GTF2H2C
gene geneOn this page
Summary
GTF2H2C (GTF2H2 family member C, HGNC:31394) is a protein-coding gene on chromosome 5q13.2, encoding General transcription factor IIH subunit 2-like protein (Q6P1K8). Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
Enables RNA polymerase II general transcription initiation factor activity. Involved in G protein-coupled receptor internalization and transcription initiation at RNA polymerase II promoter. Located in nuclear speck. Part of core TFIIH complex portion of holo TFIIH complex and transcription factor TFIID complex.
Source: NCBI Gene 728340 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 5 total
- MANE Select transcript:
NM_001376000
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31394 |
| Approved symbol | GTF2H2C |
| Name | GTF2H2 family member C |
| Location | 5q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000183474 |
| Ensembl biotype | protein_coding |
| Entrez | 728340 |
Gene structure
Transcript identifiers
Ensembl transcripts: 32 — 22 protein_coding, 4 nonsense_mediated_decay, 4 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000380729, ENST00000446221, ENST00000502599, ENST00000502619, ENST00000503604, ENST00000505737, ENST00000506129, ENST00000507595, ENST00000508325, ENST00000510979, ENST00000511629, ENST00000512736, ENST00000513959, ENST00000514069, ENST00000514162, ENST00000877333, ENST00000877334, ENST00000877335, ENST00000877336, ENST00000877337, ENST00000877338, ENST00000877339, ENST00000911365, ENST00000911366, ENST00000911367, ENST00000962641, ENST00000962642, ENST00000962643, ENST00000962644, ENST00000962645, ENST00000962646, ENST00000962647
RefSeq mRNA: 9 — MANE Select: NM_001376000
NM_001098728, NM_001375998, NM_001375999, NM_001376000, NM_001376001, NM_001376002, NM_001376003, NM_001376005, NM_001376006
CCDS: CCDS43325
Canonical transcript exons
ENST00000380729 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001669926 | 69562673 | 69562770 |
| ENSE00002020622 | 69592079 | 69595221 |
| ENSE00003459876 | 69566967 | 69567053 |
| ENSE00003461104 | 69586254 | 69586356 |
| ENSE00003500955 | 69572445 | 69572550 |
| ENSE00003502052 | 69579021 | 69579108 |
| ENSE00003521738 | 69566589 | 69566625 |
| ENSE00003548190 | 69566131 | 69566208 |
| ENSE00003559216 | 69567727 | 69567777 |
| ENSE00003571433 | 69568153 | 69568207 |
| ENSE00003632837 | 69585594 | 69585697 |
| ENSE00003644836 | 69590328 | 69590367 |
| ENSE00003655954 | 69565100 | 69565188 |
| ENSE00003668680 | 69582366 | 69582429 |
| ENSE00003671763 | 69579757 | 69579864 |
| ENSE00003686073 | 69578712 | 69578802 |
| ENSE00003905674 | 69560191 | 69560403 |
Expression profiles
Bgee: expression breadth ubiquitous, 261 present calls, max score 95.13.
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 95.13 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.96 | gold quality |
| ventricular zone | UBERON:0003053 | 89.50 | gold quality |
| monocyte | CL:0000576 | 89.38 | gold quality |
| mononuclear cell | CL:0000842 | 89.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.97 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.85 | gold quality |
| parietal lobe | UBERON:0001872 | 88.82 | gold quality |
| leukocyte | CL:0000738 | 88.62 | gold quality |
| corpus callosum | UBERON:0002336 | 88.07 | gold quality |
| islet of Langerhans | UBERON:0000006 | 87.88 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.16 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.44 | gold quality |
| right ovary | UBERON:0002118 | 86.38 | gold quality |
| endocervix | UBERON:0000458 | 86.04 | gold quality |
| body of pancreas | UBERON:0001150 | 86.00 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 85.67 | gold quality |
| pancreas | UBERON:0001264 | 85.62 | gold quality |
| cortical plate | UBERON:0005343 | 85.57 | gold quality |
| left uterine tube | UBERON:0001303 | 85.13 | gold quality |
| thyroid gland | UBERON:0002046 | 85.00 | gold quality |
| body of uterus | UBERON:0009853 | 84.96 | gold quality |
| left ovary | UBERON:0002119 | 84.81 | gold quality |
| blood | UBERON:0000178 | 84.80 | gold quality |
| ectocervix | UBERON:0012249 | 84.78 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.68 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.53 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.34 |
| E-MTAB-7303 | no | 14.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting GTF2H2C, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-4735-5P | 99.43 | 68.49 | 1780 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-888-5P | 99.30 | 70.15 | 1855 |
| HSA-MIR-6807-3P | 99.15 | 69.23 | 1275 |
| HSA-MIR-4504 | 99.10 | 69.14 | 1328 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-4680-3P | 98.64 | 68.60 | 2093 |
| HSA-MIR-5089-5P | 98.45 | 66.06 | 1388 |
| HSA-MIR-4684-3P | 98.24 | 69.91 | 1075 |
| HSA-MIR-550B-3P | 95.43 | 67.73 | 599 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gtf2h2 | ENSDARG00000016514 |
| mus_musculus | Gtf2h2 | ENSMUSG00000021639 |
| rattus_norvegicus | Gtf2h2 | ENSRNOG00000018230 |
| drosophila_melanogaster | Ssl1 | FBGN0037202 |
| caenorhabditis_elegans | WBGENE00011814 |
Paralogs (1): GTF2H2 (ENSG00000145736)
Protein
Protein identifiers
General transcription factor IIH subunit 2-like protein — Q6P1K8 (reviewed: Q6P1K8)
Alternative names: General transcription factor IIH polypeptide 2-like protein
All UniProt accessions (6): D6RAW1, D6RGC9, D6RID8, D6RIT7, D6RJD3, Q6P1K8
UniProt curated annotations — full annotation on UniProt →
Function. Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.
Subcellular location. Nucleus.
Similarity. Belongs to the GTF2H2 family.
RefSeq proteins (9): NP_001092198, NP_001362927, NP_001362928, NP_001362929, NP_001362930, NP_001362931, NP_001362932, NP_001362934, NP_001362935 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002035 | VWF_A | Domain |
| IPR004595 | TFIIH_C1-like_dom | Domain |
| IPR007198 | Ssl1-like | Domain |
| IPR012170 | TFIIH_SSL1/p44 | Family |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036465 | vWFA_dom_sf | Homologous_superfamily |
| IPR046349 | C1-like_sf | Homologous_superfamily |
Pfam: PF04056, PF07975
UniProt features (5 total): chain 1, domain 1, zinc finger region 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P1K8-F1 | 84.05 | 0.49 |
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): 95
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 51 (showing top):
GOBP_NUCLEOTIDE_EXCISION_REPAIR, SMID_BREAST_CANCER_LUMINAL_B_UP, GOBP_DNA_DAMAGE_RESPONSE, KIM_GERMINAL_CENTER_T_HELPER_UP, GOCC_RNA_POLYMERASE_COMPLEX, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_RNA_POLYMERASE_II_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_CYCLIN_DEPENDENT_PROTEIN_KINASE_HOLOENZYME_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOCC_NUCLEAR_BODY, GOCC_PROTEIN_KINASE_COMPLEX, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX
GO Biological Process (5): nucleotide-excision repair (GO:0006289), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), DNA repair (GO:0006281), DNA damage response (GO:0006974)
GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): transcription factor TFIIH core complex (GO:0000439), transcription factor TFIIH holo complex (GO:0005675), nuclear speck (GO:0016607), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA polymerase II transcription regulator complex | 2 |
| DNA repair | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| transition metal ion binding | 1 |
| binding | 1 |
| cation binding | 1 |
| transcription factor TFIIH core complex | 1 |
| RNA polymerase II, holoenzyme | 1 |
| nuclear cyclin-dependent protein kinase holoenzyme complex | 1 |
| carboxy-terminal domain protein kinase complex | 1 |
| nuclear ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
862 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GTF2H2C | GTF2H3 | Q13889 | 797 |
| GTF2H2C | GTF2H1 | P32780 | 770 |
| GTF2H2C | ERCC3 | P19447 | 754 |
| GTF2H2C | GTF2H4 | Q92759 | 738 |
| GTF2H2C | ERCC8 | Q13216 | 684 |
| GTF2H2C | ERCC1 | P07992 | 671 |
| GTF2H2C | SERF1A | O75920 | 583 |
| GTF2H2C | ERCC2 | P18074 | 572 |
| GTF2H2C | MNAT1 | P51948 | 542 |
| GTF2H2C | CDK7 | P50613 | 530 |
| GTF2H2C | NAIP | Q13075 | 506 |
| GTF2H2C | FAM72B | Q86X60 | 474 |
| GTF2H2C | SMN1 | Q16637 | 474 |
| GTF2H2C | DHRS4L2 | Q6PKH6 | 473 |
| GTF2H2C | TCAF1 | Q9Y4C2 | 461 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GTF2H1 | CDK7 | psi-mi:“MI:0915”(physical association) | 0.820 |
| GTF2H3 | GTF2H2C | psi-mi:“MI:0915”(physical association) | 0.800 |
| GTF2H2C | GTF2H3 | psi-mi:“MI:0915”(physical association) | 0.800 |
| GTF2H3 | ERCC3 | psi-mi:“MI:0914”(association) | 0.640 |
| ERCC2 | GTF2H2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| DZIP3 | GTF2H2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2H2C | ERCC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2H2C | DZIP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2H2C | FAM43A | psi-mi:“MI:0915”(physical association) | 0.560 |
| NR5A2 | GTF2H2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2H2C | NTAQ1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GTF2H2C | ERCC3 | psi-mi:“MI:0914”(association) | 0.530 |
| DYNLRB2 | PAFAH1B1 | psi-mi:“MI:0914”(association) | 0.510 |
| SUV39H1 | GTF2H2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC40 | VAPB | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GTF2H2C | GTF2H2C | psi-mi:“MI:0914”(association) | 0.350 |
| PRDM11 | ERCC3 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK7 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| CDC7 | ERCC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK7 | ERCC1 | psi-mi:“MI:0914”(association) | 0.350 |
| GTF2H4 | TUSC2 | psi-mi:“MI:0914”(association) | 0.350 |
| GTF2H4 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| EAF1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| HIRIP3 | GPX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (92): GTF2H2C_2 (Two-hybrid), GTF2H2C_2 (Two-hybrid), GTF2H2C_2 (Two-hybrid), GTF2H2C (Affinity Capture-MS), GTF2H1 (Affinity Capture-MS), GTF2H3 (Affinity Capture-MS), GTF2H4 (Affinity Capture-MS), ERCC3 (Affinity Capture-MS), PTS (Affinity Capture-MS), GALC (Affinity Capture-MS), GTF2H2C (Co-fractionation), GTF2H2C (Co-fractionation), GTF2H2C (Co-fractionation), GTF2H2C_2 (Co-fractionation), GTF2H2C_2 (Co-fractionation)
ESM2 similar proteins: A0A1L8F5J9, A0JN27, F1LTR1, F1NBL0, O15294, P35438, P35439, P56558, P61201, P61202, P61203, P61599, P61600, P63138, P79101, P81436, Q03555, Q05586, Q13888, Q15303, Q27HV0, Q2PFM2, Q2TBV5, Q4L208, Q58ED9, Q5R1P0, Q5SP67, Q5ZJ75, Q61527, Q62956, Q6IQT4, Q6IR75, Q6P1K8, Q6P632, Q7ZXR3, Q8BUV3, Q8C6G8, Q8CGY8, Q8R4D1, Q91854
Diamond homologs: A0JN27, O74995, P34567, Q04673, Q13888, Q2TBV5, Q6P1K8, Q86KZ2, Q9JIB4, Q9ZVN9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GTF2H2C | “form complex” | TFIIH | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 33 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 |
|---|---|---|---|
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 7 | 114.2× | 9e-12 |
| RNA Pol II CTD phosphorylation and interaction with CE | 7 | 114.2× | 9e-12 |
| mRNA Capping | 7 | 106.6× | 1e-11 |
| Formation of the Early Elongation Complex | 7 | 94.0× | 1e-11 |
| Formation of the HIV-1 Early Elongation Complex | 7 | 94.0× | 1e-11 |
| RNA Polymerase I Transcription Termination | 7 | 91.4× | 2e-11 |
| Global Genome Nucleotide Excision Repair (GG-NER) | 5 | 91.4× | 1e-08 |
| Formation of Incision Complex in GG-NER | 8 | 81.2× | 7e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| nucleotide-excision repair | 7 | 89.4× | 4e-10 |
| transcription initiation at RNA polymerase II promoter | 5 | 62.4× | 2e-06 |
| DNA repair | 7 | 14.9× | 3e-05 |
| transcription by RNA polymerase II | 6 | 14.1× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
5 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2096 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:69565095:TACA:T | acceptor_loss | 1.0000 |
| 5:69565098:A:AG | acceptor_gain | 1.0000 |
| 5:69565099:G:GG | acceptor_gain | 1.0000 |
| 5:69565099:GA:G | acceptor_gain | 1.0000 |
| 5:69565099:GAT:G | acceptor_gain | 1.0000 |
| 5:69565099:GATT:G | acceptor_gain | 1.0000 |
| 5:69565099:GATTA:G | acceptor_gain | 1.0000 |
| 5:69565184:ACATG:A | donor_gain | 1.0000 |
| 5:69565186:ATGG:A | donor_loss | 1.0000 |
| 5:69565187:TGG:T | donor_loss | 1.0000 |
| 5:69565188:GGTAA:G | donor_loss | 1.0000 |
| 5:69565189:G:GA | donor_loss | 1.0000 |
| 5:69565189:G:GG | donor_gain | 1.0000 |
| 5:69565190:T:A | donor_loss | 1.0000 |
| 5:69566129:AG:A | acceptor_gain | 1.0000 |
| 5:69566130:GG:G | acceptor_gain | 1.0000 |
| 5:69566130:GGGA:G | acceptor_gain | 1.0000 |
| 5:69566965:A:AG | acceptor_gain | 1.0000 |
| 5:69566966:G:GG | acceptor_gain | 1.0000 |
| 5:69566966:GAT:G | acceptor_gain | 1.0000 |
| 5:69566966:GATGC:G | acceptor_gain | 1.0000 |
| 5:69567049:TAAAG:T | donor_loss | 1.0000 |
| 5:69567050:AAAGG:A | donor_loss | 1.0000 |
| 5:69567051:AAGG:A | donor_loss | 1.0000 |
| 5:69567052:AGG:A | donor_loss | 1.0000 |
| 5:69567054:G:GA | donor_loss | 1.0000 |
| 5:69567055:T:G | donor_loss | 1.0000 |
| 5:69567061:T:G | donor_gain | 1.0000 |
| 5:69567725:A:AG | acceptor_gain | 1.0000 |
| 5:69567726:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2593 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:69582368:T:C | F254L | 1.000 |
| 5:69582370:T:A | F254L | 1.000 |
| 5:69582370:T:G | F254L | 1.000 |
| 5:69585685:T:C | C305R | 1.000 |
| 5:69586281:T:C | L318S | 1.000 |
| 5:69565165:G:C | W11C | 0.999 |
| 5:69565165:G:T | W11C | 0.999 |
| 5:69566131:G:C | W19C | 0.999 |
| 5:69566131:G:T | W19C | 0.999 |
| 5:69566624:T:C | M57T | 0.999 |
| 5:69566970:C:A | R59S | 0.999 |
| 5:69567765:T:A | N99K | 0.999 |
| 5:69567765:T:G | N99K | 0.999 |
| 5:69567772:A:C | S102R | 0.999 |
| 5:69567774:T:A | S102R | 0.999 |
| 5:69567774:T:G | S102R | 0.999 |
| 5:69578755:A:C | S172R | 0.999 |
| 5:69578757:C:A | S172R | 0.999 |
| 5:69578757:C:G | S172R | 0.999 |
| 5:69582369:T:C | F254S | 0.999 |
| 5:69582369:T:G | F254C | 0.999 |
| 5:69585643:T:C | C291R | 0.999 |
| 5:69585645:C:G | C291W | 0.999 |
| 5:69585652:T:C | C294R | 0.999 |
| 5:69585687:T:G | C305W | 0.999 |
| 5:69585694:T:C | C308R | 0.999 |
| 5:69585695:G:A | C308Y | 0.999 |
| 5:69585696:T:G | C308W | 0.999 |
| 5:69586257:T:C | L310P | 0.999 |
| 5:69586281:T:G | L318W | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000064786 (5:69568163 T>C), RS1001071174 (5:69564610 C>G), RS1001081306 (5:69564108 C>T), RS1001372131 (5:69559032 C>G), RS1002312144 (5:69565234 T>A), RS1002586365 (5:69574263 C>T), RS1002986590 (5:69577638 T>A), RS1003042827 (5:69560771 T>G), RS1003578495 (5:69569425 A>G), RS1003874984 (5:69561256 A>G), RS1003884855 (5:69560871 C>T), RS1003986003 (5:69581290 GA>G), RS1004881791 (5:69559796 C>T), RS1004891664 (5:69559239 A>G), RS1005080672 (5:69572163 A>C)
Disease associations
OMIM: gene `` | 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
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007637_45 | Diffusing capacity of carbon monoxide | 6.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
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
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| pyrrolidine dithiocarbamic acid | affects cotreatment, increases expression | 1 |
| bathocuproine sulfonate | affects cotreatment, increases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Particulate Matter | increases abundance, 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
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.