A2A9R3, A5A3E0, A6NEF3, A6NI86, A8MZA4, B4DH59, B5DUH6, D3ZVV1, E9Q0N2, H0YKK7, H0YM25, O04492, O18737, P0C6Y7, P0CG38, P0CG39, P0DPF3, P0DX00, P0DX01, P0DX02, Q3BBV2, Q4R914, Q5TAG4, Q5TI25, Q5W0A0, Q6P3W6, Q6RI63, Q6S8J3, Q86T75, Q86X53, Q8HXZ7, Q8HXZ8, Q8HY00, Q8HY01, Q8HY03, Q8HY11
Diamond homologs: A6H7H1, Q5T035, Q6A0A9, Q6DEZ2, Q8C3F2, Q96EK7, Q9NX05, Q9NZB2, A6QNT4, Q6RI63
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
135 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 96 |
| Likely benign | 14 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2667 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:170323077:A:AG | acceptor_gain | 1.0000 |
| 6:170323078:G:GG | acceptor_gain | 1.0000 |
| 6:170323078:GGTT:G | acceptor_gain | 1.0000 |
| 6:170323255:TCAAG:T | donor_loss | 1.0000 |
| 6:170323258:AGGTG:A | donor_loss | 1.0000 |
| 6:170323259:GGTGA:G | donor_loss | 1.0000 |
| 6:170323260:GTG:G | donor_loss | 1.0000 |
| 6:170323261:T:G | donor_loss | 1.0000 |
| 6:170330444:TTCA:T | acceptor_loss | 1.0000 |
| 6:170330446:CA:C | acceptor_loss | 1.0000 |
| 6:170330447:A:AG | acceptor_gain | 1.0000 |
| 6:170330447:AG:A | acceptor_loss | 1.0000 |
| 6:170330448:G:GG | acceptor_gain | 1.0000 |
| 6:170330448:GAT:G | acceptor_gain | 1.0000 |
| 6:170323077:AG:A | acceptor_gain | 0.9900 |
| 6:170323077:AGGTT:A | acceptor_gain | 0.9900 |
| 6:170323078:GG:G | acceptor_gain | 0.9900 |
| 6:170323078:GGTTG:G | acceptor_gain | 0.9900 |
| 6:170330446:CAGA:C | acceptor_gain | 0.9900 |
| 6:170348147:CTA:C | acceptor_loss | 0.9900 |
| 6:170348148:TA:T | acceptor_loss | 0.9900 |
| 6:170348149:A:AC | acceptor_loss | 0.9900 |
| 6:170348150:G:GT | acceptor_loss | 0.9900 |
| 6:170358220:TTTCA:T | acceptor_loss | 0.9900 |
| 6:170358221:TTCA:T | acceptor_loss | 0.9900 |
| 6:170358222:TCAG:T | acceptor_loss | 0.9900 |
| 6:170358223:CAGG:C | acceptor_loss | 0.9900 |
| 6:170358224:A:AC | acceptor_loss | 0.9900 |
| 6:170358303:GCTT:G | donor_gain | 0.9900 |
| 6:170358334:G:GG | donor_gain | 0.9900 |
AlphaMissense
5985 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:170317562:T:A | W58R | 0.998 |
| 6:170317562:T:C | W58R | 0.998 |
| 6:170317580:T:A | W64R | 0.998 |
| 6:170317580:T:C | W64R | 0.998 |
| 6:170317518:T:A | V43D | 0.997 |
| 6:170317691:T:A | W101R | 0.997 |
| 6:170317691:T:C | W101R | 0.997 |
| 6:170317701:G:C | R104P | 0.997 |
| 6:170317521:A:T | D44V | 0.995 |
| 6:170318073:T:C | L228P | 0.995 |
| 6:170330481:T:A | W650R | 0.995 |
| 6:170330481:T:C | W650R | 0.995 |
| 6:170317394:G:C | G2R | 0.994 |
| 6:170317415:T:C | F9L | 0.994 |
| 6:170317417:T:A | F9L | 0.994 |
| 6:170317417:T:G | F9L | 0.994 |
| 6:170317564:G:C | W58C | 0.994 |
| 6:170317564:G:T | W58C | 0.994 |
| 6:170317781:T:C | F131L | 0.994 |
| 6:170317783:C:A | F131L | 0.994 |
| 6:170317783:C:G | F131L | 0.994 |
| 6:170318067:C:A | A226D | 0.994 |
| 6:170317407:T:C | L6S | 0.993 |
| 6:170317416:T:C | F9S | 0.993 |
| 6:170317520:G:C | D44H | 0.993 |
| 6:170317544:T:A | W52R | 0.993 |
| 6:170317544:T:C | W52R | 0.993 |
| 6:170317693:G:C | W101C | 0.993 |
| 6:170317693:G:T | W101C | 0.993 |
| 6:170317824:T:C | L145P | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000009209 (6:170346646 C>G), RS1000039432 (6:170306914 C>T), RS1000045266 (6:170346348 T>A,C), RS1000053028 (6:170296202 G>A), RS1000080221 (6:170296463 G>A), RS1000123893 (6:170321914 CTT>C), RS1000125569 (6:170362425 A>AAG), RS1000143042 (6:170376556 T>A), RS1000171458 (6:170397445 C>T), RS1000240374 (6:170340653 G>A,C), RS1000250855 (6:170400629 A>C,G), RS1000263426 (6:170331019 A>G), RS1000271439 (6:170382809 A>G), RS1000297169 (6:170362247 C>T), RS1000320982 (6:170319348 G>A,T)
Disease associations
OMIM: gene MIM:612266 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): primary ovarian failure (MONDO:0005387), primary amenorrhea (MONDO:1060208)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001255_3 | Type 1 diabetes | 8.000000e-09 |
| GCST005588_31 | Idiopathic dilated cardiomyopathy | 7.000000e-06 |
| GCST006065_19 | Glaucoma (primary open-angle) | 9.000000e-09 |
| GCST007325_94 | General risk tolerance (MTAG) | 1.000000e-10 |
| GCST009191_3 | Paracentral lobule volume | 6.000000e-06 |
| GCST011494_36 | Daytime nap | 9.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009094 | idiopathic dilated cardiomyopathy |
| EFO:0008579 | risk-taking behaviour |
| EFO:0007828 | daytime rest 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
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Curcumin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | decreases expression, affects cotreatment | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
76 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): open-angle glaucoma, primary amenorrhea