ZNF92
geneOn this page
Also known as HPF12TF12
Summary
ZNF92 (zinc finger protein 92, HGNC:13168) is a protein-coding gene on chromosome 7q11.21, encoding Zinc finger protein 92 (Q03936). 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 DNA-templated transcription. Predicted to be located in nucleus.
Source: NCBI Gene 168374 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total
- MANE Select transcript:
NM_152626
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13168 |
| Approved symbol | ZNF92 |
| Name | zinc finger protein 92 |
| Location | 7q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HPF12, TF12 |
| Ensembl gene | ENSG00000146757 |
| Ensembl biotype | protein_coding |
| OMIM | 603974 |
| Entrez | 168374 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000328747, ENST00000357512, ENST00000431504, ENST00000450302, ENST00000488849
RefSeq mRNA: 5 — MANE Select: NM_152626
NM_001287532, NM_001287533, NM_001287534, NM_007139, NM_152626
CCDS: CCDS34646, CCDS47596, CCDS75608, CCDS75609
Canonical transcript exons
ENST00000328747 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000000232 | 65373855 | 65374000 |
| ENSE00002440765 | 65387902 | 65388028 |
| ENSE00003640453 | 65388806 | 65388901 |
| ENSE00003670691 | 65398341 | 65401136 |
Expression profiles
Bgee: expression breadth ubiquitous, 250 present calls, max score 89.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0898 / max 474.9734, expressed in 1754 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78834 | 13.4186 | 1696 |
| 78835 | 11.1565 | 1466 |
| 204460 | 0.5147 | 271 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 89.52 | silver quality |
| cortical plate | UBERON:0005343 | 89.49 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.43 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.89 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 86.18 | silver quality |
| ventricular zone | UBERON:0003053 | 85.43 | gold quality |
| amniotic fluid | UBERON:0000173 | 84.57 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 84.19 | gold quality |
| bone marrow | UBERON:0002371 | 82.79 | gold quality |
| oocyte | CL:0000023 | 82.69 | gold quality |
| oviduct epithelium | UBERON:0004804 | 82.17 | gold quality |
| adrenal tissue | UBERON:0018303 | 82.01 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.98 | gold quality |
| lymph node | UBERON:0000029 | 81.05 | gold quality |
| buccal mucosa cell | CL:0002336 | 80.57 | gold quality |
| bone marrow cell | CL:0002092 | 80.31 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 80.06 | gold quality |
| mammary duct | UBERON:0001765 | 80.02 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 79.93 | gold quality |
| thymus | UBERON:0002370 | 79.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.65 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 79.65 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.35 | gold quality |
| secondary oocyte | CL:0000655 | 78.75 | gold quality |
| leukocyte | CL:0000738 | 78.50 | gold quality |
| monocyte | CL:0000576 | 78.17 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.90 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 77.61 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 77.60 | gold quality |
| endometrium | UBERON:0001295 | 77.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
80 targeting ZNF92, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000099025 |
Paralogs (18): ZNF430 (ENSG00000118620), ZNF66 (ENSG00000160229), ZNF22 (ENSG00000165512), ZNF680 (ENSG00000173041), ZNF114 (ENSG00000178150), ZFP41 (ENSG00000181638), ZNF730 (ENSG00000183850), ZNF479 (ENSG00000185177), ZNF626 (ENSG00000188171), ZNF431 (ENSG00000196705), ZNF100 (ENSG00000197020), ZNF257 (ENSG00000197134), ZNF98 (ENSG00000197360), ZNF675 (ENSG00000197372), ZNF273 (ENSG00000198039), ZNF737 (ENSG00000237440), ZNF253 (ENSG00000256771), ZNF723 (ENSG00000268696)
Protein
Protein identifiers
Zinc finger protein 92 — Q03936 (reviewed: Q03936)
Alternative names: Zinc finger protein HTF12
All UniProt accessions (3): Q03936, C9IZS8, V9HVY7
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 (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q03936-1 | 1 | yes |
| Q03936-2 | 2 | |
| Q03936-3 | 3 |
RefSeq proteins (5): NP_001274461, NP_001274462, NP_001274463, NP_009070, NP_689839* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001909 | KRAB | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036051 | KRAB_dom_sf | Homologous_superfamily |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
Pfam: PF00096, PF01352
UniProt features (24 total): zinc finger region 16, sequence variant 3, splice variant 2, chain 1, domain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q03936-F1 | 71.94 | 0.10 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-212436 | Generic Transcription Pathway |
MSigDB gene sets: 74 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, chr7q11, DOUGLAS_BMI1_TARGETS_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ASH1L_TARGET_GENES, RYBP_TARGET_GENES
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (7): 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 transcription factor activity (GO:0003700), 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 |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 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 |
| transcription cis-regulatory region binding | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription regulator activity | 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
598 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZNF92 | TACSTD2 | P09758 | 725 |
| ZNF92 | MLX | Q9UH92 | 644 |
| ZNF92 | LHFPL7 | Q6ICI0 | 493 |
| ZNF92 | CREB1 | P16220 | 427 |
| ZNF92 | PPP2R5C | Q13362 | 409 |
| ZNF92 | KRTAP1-1 | Q07627 | 372 |
| ZNF92 | OR5H14 | A6NHG9 | 370 |
| ZNF92 | NTRK1 | P04629 | 359 |
| ZNF92 | ERVV-1 | B6SEH8 | 356 |
| ZNF92 | ERVMER34-1 | Q9H9K5 | 331 |
| ZNF92 | CLHC1 | Q8NHS4 | 323 |
| ZNF92 | CIROZ | Q8N9H9 | 321 |
| ZNF92 | KRTAP1-5 | Q9BYS1 | 314 |
| ZNF92 | OR5A1 | Q8NGJ0 | 311 |
| ZNF92 | ZNF43 | P17038 | 309 |
IntAct
61 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF92 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM28 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM44 | ODAD3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF707 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF169 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMM50 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHL40 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF223 | CENPB | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF764 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.530 |
| TRIM28 | ZNF320 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF92 | GAPDH | psi-mi:“MI:0915”(physical association) | 0.400 |
| CREB1 | ZNF92 | psi-mi:“MI:0915”(physical association) | 0.370 |
| STAT6 | ZNF92 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECE1 | ZNF92 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPL27A | ZNF320 | 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 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZKSCAN8 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF460 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| LTBP2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| SPANXN2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF550 | MEIOC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (73): ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS), ZNF92 (Affinity Capture-MS)
ESM2 similar proteins: A6NK75, A6NNF4, A6NP11, A8MTY0, B4DXR9, C9JN71, O75346, O75373, O75437, O95780, P0CJ79, P0DKX0, P0DPD5, P17017, P17019, P17035, P17038, P35789, Q03923, Q03924, Q03936, Q03938, Q08AN1, Q5MCW4, Q5R9F0, Q5SXM1, Q68DY1, Q6JLC9, Q6P5C7, Q6ZMV8, Q6ZN06, Q6ZN08, Q6ZNA1, Q6ZNG1, Q76KX8, Q86V71, Q86XN6, Q8IYB9, Q8IYN0, Q8N4W9
Diamond homologs: A0A1W2PQL4, A6NK75, A6NN14, A6NNF4, A6NP11, A8MQ14, A8MTY0, A8MUV8, A8MXY4, B4DX44, B4DXR9, E9PYI1, O14628, O43345, O75290, O75346, O75373, O75437, O95780, P0CB33, P0DKX0, P0DPD5, P16373, P17019, P17038, P21506, P35789, P52736, P52738, P52744, Q03923, Q03924, Q03936, Q03938, Q05481, Q14586, Q14593, Q14929, Q15928, Q3KNS6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Peptide chain elongation | 6 | 14.9× | 2e-04 |
| Viral mRNA Translation | 6 | 14.9× | 2e-04 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 6 | 14.8× | 2e-04 |
| Selenocysteine synthesis | 6 | 14.1× | 2e-04 |
| Eukaryotic Translation Termination | 6 | 14.1× | 2e-04 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 6 | 13.8× | 2e-04 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 6 | 13.8× | 2e-04 |
| Formation of a pool of free 40S subunits | 6 | 13.2× | 2e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 6 | 15.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
611 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:65373966:C:G | donor_gain | 1.0000 |
| 7:65374000:GGT:G | donor_loss | 1.0000 |
| 7:65374001:GTGA:G | donor_loss | 1.0000 |
| 7:65398337:TCAGT:T | acceptor_loss | 1.0000 |
| 7:65398338:CAGTT:C | acceptor_loss | 1.0000 |
| 7:65398339:A:AG | acceptor_gain | 1.0000 |
| 7:65398339:AGTT:A | acceptor_loss | 1.0000 |
| 7:65398340:G:GC | acceptor_gain | 1.0000 |
| 7:65398340:GT:G | acceptor_gain | 1.0000 |
| 7:65398340:GTT:G | acceptor_gain | 1.0000 |
| 7:65398340:GTTA:G | acceptor_gain | 1.0000 |
| 7:65398340:GTTAT:G | acceptor_gain | 1.0000 |
| 7:65373987:G:GT | donor_gain | 0.9900 |
| 7:65373999:TG:T | donor_gain | 0.9900 |
| 7:65374000:GG:G | donor_gain | 0.9900 |
| 7:65374001:G:GG | donor_gain | 0.9900 |
| 7:65388801:AACAG:A | acceptor_loss | 0.9900 |
| 7:65388803:CA:C | acceptor_loss | 0.9900 |
| 7:65388804:AGGTA:A | acceptor_loss | 0.9900 |
| 7:65388805:GGT:G | acceptor_gain | 0.9900 |
| 7:65388898:CCAGG:C | donor_loss | 0.9900 |
| 7:65388900:AGG:A | donor_loss | 0.9900 |
| 7:65388901:GGTA:G | donor_loss | 0.9900 |
| 7:65388902:G:GA | donor_loss | 0.9900 |
| 7:65388903:TAGG:T | donor_loss | 0.9900 |
| 7:65373998:ATG:A | donor_gain | 0.9800 |
| 7:65388796:A:AG | acceptor_gain | 0.9800 |
| 7:65388799:A:AG | acceptor_gain | 0.9800 |
| 7:65388804:A:AG | acceptor_gain | 0.9700 |
| 7:65388805:G:GG | acceptor_gain | 0.9700 |
AlphaMissense
3925 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:65399330:T:C | F406L | 0.990 |
| 7:65399332:T:A | F406L | 0.990 |
| 7:65399332:T:G | F406L | 0.990 |
| 7:65398910:T:C | F266L | 0.978 |
| 7:65398912:T:A | F266L | 0.978 |
| 7:65398912:T:G | F266L | 0.978 |
| 7:65399162:T:C | F350L | 0.977 |
| 7:65399164:T:A | F350L | 0.977 |
| 7:65399164:T:G | F350L | 0.977 |
| 7:65399414:T:C | F434L | 0.976 |
| 7:65399416:T:A | F434L | 0.976 |
| 7:65399416:T:G | F434L | 0.976 |
| 7:65399246:T:C | F378L | 0.975 |
| 7:65399248:T:A | F378L | 0.975 |
| 7:65399248:T:G | F378L | 0.975 |
| 7:65398826:T:C | F238L | 0.970 |
| 7:65398828:T:A | F238L | 0.970 |
| 7:65398828:T:G | F238L | 0.970 |
| 7:65399078:T:C | F322L | 0.968 |
| 7:65399080:T:A | F322L | 0.968 |
| 7:65399080:T:G | F322L | 0.968 |
| 7:65399349:T:C | L412P | 0.965 |
| 7:65398994:T:C | F294L | 0.964 |
| 7:65398996:T:A | F294L | 0.964 |
| 7:65398996:T:G | F294L | 0.964 |
| 7:65387935:T:C | F13L | 0.963 |
| 7:65387937:C:A | F13L | 0.963 |
| 7:65387937:C:G | F13L | 0.963 |
| 7:65399359:T:A | H415Q | 0.961 |
| 7:65399359:T:G | H415Q | 0.961 |
dbSNP variants (sampled 300 via entrez): RS1000028222 (7:65379380 T>C), RS1000106137 (7:65377994 G>C), RS1000115516 (7:65394599 T>C,G), RS1000160015 (7:65384625 C>T), RS1000301266 (7:65387393 C>G), RS1000311359 (7:65375580 T>C), RS1000385832 (7:65373017 A>G), RS1000523109 (7:65394160 T>A), RS1000582891 (7:65389297 A>G), RS1000648922 (7:65376931 G>A,T), RS1000660136 (7:65376583 A>G,T), RS1000762180 (7:65383197 T>G), RS1000921157 (7:65382809 C>G), RS1001080812 (7:65400558 A>G), RS1001297122 (7:65386072 T>C)
Disease associations
OMIM: gene MIM:603974 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): primary ovarian failure (MONDO:0005387)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
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
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 4 |
| Valproic Acid | decreases expression | 3 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| TAK-243 | affects sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| pinosylvin | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Gold | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): primary ovarian failure