CENPL
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Also known as dJ383J4.3FLJ31044
Summary
CENPL (centromere protein L, HGNC:17879) is a protein-coding gene on chromosome 1q25.1, encoding Centromere protein L (Q8N0S6). Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. It is a selective cancer dependency (DepMap: 38.7% of cell lines).
CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].
Source: NCBI Gene 91687 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 66 total
- Cancer dependency (DepMap): dependent in 38.7% of screened cell lines
- MANE Select transcript:
NM_001387287
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17879 |
| Approved symbol | CENPL |
| Name | centromere protein L |
| Location | 1q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ383J4.3, FLJ31044 |
| Ensembl gene | ENSG00000120334 |
| Ensembl biotype | protein_coding |
| OMIM | 611503 |
| Entrez | 91687 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 14 protein_coding, 6 protein_coding_CDS_not_defined
ENST00000345664, ENST00000356198, ENST00000367710, ENST00000460816, ENST00000479159, ENST00000484920, ENST00000493233, ENST00000495275, ENST00000496683, ENST00000682279, ENST00000893543, ENST00000893544, ENST00000920091, ENST00000920092, ENST00000920093, ENST00000920094, ENST00000920095, ENST00000920096, ENST00000966256, ENST00000966257
RefSeq mRNA: 13 — MANE Select: NM_001387287
NM_001127181, NM_001171182, NM_001387284, NM_001387285, NM_001387286, NM_001387287, NM_001387288, NM_001387289, NM_001387290, NM_001387291, NM_001387292, NM_001387293, NM_033319
CCDS: CCDS30938, CCDS44277
Canonical transcript exons
ENST00000682279 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001399955 | 173823926 | 173824019 |
| ENSE00001422174 | 173799550 | 173800519 |
| ENSE00003582687 | 173807267 | 173807518 |
| ENSE00003586960 | 173802963 | 173803505 |
| ENSE00003683916 | 173811132 | 173811306 |
| ENSE00003918516 | 173824212 | 173824883 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 88.95.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3588 / max 102.4431, expressed in 1679 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15957 | 3.0417 | 1303 |
| 15956 | 1.8725 | 883 |
| 15955 | 1.2736 | 716 |
| 15953 | 0.9568 | 606 |
| 15958 | 0.6186 | 300 |
| 15954 | 0.5955 | 385 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 88.95 | gold quality |
| ventricular zone | UBERON:0003053 | 88.06 | gold quality |
| secondary oocyte | CL:0000655 | 86.39 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.71 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.87 | gold quality |
| endothelial cell | CL:0000115 | 80.56 | silver quality |
| bone marrow | UBERON:0002371 | 79.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.23 | gold quality |
| adult organism | UBERON:0007023 | 78.36 | gold quality |
| bone marrow cell | CL:0002092 | 76.42 | gold quality |
| calcaneal tendon | UBERON:0003701 | 76.09 | gold quality |
| buccal mucosa cell | CL:0002336 | 75.67 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.98 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.94 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 74.64 | gold quality |
| testis | UBERON:0000473 | 74.51 | gold quality |
| right testis | UBERON:0004534 | 74.49 | gold quality |
| lymph node | UBERON:0000029 | 74.21 | gold quality |
| amniotic fluid | UBERON:0000173 | 74.06 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 73.80 | gold quality |
| rectum | UBERON:0001052 | 73.74 | gold quality |
| left testis | UBERON:0004533 | 73.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 73.63 | gold quality |
| islet of Langerhans | UBERON:0000006 | 73.61 | gold quality |
| tendon | UBERON:0000043 | 73.08 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 72.83 | silver quality |
| muscle of leg | UBERON:0001383 | 72.35 | gold quality |
| thymus | UBERON:0002370 | 72.29 | gold quality |
| gastrocnemius | UBERON:0001388 | 72.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting CENPL, 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-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-12135 | 98.99 | 70.26 | 1814 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-1304-5P | 98.90 | 68.58 | 1054 |
| HSA-MIR-3146 | 98.85 | 66.77 | 601 |
| HSA-MIR-222-5P | 98.75 | 69.17 | 1242 |
| HSA-MIR-4742-3P | 98.73 | 69.82 | 1803 |
| HSA-MIR-203B-3P | 97.82 | 66.27 | 979 |
| HSA-MIR-22-5P | 97.67 | 68.92 | 1355 |
| HSA-MIR-8055 | 97.62 | 66.09 | 1023 |
| HSA-MIR-512-5P | 97.47 | 66.48 | 591 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
| HSA-MIR-101-5P | 96.84 | 65.66 | 649 |
| HSA-MIR-6734-5P | 95.70 | 65.56 | 950 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 38.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- Study demonstrate that the CENP-L-N complex plays a crucial role at the core of the 16-subunit Constitutive Centromere-Associated Network through interactions with CENP-C and CENP-H-I-KM. (PMID:26698661)
- High mRNA Expression of CENPL and Its Significance in Prognosis of Hepatocellular Carcinoma Patients. (PMID:34457090)
- Highly expressed centromere protein L indicates adverse survival and associates with immune infiltration in hepatocellular carcinoma. (PMID:34607313)
- Overexpression of CENPL mRNA potentially regulated by miR-340-3p predicts the prognosis of pancreatic cancer patients. (PMID:36572856)
- CENPL accelerates cell proliferation, cell cycle, apoptosis, and glycolysis via the MEK1/2-ERK1/2 pathway in hepatocellular carcinoma. (PMID:37914022)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cenpl | ENSDARG00000038802 |
| mus_musculus | Cenpl | ENSMUSG00000026708 |
| rattus_norvegicus | Cenpl | ENSRNOG00000038789 |
Protein
Protein identifiers
Centromere protein L — Q8N0S6 (reviewed: Q8N0S6)
Alternative names: Interphase centromere complex protein 33
All UniProt accessions (1): Q8N0S6
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex.
Subunit / interactions. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.
Subcellular location. Nucleus. Chromosome. Centromere.
Similarity. Belongs to the CENP-L/IML3 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N0S6-1 | 1 | yes |
| Q8N0S6-2 | 2 | |
| Q8N0S6-3 | 3 |
RefSeq proteins (13): NP_001120653, NP_001164653, NP_001374213, NP_001374214, NP_001374215, NP_001374216, NP_001374217, NP_001374218, NP_001374219, NP_001374220, NP_001374221, NP_001374222, NP_201576 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR025204 | CENP-L | Family |
Pfam: PF13092
UniProt features (37 total): strand 18, helix 10, modified residue 3, splice variant 3, chain 1, turn 1, sequence variant 1
Structure
Experimental structures (PDB)
12 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 28OP | ELECTRON MICROSCOPY | 2.7 |
| 7R5S | ELECTRON MICROSCOPY | 2.83 |
| 7PKN | ELECTRON MICROSCOPY | 3.2 |
| 7XHO | ELECTRON MICROSCOPY | 3.29 |
| 9TAW | ELECTRON MICROSCOPY | 3.54 |
| 7XHN | ELECTRON MICROSCOPY | 3.71 |
| 9TAX | ELECTRON MICROSCOPY | 4.5 |
| 7R5V | ELECTRON MICROSCOPY | 4.55 |
| 7QOO | ELECTRON MICROSCOPY | 4.6 |
| 7YYH | ELECTRON MICROSCOPY | 8.9 |
| 7YWX | ELECTRON MICROSCOPY | 12 |
| 9TAY | ELECTRON MICROSCOPY | 15.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N0S6-F1 | 83.44 | 0.64 |
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 (3): 39, 43, 53
Function
Pathways and Gene Ontology
Reactome pathways
21 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-606279 | Deposition of new CENPA-containing nucleosomes at the centromere |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
| R-HSA-141424 | Amplification of signal from the kinetochores |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| R-HSA-68882 | Mitotic Anaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
| R-HSA-69618 | Mitotic Spindle Checkpoint |
| R-HSA-69620 | Cell Cycle Checkpoints |
| R-HSA-73886 | Chromosome Maintenance |
| R-HSA-774815 | Nucleosome assembly |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 152 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, CAFFAREL_RESPONSE_TO_THC_UP, FISCHER_G2_M_CELL_CYCLE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, BURTON_ADIPOGENESIS_PEAK_AT_24HR, REACTOME_CELL_CYCLE_CHECKPOINTS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, CAFFAREL_RESPONSE_TO_THC_24HR_5_DN, NUYTTEN_EZH2_TARGETS_DN, GOCC_CHROMOSOMAL_REGION, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MARSON_BOUND_BY_E2F4_UNSTIMULATED
GO Biological Process (1): chromosome segregation (GO:0007059)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-14 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle | 3 |
| Mitotic Prometaphase | 2 |
| M Phase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| Nucleosome assembly | 1 |
| Mitotic Spindle Checkpoint | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Mitotic Metaphase and Anaphase | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle Checkpoints | 1 |
| Chromosome Maintenance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell cycle process | 1 |
| binding | 1 |
| kinetochore | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| chromosomal region | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1054 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CENPL | CENPK | Q9BS16 | 993 |
| CENPL | CENPH | Q9H3R5 | 988 |
| CENPL | CENPO | Q9BU64 | 984 |
| CENPL | CENPI | Q92674 | 979 |
| CENPL | CENPQ | Q7L2Z9 | 971 |
| CENPL | CENPP | Q6IPU0 | 962 |
| CENPL | CENPN | Q96H22 | 960 |
| CENPL | ITGB3BP | Q13352 | 956 |
| CENPL | CENPM | Q9NSP4 | 937 |
| CENPL | CENPT | Q96BT3 | 930 |
| CENPL | CENPC | Q03188 | 928 |
| CENPL | CENPS | Q8N2Z9 | 925 |
| CENPL | CENPA | P49450 | 921 |
| CENPL | CENPU | Q71F23 | 906 |
| CENPL | CENPW | Q5EE01 | 787 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ITGB3BP | CENPU | psi-mi:“MI:0914”(association) | 0.710 |
| CENPL | FAM9B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| CENPH | ITGB3BP | psi-mi:“MI:0914”(association) | 0.530 |
| CENPH | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| CENPK | DHRS12 | psi-mi:“MI:0914”(association) | 0.530 |
| GORASP1 | PPP6R2 | psi-mi:“MI:0914”(association) | 0.530 |
| CENPL | ICK | psi-mi:“MI:0915”(physical association) | 0.400 |
| CENPL | RBM42 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CENPL | JMJD6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Cenph | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| GORASP1 | CLASP2 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKRA | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| RPLP0 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.350 |
| CENPL | RPL13 | psi-mi:“MI:0914”(association) | 0.350 |
| TMED5 | DGAT1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (31): FAM9B (Two-hybrid), ICK (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), ICK (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPL (Affinity Capture-MS), CENPK (Affinity Capture-MS), CENPU (Affinity Capture-MS)
ESM2 similar proteins: A4FV97, A6NFN9, F6RRD7, O60934, O96028, P14629, P38432, P78345, Q05CL8, Q12789, Q28G87, Q32LC1, Q3MHN7, Q3U3S3, Q3US16, Q496Z9, Q4AC94, Q4G0J3, Q4R627, Q52KB6, Q561R3, Q5EA18, Q5I0E6, Q5R5T0, Q5RA37, Q5RCV3, Q5RL73, Q63505, Q7Z2T5, Q7ZWE3, Q80UU2, Q8BMI4, Q8BVY0, Q8C6C7, Q8IXW5, Q8K284, Q8K2X2, Q8N0S6, Q8N8B7, Q8VC34
Diamond homologs: Q1T7C0, Q28HN9, Q3U3S3, Q3ZAU7, Q5EA18, Q6DRD4, Q8N0S6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CENPL | “form complex” | “CCAN complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 25 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 |
|---|---|---|---|
| Nucleosome assembly | 5 | 125.2× | 5e-08 |
| Chromosome Maintenance | 5 | 55.6× | 2e-06 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 5 | 41.7× | 5e-06 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 5 | 30.7× | 1e-05 |
| EML4 and NUDC in mitotic spindle formation | 5 | 24.4× | 4e-05 |
| Resolution of Sister Chromatid Cohesion | 5 | 22.8× | 4e-05 |
| RHO GTPases Activate Formins | 5 | 20.4× | 6e-05 |
| Separation of Sister Chromatids | 6 | 19.2× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromosome segregation | 5 | 39.5× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
66 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
939 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:173807264:TA:T | donor_loss | 1.0000 |
| 1:173807266:C:CT | donor_loss | 1.0000 |
| 1:173811126:GCATA:G | donor_loss | 1.0000 |
| 1:173811127:CATA:C | donor_loss | 1.0000 |
| 1:173811128:ATAC:A | donor_loss | 1.0000 |
| 1:173811129:TACC:T | donor_loss | 1.0000 |
| 1:173811130:A:AC | donor_gain | 1.0000 |
| 1:173811131:C:CC | donor_gain | 1.0000 |
| 1:173811131:C:G | donor_loss | 1.0000 |
| 1:173811303:CTGT:C | acceptor_gain | 1.0000 |
| 1:173811304:TGT:T | acceptor_gain | 1.0000 |
| 1:173811307:C:CC | acceptor_gain | 1.0000 |
| 1:173811311:A:C | acceptor_gain | 1.0000 |
| 1:173800517:AATCT:A | acceptor_loss | 0.9900 |
| 1:173800518:ATC:A | acceptor_loss | 0.9900 |
| 1:173800519:TCT:T | acceptor_loss | 0.9900 |
| 1:173800520:C:CC | acceptor_gain | 0.9900 |
| 1:173800520:C:T | acceptor_loss | 0.9900 |
| 1:173800521:T:C | acceptor_loss | 0.9900 |
| 1:173803093:T:TA | donor_gain | 0.9900 |
| 1:173811131:CCTG:C | donor_gain | 0.9900 |
| 1:173811194:T:TA | donor_gain | 0.9900 |
| 1:173811305:GT:G | acceptor_gain | 0.9900 |
| 1:173811307:CTG:C | acceptor_loss | 0.9900 |
| 1:173811310:CA:C | acceptor_gain | 0.9900 |
| 1:173823945:CGCTG:C | donor_gain | 0.9900 |
| 1:173824866:G:GT | donor_gain | 0.9900 |
| 1:173800516:GAAT:G | acceptor_gain | 0.9800 |
| 1:173802960:AACCT:A | donor_loss | 0.9800 |
| 1:173802961:ACC:A | donor_loss | 0.9800 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000035024 (1:173805825 C>G), RS1000060095 (1:173821555 T>G), RS1000197032 (1:173816946 T>A), RS1000208924 (1:173824302 CA>C), RS1000214011 (1:173813183 C>T), RS1000270310 (1:173816818 G>A,T), RS1000326277 (1:173817993 G>A,C), RS1000451026 (1:173810996 A>T), RS1000535921 (1:173818021 G>C), RS1000661229 (1:173823157 A>T), RS1000666403 (1:173816760 G>C), RS1000722333 (1:173824563 G>A), RS1000821014 (1:173812086 A>C), RS1000846198 (1:173805735 A>G), RS1000877074 (1:173810790 G>A,T)
Disease associations
OMIM: gene MIM:611503 | disease phenotypes: MIM:611105
GenCC curated gene-disease
Mondo (2): primary ovarian failure (MONDO:0005387), leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (MONDO:0012622)
Orphanet (2): Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (Orphanet:137898), 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 (2)
| 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 |
| C567009 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 16-hydroxycleroda-3,13(14)-dien-15,16-olide | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Lucanthone | decreases expression | 1 |
| Methylcholanthrene | affects binding, increases reaction | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Dronabinol | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
80 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): leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome