COL26A1
gene geneOn this page
Also known as Emu2EMI6
Summary
COL26A1 (collagen type XXVI alpha 1 chain, HGNC:18038) is a protein-coding gene on chromosome 7q22.1, encoding Collagen alpha-1(XXVI) chain (Q96A83).
This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 136227 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 85 total
- MANE Select transcript:
NM_001278563
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18038 |
| Approved symbol | COL26A1 |
| Name | collagen type XXVI alpha 1 chain |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Emu2, EMI6 |
| Ensembl gene | ENSG00000160963 |
| Ensembl biotype | protein_coding |
| OMIM | 608927 |
| Entrez | 136227 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron
ENST00000313669, ENST00000613091, ENST00000613501, ENST00000913311, ENST00000913312, ENST00000913313, ENST00000913314, ENST00000913315, ENST00000913316, ENST00000913317, ENST00000913318
RefSeq mRNA: 2 — MANE Select: NM_001278563
NM_001278563, NM_133457
CCDS: CCDS64739
Canonical transcript exons
ENST00000313669 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001055660 | 101539893 | 101540049 |
| ENSE00001055689 | 101545338 | 101545490 |
| ENSE00001055691 | 101543998 | 101544096 |
| ENSE00001055698 | 101549171 | 101549223 |
| ENSE00001108810 | 101419977 | 101420099 |
| ENSE00001124206 | 101533082 | 101533143 |
| ENSE00001124224 | 101447684 | 101447787 |
| ENSE00001133734 | 101547156 | 101547239 |
| ENSE00001213142 | 101557370 | 101559024 |
| ENSE00001419296 | 101551108 | 101551143 |
| ENSE00001432304 | 101553326 | 101553376 |
| ENSE00002313219 | 101362875 | 101363190 |
| ENSE00003533099 | 101555787 | 101555871 |
Expression profiles
Bgee: expression breadth ubiquitous, 176 present calls, max score 93.45.
FANTOM5 (CAGE): breadth broad, TPM avg 9.5878 / max 265.0888, expressed in 385 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80198 | 8.3346 | 346 |
| 80199 | 0.7072 | 219 |
| 80201 | 0.2884 | 212 |
| 80197 | 0.2295 | 158 |
| 80200 | 0.0281 | 10 |
Top tissues by expression
222 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 93.45 | silver quality |
| vena cava | UBERON:0004087 | 91.66 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 87.41 | silver quality |
| cardiac muscle of right atrium | UBERON:0003379 | 86.49 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 85.88 | silver quality |
| right frontal lobe | UBERON:0002810 | 85.82 | gold quality |
| body of tongue | UBERON:0011876 | 85.27 | silver quality |
| prefrontal cortex | UBERON:0000451 | 84.64 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 84.22 | silver quality |
| heart right ventricle | UBERON:0002080 | 84.15 | silver quality |
| pylorus | UBERON:0001166 | 83.80 | silver quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.70 | gold quality |
| frontal cortex | UBERON:0001870 | 83.60 | gold quality |
| frontal lobe | UBERON:0016525 | 83.60 | gold quality |
| cardia of stomach | UBERON:0001162 | 83.19 | silver quality |
| pharyngeal mucosa | UBERON:0000355 | 83.00 | silver quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.64 | gold quality |
| tongue | UBERON:0001723 | 82.63 | silver quality |
| neocortex | UBERON:0001950 | 82.39 | gold quality |
| pons | UBERON:0000988 | 82.38 | silver quality |
| ventral tegmental area | UBERON:0002691 | 82.02 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 81.67 | silver quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 81.61 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 81.38 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 81.29 | silver quality |
| trachea | UBERON:0003126 | 81.05 | silver quality |
| pericardium | UBERON:0002407 | 80.93 | silver quality |
| cerebral cortex | UBERON:0000956 | 80.84 | gold quality |
| saphenous vein | UBERON:0007318 | 80.56 | silver quality |
| cerebellar vermis | UBERON:0004720 | 80.31 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting COL26A1, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| 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-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-4641 | 99.28 | 66.64 | 744 |
| HSA-MIR-4721 | 99.26 | 66.05 | 818 |
| HSA-MIR-6744-3P | 99.22 | 64.41 | 972 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-491-5P | 99.13 | 65.98 | 1468 |
| HSA-MIR-4757-5P | 99.12 | 64.51 | 981 |
Literature-anchored findings (GeneRIF, showing 3)
- EMID2 may be a susceptible genetic factor for aspirin hypersensitivity among asthmatics in Korean population. (PMID:21086123)
- 13 EMID2 variants were significantly associated with the presence of nasal polyps in the overall asthma group. (PMID:22217332)
- EMID2 is a novel biotherapeutic for aggressive cancers identified by in vivo screening. (PMID:38195652)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Col26a1 | ENSMUSG00000004415 |
| rattus_norvegicus | Col26a1 | ENSRNOG00000001422 |
Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COL15A1 (ENSG00000204291), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)
Protein
Protein identifiers
Collagen alpha-1(XXVI) chain — Q96A83 (reviewed: Q96A83)
Alternative names: Alpha-1 type XXVI collagen, EMI domain-containing protein 2, Emilin and multimerin domain-containing protein 2
All UniProt accessions (1): Q96A83
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Homotrimer or heterotrimer.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Post-translational modifications. Hydroxylated on proline residues.
Miscellaneous. May be due to a competing acceptor splice site.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96A83-1 | 1 | yes |
| Q96A83-2 | 2 |
RefSeq proteins (2): NP_001265492, NP_597714 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008160 | Collagen | Repeat |
| IPR011489 | EMI_domain | Domain |
| IPR050392 | Collagen/C1q_domain | Family |
Pfam: PF01391, PF07546
UniProt features (19 total): compositionally biased region 5, disulfide bond 3, domain 3, glycosylation site 2, region of interest 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7BEE | X-RAY DIFFRACTION | 1.94 |
| 4AU2 | X-RAY DIFFRACTION | 2.3 |
| 7BFI | X-RAY DIFFRACTION | 2.44 |
| 7BDU | X-RAY DIFFRACTION | 2.49 |
| 4AU3 | X-RAY DIFFRACTION | 2.78 |
| 4BJ3 | X-RAY DIFFRACTION | 3.04 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A83-F1 | 60.08 | 0.03 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (3): 56–118, 83–89, 117–126
Glycosylation sites (2): 70, 132
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1442490 | Collagen degradation |
| R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| R-HSA-8948216 | Collagen chain trimerization |
MSigDB gene sets: 88 (showing top):
GSE45365_NK_CELL_VS_CD11B_DC_UP, RNGTGGGC_UNKNOWN, GOCC_COLLAGEN_TRIMER, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, WANG_RESPONSE_TO_BEXAROTENE_UP, GOBP_REGULATION_OF_CELL_SUBSTRATE_ADHESION, GOBP_CELL_SUBSTRATE_ADHESION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_POSITIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, GOCC_INTERSTITIAL_MATRIX, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, YOSHIMURA_MAPK8_TARGETS_UP, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3
GO Biological Process (1): positive regulation of cell-substrate adhesion (GO:0010811)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (8): extracellular region (GO:0005576), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), collagen type XXVI trimer (GO:1990324), collagen trimer (GO:0005581), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Degradation of the extracellular matrix | 1 |
| Collagen formation | 1 |
| Collagen biosynthesis and modifying enzymes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
| external encapsulating structure | 1 |
| collagen trimer | 1 |
| collagenous component of interstitial matrix | 1 |
| extracellular protein-containing complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| COL26A1 | SERPINH1 | P29043 | 920 |
| COL26A1 | SVOPL | Q8N434 | 450 |
| COL26A1 | COL21A1 | Q96P44 | 442 |
| COL26A1 | COL23A1 | Q86Y22 | 438 |
| COL26A1 | ZFP90 | Q8TF47 | 427 |
| COL26A1 | NXNL2 | Q5VZ03 | 409 |
| COL26A1 | MCCC1 | Q96RQ3 | 398 |
| COL26A1 | ST8SIA1 | Q92185 | 397 |
| COL26A1 | COL16A1 | Q07092 | 392 |
| COL26A1 | ZNF396 | Q96N95 | 387 |
| COL26A1 | COL25A1 | Q9BXS0 | 382 |
| COL26A1 | COL20A1 | Q9P218 | 382 |
| COL26A1 | GLIS3 | Q8NEA6 | 371 |
| COL26A1 | COL17A1 | Q9UMD9 | 362 |
| COL26A1 | AGBL3 | Q8NEM8 | 359 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | psi-mi:“MI:0914”(association) | 0.500 | |
| LAIR2 | PLOD3 | psi-mi:“MI:0914”(association) | 0.350 |
| TBP | COL26A1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (4): COL26A1 (Affinity Capture-MS), COL26A1 (Affinity Capture-RNA), COL26A1 (Affinity Capture-MS), COL26A1 (Two-hybrid)
ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A1XQY3, A2ATD1, B1AKI9, D0PRN4, E9PUN2, O02695, P0C7U0, P18065, P20959, P47877, P47878, P49705, P55108, P58401, P80560, Q08DA0, Q28143, Q3UR85, Q3YEC7, Q460M5, Q5QQ56, Q5QQ57, Q5R3F8, Q63376, Q63475, Q68FM6, Q6T4P5, Q7TMB0, Q7TPB0, Q80TG9, Q80Z10, Q86Y38, Q8C8T7, Q8C985, Q8WXH2, Q91VF6, Q92932
Diamond homologs: A6H6E2, F1QC17, P59900, Q13201, Q8K482, Q91VF6, Q96A83, Q96A84, Q99K41, Q9BXX0, Q9H8L6, Q9NT22, Q9Y6C2, B2RPV6, Q5RJ80, Q8BVD7, Q91VF5, Q9BXJ2, Q9W332, Q05A80, Q6IMN6, Q8R066, Q9BXJ3, P83425, Q4ZJM7, Q5FVH0, Q8K479, Q9BXJ0, P27658, Q7Z5L3, Q8CFR0, A6NHN0, Q0II24
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
85 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2994 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:101363186:CGCCG:C | donor_gain | 1.0000 |
| 7:101363187:GCCG:G | donor_gain | 1.0000 |
| 7:101363187:GCCGG:G | donor_gain | 1.0000 |
| 7:101363188:CCG:C | donor_gain | 1.0000 |
| 7:101363191:G:GG | donor_gain | 1.0000 |
| 7:101363191:GT:G | donor_loss | 1.0000 |
| 7:101420095:GTAAG:G | donor_loss | 1.0000 |
| 7:101420097:AAG:A | donor_loss | 1.0000 |
| 7:101420099:GGTAA:G | donor_loss | 1.0000 |
| 7:101420100:G:A | donor_loss | 1.0000 |
| 7:101420101:T:G | donor_loss | 1.0000 |
| 7:101447784:GAGG:G | donor_gain | 1.0000 |
| 7:101447785:AGGGT:A | donor_loss | 1.0000 |
| 7:101447786:GG:G | donor_gain | 1.0000 |
| 7:101447787:GG:G | donor_gain | 1.0000 |
| 7:101447787:GGTA:G | donor_loss | 1.0000 |
| 7:101447788:GTAA:G | donor_loss | 1.0000 |
| 7:101447789:T:G | donor_loss | 1.0000 |
| 7:101533079:CAGAA:C | acceptor_loss | 1.0000 |
| 7:101533080:A:AG | acceptor_gain | 1.0000 |
| 7:101533080:A:AT | acceptor_loss | 1.0000 |
| 7:101533080:AGAAT:A | acceptor_gain | 1.0000 |
| 7:101533081:G:GA | acceptor_gain | 1.0000 |
| 7:101533081:GA:G | acceptor_gain | 1.0000 |
| 7:101533081:GAA:G | acceptor_gain | 1.0000 |
| 7:101533081:GAAT:G | acceptor_gain | 1.0000 |
| 7:101533081:GAATG:G | acceptor_gain | 1.0000 |
| 7:101539885:T:TA | acceptor_gain | 1.0000 |
| 7:101539888:CCCA:C | acceptor_loss | 1.0000 |
| 7:101539889:CCAG:C | acceptor_loss | 1.0000 |
AlphaMissense
2777 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:101420073:G:C | W85C | 0.999 |
| 7:101420073:G:T | W85C | 0.999 |
| 7:101447747:G:C | W115C | 0.999 |
| 7:101447747:G:T | W115C | 0.999 |
| 7:101555824:T:C | I373T | 0.999 |
| 7:101555818:T:C | L371P | 0.998 |
| 7:101555836:G:C | R377P | 0.998 |
| 7:101555845:T:A | I380N | 0.998 |
| 7:101555845:T:C | I380T | 0.998 |
| 7:101555848:T:C | L381P | 0.998 |
| 7:101420014:T:C | C66R | 0.997 |
| 7:101420065:T:C | C83R | 0.997 |
| 7:101555824:T:G | I373S | 0.997 |
| 7:101555827:T:C | L374P | 0.997 |
| 7:101555845:T:G | I380S | 0.997 |
| 7:101420016:C:G | C66W | 0.996 |
| 7:101420065:T:A | C83S | 0.996 |
| 7:101420066:G:A | C83Y | 0.996 |
| 7:101420066:G:C | C83S | 0.996 |
| 7:101420071:T:A | W85R | 0.996 |
| 7:101420071:T:C | W85R | 0.996 |
| 7:101555833:A:T | E376V | 0.996 |
| 7:101555842:T:C | L379P | 0.996 |
| 7:101555851:A:T | E382V | 0.996 |
| 7:101419983:G:C | W55C | 0.995 |
| 7:101419983:G:T | W55C | 0.995 |
| 7:101420015:G:A | C66Y | 0.995 |
| 7:101420067:C:G | C83W | 0.995 |
| 7:101420085:C:G | C89W | 0.995 |
| 7:101447751:T:A | C117S | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000003096 (7:101486416 A>T), RS1000004368 (7:101492141 G>T), RS1000008801 (7:101461444 G>C), RS1000013976 (7:101437024 A>G), RS1000030185 (7:101555626 T>C), RS1000063243 (7:101446859 AAAAAAG>A), RS1000067392 (7:101443288 G>A), RS1000074350 (7:101412508 G>C), RS1000083583 (7:101403519 A>C,G), RS1000087698 (7:101518811 C>T), RS1000128588 (7:101529418 G>A), RS1000134060 (7:101441897 C>A,T), RS1000134688 (7:101482116 A>G), RS1000136665 (7:101452531 C>T), RS1000139016 (7:101470246 C>G,T)
Disease associations
OMIM: gene MIM:608927 | 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
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001591_2 | Response to citalopram treatment | 3.000000e-08 |
| GCST001591_6 | Response to citalopram treatment | 3.000000e-06 |
| GCST005580_174 | Intraocular pressure | 1.000000e-08 |
| GCST005580_188 | Intraocular pressure | 3.000000e-08 |
| GCST007637_30 | Diffusing capacity of carbon monoxide | 1.000000e-06 |
| GCST008925_12 | Lysophosphatidylcholine levels | 4.000000e-08 |
| GCST010083_284 | Hemoglobin levels | 1.000000e-10 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004695 | intraocular pressure measurement |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0010224 | lysophosphatidylcholine measurement |
| EFO:0004509 | hemoglobin 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)
PharmGKB clinical annotations
2 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs10279545 | Toxicity | 3 | aspirin | |
| rs17135437 | Toxicity | 3 | citalopram | Major Depressive Disorder |
PharmGKB variants
6 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs4727494 | COL26A1 | 0.00 | 0 | ||
| rs6949799 | COL26A1 | 0.00 | 0 | ||
| rs10279545 | COL26A1 | 3 | 0.00 | 1 | aspirin |
| rs13233066 | COL26A1 | 0.00 | 0 | ||
| rs17135437 | COL26A1 | 3 | 0.00 | 1 | citalopram |
| rs17470799 | COL26A1 | 0.00 | 0 |
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| propionaldehyde | decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| belinostat | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Aspirin | affects response to substance | 1 |
| Carbamazepine | affects expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Mercury | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Thiram | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Aflatoxin B1 | affects methylation, increases methylation | 1 |
| Raloxifene Hydrochloride | 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.