ZNF483
geneOn this page
Also known as ZKSCAN16KIAA1962ZSCAN48
Summary
ZNF483 (zinc finger protein 483, HGNC:23384) is a protein-coding gene on chromosome 9q31.3, encoding Zinc finger protein 483 (Q8TF39). May be involved in transcriptional regulation.
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 158399 — RefSeq curated summary.
At a glance
- Gene–disease (curated): primary ovarian failure (Moderate, GenCC)
- GWAS associations: 12
- Clinical variants (ClinVar): 68 total
- MANE Select transcript:
NM_133464
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23384 |
| Approved symbol | ZNF483 |
| Name | zinc finger protein 483 |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZKSCAN16, KIAA1962, ZSCAN48 |
| Ensembl gene | ENSG00000173258 |
| Ensembl biotype | protein_coding |
| Entrez | 158399 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000309235, ENST00000355824, ENST00000358151, ENST00000374374, ENST00000904413, ENST00000904421, ENST00000904425, ENST00000920592, ENST00000920593, ENST00000920594, ENST00000920595
RefSeq mRNA: 2 — MANE Select: NM_133464
NM_001007169, NM_133464
CCDS: CCDS35105, CCDS35106
Canonical transcript exons
ENST00000309235 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001204835 | 111534261 | 111534353 |
| ENSE00001204837 | 111533739 | 111533865 |
| ENSE00001204838 | 111530875 | 111530963 |
| ENSE00001204846 | 111541657 | 111555417 |
| ENSE00001204849 | 111527268 | 111527807 |
| ENSE00001946936 | 111525179 | 111525262 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 99.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2253 / max 3631.4644, expressed in 1029 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98007 | 20.0794 | 1029 |
| 98006 | 0.1459 | 85 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.53 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 99.32 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.29 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.24 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.16 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.10 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.06 | gold quality |
| parietal lobe | UBERON:0001872 | 99.04 | gold quality |
| pons | UBERON:0000988 | 98.91 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.78 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.71 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.61 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.54 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.06 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.05 | gold quality |
| ventral tegmental area | UBERON:0002691 | 97.93 | gold quality |
| corpus epididymis | UBERON:0004359 | 97.30 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 97.23 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.11 | gold quality |
| caput epididymis | UBERON:0004358 | 96.88 | gold quality |
| globus pallidus | UBERON:0001875 | 96.85 | gold quality |
| cauda epididymis | UBERON:0004360 | 96.84 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 96.69 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.63 | gold quality |
| medial globus pallidus | UBERON:0002477 | 96.58 | gold quality |
| corpus callosum | UBERON:0002336 | 96.11 | gold quality |
| adult organism | UBERON:0007023 | 96.08 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.96 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.37 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.18 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-83139 | yes | 2620.82 |
| E-GEOD-109979 | yes | 2010.93 |
| E-ENAD-27 | yes | 1964.43 |
| E-MTAB-5061 | yes | 13.28 |
| E-GEOD-84465 | yes | 6.54 |
| E-GEOD-81547 | yes | 4.93 |
| E-GEOD-70580 | no | 69.12 |
| E-GEOD-81608 | no | 18.93 |
| E-ANND-3 | no | 6.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting ZNF483, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Zkscan16 | ENSMUSG00000038630 |
| rattus_norvegicus | Zkscan16 | ENSRNOG00000084203 |
Paralogs (176): ZNF195 (ENSG00000005801), ZNF112 (ENSG00000062370), ZNF275 (ENSG00000063587), ZNF37A (ENSG00000075407), ZNF510 (ENSG00000081386), ZNF506 (ENSG00000081665), ZNF268 (ENSG00000090612), MZF1 (ENSG00000099326), ZNF629 (ENSG00000102870), ZNF175 (ENSG00000105497), ZNF85 (ENSG00000105750), ZFP30 (ENSG00000120784), ZNF45 (ENSG00000124459), ZNF391 (ENSG00000124613), ZNF436 (ENSG00000125945), ZNF484 (ENSG00000127081), ZNF835 (ENSG00000127903), ZNF780B (ENSG00000128000), ZSCAN10 (ENSG00000130182), ZNF317 (ENSG00000130803), ZNF331 (ENSG00000130844), ZNF227 (ENSG00000131115), ZNF141 (ENSG00000131127), ZNF132 (ENSG00000131849), ZNF189 (ENSG00000136870), ZIM3 (ENSG00000141946), ZFP14 (ENSG00000142065), ZNF514 (ENSG00000144026), ZNF300 (ENSG00000145908), RBAK (ENSG00000146587), ZNF157 (ENSG00000147117), ZNF182 (ENSG00000147118), ZNF41 (ENSG00000147124), ZNF7 (ENSG00000147789), ZNF117 (ENSG00000152926), ZNF221 (ENSG00000159905), ZNF235 (ENSG00000159917), ZNF714 (ENSG00000160352), ZNF577 (ENSG00000161551), ZNF12 (ENSG00000164631)
Protein
Protein identifiers
Zinc finger protein 483 — Q8TF39 (reviewed: Q8TF39)
Alternative names: Zinc finger protein with KRAB and SCAN domains 16
All UniProt accessions (3): Q8TF39, Q5VZN3, Q6P088
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in transcriptional regulation.
Subcellular location. Nucleus.
Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TF39-1 | 1 | yes |
| Q8TF39-2 | 2 |
RefSeq proteins (2): NP_001007170, NP_597721* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR003309 | SCAN_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR038269 | SCAN_sf | Homologous_superfamily |
| IPR050752 | C2H2-ZF_domain | Family |
Pfam: PF00096, PF01352, PF02023
UniProt features (28 total): zinc finger region 11, strand 4, region of interest 3, compositionally biased region 3, domain 2, splice variant 2, chain 1, sequence conflict 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2CTU | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TF39-F1 | 64.91 | 0.04 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 78 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOZGIT_ESR1_TARGETS_DN, CHANDRAN_METASTASIS_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, RICKMAN_HEAD_AND_NECK_CANCER_A, SABATES_COLORECTAL_ADENOMA_DN, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, LU_EZH2_TARGETS_DN, GRYDER_PAX3FOXO1_ENHANCERS_KO_DOWN, ZWANG_DOWN_BY_2ND_EGF_PULSE, E2F3_UP.V1_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, TFEB_TARGET_GENES, MIR8485
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase II Transcription | 1 |
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 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 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 |
| transition metal ion binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
626 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF483 | ZNF462 | Q96JM2 | 684 |
| ZNF483 | TMEM80 | Q96HE8 | 529 |
| ZNF483 | PLEKHG7 | Q6ZR37 | 431 |
| ZNF483 | WDR37 | Q9Y2I8 | 412 |
| ZNF483 | GBP1 | P32455 | 408 |
| ZNF483 | SMTNL2 | Q2TAL5 | 403 |
| ZNF483 | KDM3B | Q7LBC6 | 403 |
| ZNF483 | RBM48 | Q5RL73 | 398 |
| ZNF483 | MKRN3 | Q13064 | 396 |
| ZNF483 | RMND5A | Q9H871 | 394 |
| ZNF483 | ZNHIT3 | Q15649 | 385 |
| ZNF483 | JHY | Q6NUN7 | 378 |
| ZNF483 | TMEM213 | A2RRL7 | 378 |
| ZNF483 | CLXN | Q9HAE3 | 362 |
| ZNF483 | KISS1R | Q969F8 | 360 |
IntAct
49 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF483 | ZNF197 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF18 | ZMYM6 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| VTN | HAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF483 | ZSCAN22 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCDC59 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| VTN | HAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| C6orf11 | RRP8 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX5 | ZNF568 | psi-mi:“MI:0914”(association) | 0.350 |
| SCRIB | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| PURG | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF467 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| GOLGA8A | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LTBP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL36 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL28 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ABT1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ADARB1 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL10 | psi-mi:“MI:0914”(association) | 0.350 | |
| PNMA8A | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| FGF13 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (82): ZNF483 (Two-hybrid), ZNF483 (Two-hybrid), ZNF483 (Two-hybrid), ZNF483 (Two-hybrid), ZNF483 (Two-hybrid), ZSCAN22 (Two-hybrid), ZYG11A (Affinity Capture-MS), TRIM24 (Affinity Capture-MS), ZKSCAN3 (Affinity Capture-MS), ZKSCAN4 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF197 (Affinity Capture-MS), ZNF483 (Affinity Capture-MS), SCAND1 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS)
ESM2 similar proteins: A0JPL0, A3KN36, A7MBI1, A8MT65, B2RXC5, D3ZVT0, P08042, P21506, P51508, P52738, Q02525, Q06730, Q12901, Q2KI58, Q2M218, Q2M3W8, Q2M3X9, Q2VY69, Q49AA0, Q4R6J4, Q4V8A8, Q5FWF6, Q5HY98, Q5RB33, Q5RC79, Q5REF1, Q5T5D7, Q5VIY5, Q61967, Q6P2D0, Q6ZN11, Q86XU0, Q86Y25, Q8N782, Q8N859, Q8NB42, Q8TF39, Q8TF47, Q8WXB4, Q95K49
Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of miRNA transcription | 5 | 33.8× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 10 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1269 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:111530962:GT:G | donor_gain | 1.0000 |
| 9:111530964:G:GG | donor_gain | 1.0000 |
| 9:111534254:T:G | acceptor_gain | 1.0000 |
| 9:111570086:CTTA:C | donor_loss | 1.0000 |
| 9:111570087:TTAC:T | donor_loss | 1.0000 |
| 9:111570088:TA:T | donor_loss | 1.0000 |
| 9:111570089:A:AC | donor_gain | 1.0000 |
| 9:111570090:C:CC | donor_gain | 1.0000 |
| 9:111570090:CCT:C | donor_gain | 1.0000 |
| 9:111570210:C:CC | acceptor_gain | 1.0000 |
| 9:111574839:CTAC:C | acceptor_gain | 1.0000 |
| 9:111525678:T:TA | acceptor_gain | 0.9900 |
| 9:111527266:A:AG | acceptor_gain | 0.9900 |
| 9:111527267:G:GA | acceptor_gain | 0.9900 |
| 9:111533826:G:GT | donor_gain | 0.9900 |
| 9:111533864:GG:G | donor_gain | 0.9900 |
| 9:111533865:GG:G | donor_gain | 0.9900 |
| 9:111534253:A:AG | acceptor_gain | 0.9900 |
| 9:111534254:T:TA | acceptor_gain | 0.9900 |
| 9:111570205:TGGGC:T | acceptor_gain | 0.9900 |
| 9:111570206:GGGC:G | acceptor_gain | 0.9900 |
| 9:111570207:GGC:G | acceptor_gain | 0.9900 |
| 9:111570208:GC:G | acceptor_gain | 0.9900 |
| 9:111570209:CC:C | acceptor_gain | 0.9900 |
| 9:111570210:CT:C | acceptor_loss | 0.9900 |
| 9:111570211:T:G | acceptor_loss | 0.9900 |
| 9:111574728:CATTA:C | donor_loss | 0.9900 |
| 9:111574730:TTA:T | donor_loss | 0.9900 |
| 9:111574731:TA:T | donor_loss | 0.9900 |
| 9:111574732:ACCTG:A | donor_loss | 0.9900 |
AlphaMissense
4925 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:111542949:T:C | F672L | 1.000 |
| 9:111542951:C:A | F672L | 1.000 |
| 9:111542951:C:G | F672L | 1.000 |
| 9:111542445:T:C | F504L | 0.999 |
| 9:111542447:C:A | F504L | 0.999 |
| 9:111542447:C:G | F504L | 0.999 |
| 9:111542529:T:C | F532L | 0.999 |
| 9:111542531:T:A | F532L | 0.999 |
| 9:111542531:T:G | F532L | 0.999 |
| 9:111542613:T:C | F560L | 0.999 |
| 9:111542615:C:A | F560L | 0.999 |
| 9:111542615:C:G | F560L | 0.999 |
| 9:111542697:T:C | F588L | 0.999 |
| 9:111542699:T:A | F588L | 0.999 |
| 9:111542699:T:G | F588L | 0.999 |
| 9:111542865:T:C | F644L | 0.999 |
| 9:111542867:C:A | F644L | 0.999 |
| 9:111542867:C:G | F644L | 0.999 |
| 9:111542950:T:C | F672S | 0.999 |
| 9:111542983:G:C | R683P | 0.999 |
| 9:111543033:T:C | F700L | 0.999 |
| 9:111543035:T:A | F700L | 0.999 |
| 9:111543035:T:G | F700L | 0.999 |
| 9:111542361:T:C | F476L | 0.998 |
| 9:111542363:T:A | F476L | 0.998 |
| 9:111542363:T:G | F476L | 0.998 |
| 9:111542446:T:C | F504S | 0.998 |
| 9:111542558:T:A | H541Q | 0.998 |
| 9:111542558:T:G | H541Q | 0.998 |
| 9:111542698:T:C | F588S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000032156 (9:111567663 T>C), RS1000052345 (9:111525681 T>C), RS1000083892 (9:111567971 G>T), RS1000088513 (9:111554439 C>G,T), RS1000300035 (9:111555015 G>A), RS1000331823 (9:111562164 C>T), RS1000455626 (9:111548701 T>C), RS1000495340 (9:111530311 G>A), RS1000741003 (9:111535900 C>A,T), RS1000760558 (9:111537244 CAG>C), RS1000824669 (9:111536117 C>T), RS1000850591 (9:111559826 A>G,T), RS1000875778 (9:111567380 G>A,C,T), RS1000913972 (9:111553177 A>C,G), RS1000917557 (9:111559745 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| primary ovarian failure | Moderate | Autosomal dominant |
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_11 | Menarche (age at onset) | 4.000000e-11 |
| GCST001876_12 | Pubertal anthropometrics | 3.000000e-06 |
| GCST001876_5 | Pubertal anthropometrics | 2.000000e-07 |
| GCST001973_13 | Menarche (age at onset) | 2.000000e-06 |
| GCST001973_5 | Menarche (age at onset) | 4.000000e-15 |
| GCST002541_77 | Menarche (age at onset) | 1.000000e-08 |
| GCST002541_78 | Menarche (age at onset) | 2.000000e-23 |
| GCST003993_7 | Menarche (age at onset) | 2.000000e-08 |
| GCST003994_3 | Age at voice drop | 1.000000e-07 |
| GCST008839_468 | Height | 2.000000e-20 |
| GCST008839_537 | Height | 4.000000e-07 |
| GCST010241_227 | Apolipoprotein A1 levels | 2.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0001382 | puberty |
| EFO:0007888 | age at voice drop |
| EFO:0004614 | apolipoprotein A 1 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
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Panobinostat | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| kojic acid | decreases expression | 1 |
| arsenite | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Asbestos, Serpentine | decreases expression | 1 |
| Asbestos, Crocidolite | decreases expression | 1 |
| Cadmium Chloride | 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
- 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