EML6
geneOn this page
Also known as FLJ42562
Summary
EML6 (EMAP like 6, HGNC:35412) is a protein-coding gene on chromosome 2p16.1, encoding Echinoderm microtubule-associated protein-like 6 (Q6ZMW3). Microtubule-associated protein that plays an important role in the regulation of oocyte meiotic progression by maintaining spindle integrity and facilitating proper chromosome alignment.
Predicted to enable microtubule binding activity. Predicted to be located in cytoplasm and microtubule.
Source: NCBI Gene 400954 — RefSeq curated summary.
At a glance
- GWAS associations: 27
- Clinical variants (ClinVar): 362 total — 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_001039753
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:35412 |
| Approved symbol | EML6 |
| Name | EMAP like 6 |
| Location | 2p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ42562 |
| Ensembl gene | ENSG00000214595 |
| Ensembl biotype | protein_coding |
| OMIM | 621084 |
| Entrez | 400954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 7 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay, 2 protein_coding, 1 retained_intron
ENST00000356458, ENST00000466608, ENST00000472965, ENST00000481376, ENST00000488611, ENST00000490828, ENST00000491655, ENST00000493997, ENST00000673655, ENST00000673746, ENST00000673905, ENST00000673912, ENST00000673916, ENST00000674035
RefSeq mRNA: 1 — MANE Select: NM_001039753
NM_001039753
CCDS: CCDS46286
Canonical transcript exons
ENST00000356458 — 42 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001534017 | 54903371 | 54903502 |
| ENSE00001534019 | 54903044 | 54903196 |
| ENSE00001534021 | 54899641 | 54899782 |
| ENSE00001534022 | 54895273 | 54895400 |
| ENSE00001534024 | 54894915 | 54895026 |
| ENSE00001534025 | 54892454 | 54892656 |
| ENSE00001534026 | 54891054 | 54891154 |
| ENSE00001534028 | 54879547 | 54879640 |
| ENSE00001534033 | 54869181 | 54869367 |
| ENSE00001534034 | 54866766 | 54866884 |
| ENSE00001534044 | 54853643 | 54853855 |
| ENSE00001534046 | 54849962 | 54850218 |
| ENSE00001534048 | 54847486 | 54847623 |
| ENSE00001534052 | 54844047 | 54844248 |
| ENSE00001534055 | 54829342 | 54829477 |
| ENSE00001534059 | 54827566 | 54827751 |
| ENSE00001534062 | 54820394 | 54820462 |
| ENSE00001534065 | 54816787 | 54816885 |
| ENSE00001547832 | 54910954 | 54911042 |
| ENSE00001551428 | 54916759 | 54916935 |
| ENSE00001561833 | 54928313 | 54928514 |
| ENSE00001944258 | 54724549 | 54725258 |
| ENSE00003331670 | 54928625 | 54928751 |
| ENSE00003367631 | 54967000 | 54967103 |
| ENSE00003410438 | 54970071 | 54972025 |
| ENSE00003475468 | 54968668 | 54968768 |
| ENSE00003484249 | 54952594 | 54952692 |
| ENSE00003534203 | 54957790 | 54957998 |
| ENSE00003542451 | 54871500 | 54871605 |
| ENSE00003543942 | 54963986 | 54964158 |
| ENSE00003548067 | 54964571 | 54964733 |
| ENSE00003548449 | 54953983 | 54954156 |
| ENSE00003571582 | 54959104 | 54959261 |
| ENSE00003586053 | 54968128 | 54968281 |
| ENSE00003596186 | 54950650 | 54950779 |
| ENSE00003599351 | 54962523 | 54962711 |
| ENSE00003632084 | 54859534 | 54859701 |
| ENSE00003663543 | 54863783 | 54863889 |
| ENSE00003687853 | 54960220 | 54960334 |
| ENSE00003688117 | 54813232 | 54813391 |
| ENSE00003690143 | 54948882 | 54948960 |
| ENSE00003929029 | 54723662 | 54723777 |
Expression profiles
Bgee: expression breadth ubiquitous, 217 present calls, max score 88.99.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8977 / max 28.7072, expressed in 333 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20323 | 0.3218 | 171 |
| 20322 | 0.2934 | 172 |
| 20321 | 0.2798 | 137 |
| 20327 | 0.0028 | 2 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 88.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.83 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.53 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 86.93 | gold quality |
| cerebellar cortex | UBERON:0002129 | 86.80 | gold quality |
| primary visual cortex | UBERON:0002436 | 86.74 | gold quality |
| cerebellum | UBERON:0002037 | 86.08 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.78 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 84.05 | gold quality |
| occipital lobe | UBERON:0002021 | 83.51 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.44 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 81.96 | gold quality |
| pituitary gland | UBERON:0000007 | 81.83 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.40 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 81.39 | gold quality |
| frontal cortex | UBERON:0001870 | 81.03 | gold quality |
| neocortex | UBERON:0001950 | 80.98 | gold quality |
| cerebral cortex | UBERON:0000956 | 80.32 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.23 | gold quality |
| parietal lobe | UBERON:0001872 | 80.22 | gold quality |
| adenohypophysis | UBERON:0002196 | 80.22 | gold quality |
| brain | UBERON:0000955 | 79.77 | gold quality |
| bone marrow cell | CL:0002092 | 79.52 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.44 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 79.41 | gold quality |
| caudate nucleus | UBERON:0001873 | 79.37 | gold quality |
| left testis | UBERON:0004533 | 79.36 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
124 targeting EML6, 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-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-767-5P | 99.95 | 70.85 | 993 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | EML6 | ENSDARG00000102755 |
| mus_musculus | Eml6 | ENSMUSG00000044072 |
| rattus_norvegicus | Eml6 | ENSRNOG00000037462 |
Paralogs (9): EML1 (ENSG00000066629), EML2 (ENSG00000125746), EML4 (ENSG00000143924), EML3 (ENSG00000149499), CFAP251 (ENSG00000158023), WDR90 (ENSG00000161996), EML5 (ENSG00000165521), CFAP52 (ENSG00000166596), CFAP44 (ENSG00000206530)
Protein
Protein identifiers
Echinoderm microtubule-associated protein-like 6 — Q6ZMW3 (reviewed: Q6ZMW3)
Alternative names: Echinoderm microtubule-associated protein-like 5-like
All UniProt accessions (6): A0A669KAL3, A0A669KB40, A0A669KB65, A0A669KBD4, A0A669KBH1, Q6ZMW3
UniProt curated annotations — full annotation on UniProt →
Function. Microtubule-associated protein that plays an important role in the regulation of oocyte meiotic progression by maintaining spindle integrity and facilitating proper chromosome alignment.
Subcellular location. Cytoplasm. Cytoskeleton. Spindle.
Similarity. Belongs to the WD repeat EMAP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZMW3-1 | 1 | yes |
| Q6ZMW3-2 | 2 |
RefSeq proteins (1): NP_001034842* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR005108 | HELP | Conserved_site |
| IPR011047 | Quinoprotein_ADH-like_sf | Homologous_superfamily |
| IPR011048 | Haem_d1_sf | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR050630 | WD_repeat_EMAP | Family |
| IPR055439 | Beta-prop_EML_1st | Domain |
| IPR055442 | Beta-prop_EML-like_2nd | Domain |
Pfam: PF03451, PF23409, PF23414
UniProt features (37 total): repeat 30, region of interest 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZMW3-F1 | 87.42 | 0.62 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 111 (showing top):
SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, BILD_E2F3_ONCOGENIC_SIGNATURE, GOMF_CYTOSKELETAL_PROTEIN_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, E2F3_UP.V1_UP, GOCC_SUPRAMOLECULAR_POLYMER, CIITA_TARGET_GENES, DLX2_TARGET_GENES, E2F5_TARGET_GENES, FEV_TARGET_GENES, FOXD2_TARGET_GENES, GLI1_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (2): microtubule binding (GO:0008017), protein binding (GO:0005515)
GO Cellular Component (3): microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tubulin binding | 1 |
| binding | 1 |
| microtubule cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1661 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EML6 | CIMAP1D | Q3SX64 | 515 |
| EML6 | KIAA1755 | Q5JYT7 | 446 |
| EML6 | EPB41L4A | Q9HCS5 | 386 |
| EML6 | HAUS1 | Q96CS2 | 385 |
| EML6 | SLC6A7 | Q99884 | 377 |
| EML6 | ITM2C | Q9NQX7 | 363 |
| EML6 | TMEM69 | Q5SWH9 | 358 |
| EML6 | ANTXRL | A6NF34 | 353 |
| EML6 | OR2T4 | Q8NH00 | 349 |
| EML6 | LMAN1L | Q9HAT1 | 346 |
| EML6 | TOGARAM2 | Q6ZUX3 | 346 |
| EML6 | GPBP1L1 | Q9HC44 | 339 |
| EML6 | PPP1R37 | O75864 | 331 |
| EML6 | CCDC167 | Q9P0B6 | 324 |
| EML6 | TSPYL6 | Q8N831 | 323 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TUBB2B | EML2 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBB3 | EML1 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| TUBB8 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| TUBB3 | TUBB8B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (19): EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-RNA), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Affinity Capture-MS), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Affinity Capture-RNA), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Cross-Linking-MS (XL-MS)), EML6 (Co-fractionation), EML6 (Co-fractionation)
ESM2 similar proteins: A3LX18, A5DGL8, A5DVY3, A8ILK1, E1BKF9, E3LB80, F1SS88, O00423, O14301, O75083, O88342, O93277, P0CS32, P0CS33, P23232, Q05BC3, Q05BV3, Q15269, Q26613, Q29HG9, Q2KJH4, Q4P6E2, Q54MT0, Q5AI86, Q5F201, Q5RFQ3, Q5RHH4, Q5RKI0, Q5SQM0, Q6BSL7, Q6CI08, Q6DIF4, Q6ED65, Q6FL15, Q6PAX7, Q6ZMW3, Q759L2, Q8BHB4, Q8BQM8, Q8BU03
Diamond homologs: A0AUS0, A0DB19, A0JMQ0, A1CJY4, A1D7I5, A2QEV8, A3LX18, A4H6F7, A4HUV2, A4RDD7, A5DGL8, A5DVY3, A6RUL1, A6ZMK5, A7EF03, A7RM20, A7TH19, A8QBF3, A8WVX8, A8XYW9, A9UZS7, B0BNA7, B0XFT7, B0XYC8, B3MVL6, B3N4C7, B4GIU9, B4GSH1, B4I195, B4JB43, B4KGX9, B4KQU8, B4LUA5, B4MYI5, B4N0L0, B4NW98, B4Q354, B5FZ19, B6K1G6, B8M0Q1
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
362 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 327 |
| Likely benign | 8 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3236471 | NM_001039753.4(EML6):c.2563G>A (p.Gly855Arg) | Likely pathogenic |
SpliceAI
7401 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:54725257:AGG:A | donor_loss | 1.0000 |
| 2:54725258:GGTA:G | donor_loss | 1.0000 |
| 2:54725260:T:G | donor_loss | 1.0000 |
| 2:54813230:A:AG | acceptor_gain | 1.0000 |
| 2:54813231:G:GG | acceptor_gain | 1.0000 |
| 2:54813231:GC:G | acceptor_gain | 1.0000 |
| 2:54813231:GCCTT:G | acceptor_gain | 1.0000 |
| 2:54813388:ACAG:A | donor_loss | 1.0000 |
| 2:54813389:CAGG:C | donor_loss | 1.0000 |
| 2:54813390:AGG:A | donor_loss | 1.0000 |
| 2:54813391:GG:G | donor_loss | 1.0000 |
| 2:54813393:T:G | donor_loss | 1.0000 |
| 2:54816785:A:AG | acceptor_gain | 1.0000 |
| 2:54816786:G:GG | acceptor_gain | 1.0000 |
| 2:54816786:GC:G | acceptor_gain | 1.0000 |
| 2:54816883:AGGGT:A | donor_loss | 1.0000 |
| 2:54816884:GG:G | donor_gain | 1.0000 |
| 2:54816884:GGGT:G | donor_loss | 1.0000 |
| 2:54816885:GG:G | donor_gain | 1.0000 |
| 2:54816886:G:GA | donor_loss | 1.0000 |
| 2:54816887:T:A | donor_loss | 1.0000 |
| 2:54845422:T:G | donor_gain | 1.0000 |
| 2:54847595:G:GT | donor_gain | 1.0000 |
| 2:54849957:TACA:T | acceptor_loss | 1.0000 |
| 2:54849958:ACAG:A | acceptor_loss | 1.0000 |
| 2:54849960:A:AG | acceptor_gain | 1.0000 |
| 2:54849960:A:C | acceptor_loss | 1.0000 |
| 2:54849961:G:GG | acceptor_gain | 1.0000 |
| 2:54849961:GA:G | acceptor_gain | 1.0000 |
| 2:54849961:GAGAT:G | acceptor_gain | 1.0000 |
AlphaMissense
12913 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:54725113:G:T | G18W | 1.000 |
| 2:54725114:G:A | G18E | 1.000 |
| 2:54725134:C:A | R25S | 1.000 |
| 2:54725142:C:A | N27K | 1.000 |
| 2:54725142:C:G | N27K | 1.000 |
| 2:54725171:T:A | V37D | 1.000 |
| 2:54725191:G:T | G44W | 1.000 |
| 2:54725257:A:C | S66R | 1.000 |
| 2:54813232:C:A | S66R | 1.000 |
| 2:54813232:C:G | S66R | 1.000 |
| 2:54813261:T:A | V76D | 1.000 |
| 2:54813264:C:A | A77E | 1.000 |
| 2:54813269:G:C | G79R | 1.000 |
| 2:54813270:G:A | G79D | 1.000 |
| 2:54813302:T:A | W90R | 1.000 |
| 2:54813302:T:C | W90R | 1.000 |
| 2:54813357:G:A | G108E | 1.000 |
| 2:54816796:T:C | S123P | 1.000 |
| 2:54816797:C:T | S123F | 1.000 |
| 2:54816802:G:A | G125R | 1.000 |
| 2:54816802:G:C | G125R | 1.000 |
| 2:54816802:G:T | G125W | 1.000 |
| 2:54816803:G:A | G125E | 1.000 |
| 2:54816832:T:A | W135R | 1.000 |
| 2:54816832:T:C | W135R | 1.000 |
| 2:54816872:G:A | G148D | 1.000 |
| 2:54820439:A:C | S168R | 1.000 |
| 2:54820441:C:A | S168R | 1.000 |
| 2:54820441:C:G | S168R | 1.000 |
| 2:54820445:G:A | G170R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006016 (2:54800605 A>G), RS1000011384 (2:54841743 C>G,T), RS1000013851 (2:54832334 C>T), RS1000016846 (2:54773322 A>C), RS1000064081 (2:54945936 G>A,C,T), RS1000066743 (2:54850186 G>A), RS1000071381 (2:54864163 A>G), RS1000082336 (2:54912431 G>C,T), RS1000087097 (2:54832532 G>A,C), RS1000094944 (2:54824270 C>T), RS1000104163 (2:54803997 G>A), RS1000121787 (2:54941451 C>G), RS1000126887 (2:54859747 G>A,C,T), RS1000133278 (2:54915681 A>G), RS1000141786 (2:54733365 A>G)
Disease associations
OMIM: gene MIM:621084 | disease phenotypes: MIM:148300
GenCC curated gene-disease
Mondo (1): keratoconus (MONDO:0015486)
Orphanet (2): OBSOLETE: Keratoconus (Orphanet:156071), NON RARE IN EUROPE: Isolated keratoconus (Orphanet:2335)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000563 | Keratoconus |
GWAS associations
27 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002685_16 | Refractive astigmatism | 2.000000e-06 |
| GCST003943_5 | Hepcidin levels | 1.000000e-08 |
| GCST003943_7 | Hepcidin levels | 3.000000e-06 |
| GCST003945_3 | Hepcidin/transferrin saturation ratio | 3.000000e-06 |
| GCST003945_8 | Hepcidin/transferrin saturation ratio | 2.000000e-07 |
| GCST004599_274 | Mean platelet volume | 2.000000e-11 |
| GCST004610_42 | White blood cell count | 3.000000e-09 |
| GCST004613_90 | Sum neutrophil eosinophil counts | 7.000000e-10 |
| GCST004614_126 | Granulocyte count | 5.000000e-10 |
| GCST004620_130 | Sum basophil neutrophil counts | 1.000000e-10 |
| GCST004626_14 | Myeloid white cell count | 3.000000e-10 |
| GCST004629_22 | Neutrophil count | 1.000000e-10 |
| GCST005721_1 | Food allergy (parent-of-origin effect) | 1.000000e-06 |
| GCST005978_1 | Diastolic blood pressure | 5.000000e-12 |
| GCST006010_4 | Mean arterial pressure | 8.000000e-12 |
| GCST006031_4 | Potassium levels | 6.000000e-09 |
| GCST006460_4 | Bronchopulmonary dysplasia in preterm infants | 5.000000e-06 |
| GCST007703_96 | Systolic blood pressure | 2.000000e-07 |
| GCST007704_98 | Diastolic blood pressure | 2.000000e-14 |
| GCST007706_10 | Mean arterial pressure | 1.000000e-11 |
| GCST007707_99 | Hypertension | 5.000000e-06 |
| GCST010002_365 | Refractive error | 3.000000e-34 |
| GCST012226_160 | Waist circumference adjusted for body mass index | 2.000000e-08 |
| GCST012226_161 | Waist circumference adjusted for body mass index | 4.000000e-09 |
| GCST012489_108 | Heel bone mineral density x serum urate levels interaction | 2.000000e-08 |
| GCST90002387_256 | Immature fraction of reticulocytes | 1.000000e-09 |
| GCST90002395_323 | Mean platelet volume | 8.000000e-23 |
EFO canonical traits (14, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007902 | hepcidin:transferrin saturation ratio |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0007016 | food allergy measurement |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0009283 | potassium measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007640 | Keratoconus | C11.204.627 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, affects cotreatment, increases expression, affects expression | 9 |
| trichostatin A | decreases expression, increases expression, affects expression | 2 |
| Nickel | decreases expression | 2 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Ethinyl Estradiol | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Lead | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Vincristine | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Genistein | affects expression | 1 |
Clinical trials (associated diseases)
279 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01485211 | PHASE4 | COMPLETED | Corneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin |
| NCT02119039 | PHASE4 | COMPLETED | Effect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus |
| NCT03245853 | PHASE4 | COMPLETED | Epi-On Corneal Crosslinking for Keratoconus |
| NCT03429569 | PHASE4 | UNKNOWN | Cross-Linking ACcéléré Iontophorèse Confocal kératocONE |
| NCT04427956 | PHASE4 | COMPLETED | Corneal Crosslinking Treatment Study |
| NCT07474870 | PHASE4 | NOT_YET_RECRUITING | Outcomes of CTAK Surgery |
| NCT00371202 | PHASE3 | UNKNOWN | Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus |
| NCT00647699 | PHASE3 | COMPLETED | Corneal Collagen Cross-linking for Progressive Keratoconus |
| NCT00815256 | PHASE3 | UNKNOWN | Safety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus |
| NCT00887900 | PHASE3 | COMPLETED | Deep Anterior Lamellar Keratoplasty (DALK) |
| NCT01112072 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia |
| NCT01152541 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin |
| NCT01190306 | PHASE3 | TERMINATED | Safety Study of the VEGA UV-A System to Treat Keratoconus |
| NCT01344187 | PHASE3 | COMPLETED | Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT01459679 | PHASE3 | TERMINATED | Safety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery |
| NCT01464268 | PHASE3 | UNKNOWN | Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia |
| NCT01604135 | PHASE3 | ACTIVE_NOT_RECRUITING | Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial |
| NCT01643226 | PHASE3 | COMPLETED | Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT01672814 | PHASE3 | COMPLETED | Microwave Treatment and Corneal Collagen Crosslinking for Keratoconus |
| NCT01682993 | PHASE3 | TERMINATED | Corneal Cross Linking and Topography Guided Excimer Laser Treatment |
| NCT01972854 | PHASE3 | TERMINATED | Safety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT02613780 | PHASE3 | UNKNOWN | Refractive Treatment of Early Keratoconus |
| NCT02638376 | PHASE3 | UNKNOWN | Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus |
| NCT03080077 | PHASE3 | UNKNOWN | Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia |
| NCT03187912 | PHASE3 | COMPLETED | Accelerated Corneal Cross-linking With Different Riboflavin Solutions |
| NCT03442751 | PHASE3 | COMPLETED | Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus |
| NCT03858036 | PHASE3 | UNKNOWN | Corneal Collagen Cross-Linking (CXL) Performed With Epi-ON Versus Epi-OFF in Eyes With Keratoconus and Other Corneal Ectatic Disorders |
| NCT04897503 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose |
| NCT04905108 | PHASE3 | UNKNOWN | Transepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia |
| NCT05027295 | PHASE3 | UNKNOWN | Accelerated Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Pulse or Continuous UV-A Light |
| NCT06100939 | PHASE3 | ACTIVE_NOT_RECRUITING | Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age With Keratoconus |
| NCT06100952 | PHASE3 | ACTIVE_NOT_RECRUITING | Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age with Keratoconus |
| NCT06450470 | PHASE3 | RECRUITING | Use of a Freeze-dried Amniotic Membrane Post Crosslinking in Subjects With Progressive Keratoconus |
| NCT06601101 | PHASE3 | RECRUITING | Effects of Topical Insulin on Corneal Epithelium Healing After Corneal Crosslinking in Patients With Keratoconus |
| NCT07124910 | PHASE3 | RECRUITING | Comparison of Epi-ON Corneal Collagen Crosslinking Performed Using an 18-Minute UVA Exposure vs. a 24-Minute UVA Exposure on Eyes With Ectatic Corneal Diseases |
| NCT07135167 | PHASE3 | RECRUITING | Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome |
| NCT00409955 | PHASE2 | COMPLETED | Lamellar Transplant With Lyophilized Corneas |
| NCT00925327 | PHASE2 | UNKNOWN | Safety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking for Compassionate Treatment in Pediatric Patients With Progressive Keratoconus |
| NCT01143389 | PHASE2 | COMPLETED | Corneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia |
| NCT01181219 | PHASE2 | COMPLETED | Transepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bronchopulmonary dysplasia