ETAA1
geneOn this page
Also known as ETAA16
Summary
ETAA1 (ETAA1 activator of ATR kinase, HGNC:24648) is a protein-coding gene on chromosome 2p14, encoding Ewing’s tumor-associated antigen 1 (Q9NY74). Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity.
Enables protein serine/threonine kinase activator activity. Involved in several processes, including positive regulation of protein serine/threonine kinase activity; regulation of cell cycle phase transition; and replication fork processing. Located in cytosol; nuclear lumen; and plasma membrane.
Source: NCBI Gene 54465 — RefSeq curated summary.
At a glance
- GWAS associations: 35
- Clinical variants (ClinVar): 132 total
- MANE Select transcript:
NM_019002
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24648 |
| Approved symbol | ETAA1 |
| Name | ETAA1 activator of ATR kinase |
| Location | 2p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ETAA16 |
| Ensembl gene | ENSG00000143971 |
| Ensembl biotype | protein_coding |
| OMIM | 613196 |
| Entrez | 54465 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay
ENST00000272342, ENST00000462772, ENST00000644028, ENST00000645739, ENST00000854557, ENST00000925950, ENST00000925951, ENST00000925952
RefSeq mRNA: 1 — MANE Select: NM_019002
NM_019002
CCDS: CCDS1882
Canonical transcript exons
ENST00000272342 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000963000 | 67399550 | 67399626 |
| ENSE00000963001 | 67402862 | 67402974 |
| ENSE00000963004 | 67403225 | 67405335 |
| ENSE00001006420 | 67409911 | 67412089 |
| ENSE00001006421 | 67397333 | 67397671 |
| ENSE00001247030 | 67399169 | 67399297 |
Expression profiles
Bgee: expression breadth ubiquitous, 224 present calls, max score 87.60.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.4103 / max 195.1946, expressed in 1751 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20662 | 11.4103 | 1751 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 87.60 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.59 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.71 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 84.91 | gold quality |
| visceral pleura | UBERON:0002401 | 83.30 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.21 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 82.85 | silver quality |
| parietal pleura | UBERON:0002400 | 82.36 | gold quality |
| pleura | UBERON:0000977 | 81.85 | silver quality |
| right adrenal gland | UBERON:0001233 | 81.62 | gold quality |
| gingival epithelium | UBERON:0001949 | 81.46 | silver quality |
| left adrenal gland | UBERON:0001234 | 81.27 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.11 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.90 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 79.90 | gold quality |
| adrenal gland | UBERON:0002369 | 79.90 | gold quality |
| adrenal cortex | UBERON:0001235 | 79.63 | gold quality |
| body of pancreas | UBERON:0001150 | 79.32 | gold quality |
| gingiva | UBERON:0001828 | 79.25 | silver quality |
| stromal cell of endometrium | CL:0002255 | 79.07 | gold quality |
| eye | UBERON:0000970 | 79.02 | gold quality |
| ventricular zone | UBERON:0003053 | 79.01 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.91 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 78.87 | silver quality |
| islet of Langerhans | UBERON:0000006 | 78.65 | gold quality |
| right coronary artery | UBERON:0001625 | 78.65 | gold quality |
| pancreas | UBERON:0001264 | 78.48 | gold quality |
| tibia | UBERON:0000979 | 78.43 | gold quality |
| endometrium | UBERON:0001295 | 78.11 | 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)
38 targeting ETAA1, 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-3685 | 99.62 | 68.83 | 1621 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-3140-5P | 99.39 | 69.04 | 1136 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
Literature-anchored findings (GeneRIF, showing 9)
- results suggest that ETAA16 may function as a tumour-specific cell surface antigen in Ewing’s family of tumors (PMID:16003559)
- results reveal that ETAA1 is a novel RPA-interacting protein that promotes restart of stalled replication forks. (PMID:27601467)
- that parallel TopBP1- and ETAA1-mediated pathways underlie ATR activation and that their combined action is essential for coping with replication stress (PMID:27723717)
- ETAA1 acts as a direct ATR serine-threonine kinase protein activator (PMID:27723720)
- These our data suggest that ETAA1 is a new ATR activator involved in replication checkpoint control. (PMID:27818175)
- ETAA1 regulates mitotic ATR signaling and is required for proper chromosome alignment during metaphase and for a fully functional spindle assembly checkpoint response. (PMID:30755469)
- ETAA1 and TOPBP1 contain a predicted coiled-coil motif that is required for ATR activation in vitro and in cells. Mutation of the predicted coiled coils does not alter AAD oligomerization but does impair binding of the AADs to ATR. (PMID:30940728)
- ETAA1 may have an important role in protecting against genome instability arising from incompletely duplicated DNA via regulatory control of its ATR-stimulating potential (PMID:31615875)
- ATR activation is regulated by dimerization of ATR activating proteins. (PMID:33636182)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | etaa1a | ENSDARG00000074915 |
| danio_rerio | etaa1b | ENSDARG00000078166 |
| mus_musculus | Etaa1 | ENSMUSG00000016984 |
| rattus_norvegicus | Etaa1-ps1 | ENSRNOG00000006185 |
| rattus_norvegicus | ENSRNOG00000076406 | |
| rattus_norvegicus | ENSRNOG00000077122 |
Protein
Protein identifiers
Ewing’s tumor-associated antigen 1 — Q9NY74 (reviewed: Q9NY74)
Alternative names: Ewing’s tumor-associated antigen 16
All UniProt accessions (4): Q9NY74, A0A2R8Y6Y8, A0A2R8Y7B6, A0A2R8YEV8
UniProt curated annotations — full annotation on UniProt →
Function. Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity. Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1. Probably only regulates a subset of ATR targets.
Subunit / interactions. Interacts (via RBM1 motif) with RPA1. Interacts (via RBM2 motif) with RPA2. Interacts (via the ATR-activation domain motif) with ATR.
Subcellular location. Nucleus.
Tissue specificity. Expressed at high levels in the brain, liver kidney and Ewing tumor cell lines.
Post-translational modifications. Phosphorylated by ATR.
Domain organisation. The RBM1 (RPA1-binding, also named RPA70N-binding) motif mediates interaction with RPA1. The RBM2 (RPA2-binding, also named RPA32C-binding) motif mediates interaction with RPA2. The ATR-activation domain (AAD) motif is required to bind and activate ATR.
RefSeq proteins (1): NP_061875* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029406 | ETAA1 | Family |
Pfam: PF15350
UniProt features (30 total): cross-link 7, sequence variant 5, region of interest 3, compositionally biased region 3, modified residue 3, short sequence motif 3, mutagenesis site 2, chain 1, sequence conflict 1, helix 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8JZV | X-RAY DIFFRACTION | 1.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NY74-F1 | 49.74 | 0.05 |
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 (10): 186, 464, 833, 85, 414, 442, 480, 507, 533, 535
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 106–107 | reduced ability to promote replication fork progression and integrity following dna damage. |
| 107 | reduced interaction with atr. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 155 (showing top):
GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, GOBP_REGULATION_OF_PHOSPHORYLATION, chr2p14, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, KENNY_CTNNB1_TARGETS_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION
GO Biological Process (7): DNA repair (GO:0006281), DNA damage response (GO:0006974), replication fork processing (GO:0031297), mitotic G2/M transition checkpoint (GO:0044818), positive regulation of protein serine/threonine kinase activity (GO:0071902), regulation of DNA damage checkpoint (GO:2000001), G2/M transition of mitotic cell cycle (GO:0000086)
GO Molecular Function (2): protein serine/threonine kinase activator activity (GO:0043539), protein binding (GO:0005515)
GO Cellular Component (6): nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear speck (GO:0016607), nuclear replication fork (GO:0043596), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein serine/threonine kinase activity | 2 |
| cellular anatomical structure | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| DNA-templated DNA replication maintenance of fidelity | 1 |
| mitotic cell cycle checkpoint signaling | 1 |
| negative regulation of G2/M transition of mitotic cell cycle | 1 |
| positive regulation of protein kinase activity | 1 |
| regulation of protein serine/threonine kinase activity | 1 |
| DNA damage checkpoint signaling | 1 |
| regulation of cellular response to stress | 1 |
| regulation of cell cycle checkpoint | 1 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G2/M phase transition | 1 |
| protein kinase activator activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nuclear ribonucleoprotein granule | 1 |
| nuclear chromosome | 1 |
| nucleus | 1 |
| replication fork | 1 |
| CMG complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2627 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ETAA1 | ATRIP | Q8WXE1 | 828 |
| ETAA1 | TOPBP1 | Q92547 | 825 |
| ETAA1 | SMARCAL1 | Q9NZC9 | 661 |
| ETAA1 | RPA2 | P15927 | 640 |
| ETAA1 | DNAAF10 | Q96MX6 | 634 |
| ETAA1 | STN1 | Q9H668 | 617 |
| ETAA1 | RAD9A | Q99638 | 616 |
| ETAA1 | HUS1 | O60921 | 612 |
| ETAA1 | RAD17 | O75943 | 576 |
| ETAA1 | CHEK1 | O14757 | 573 |
| ETAA1 | FBXO48 | Q5FWF7 | 504 |
| ETAA1 | RPAIN | Q86UA6 | 489 |
| ETAA1 | ATR | Q13535 | 479 |
| ETAA1 | BRD10 | Q5HYC2 | 477 |
| ETAA1 | TIPIN | Q9BVW5 | 470 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GAMMAHV.ORF10 | ETAA1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ETAA1 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| HSPA4 | HSPA8 | psi-mi:“MI:0914”(association) | 0.350 |
| CFAP184 | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| BRCA1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GABARAPL1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (180): ETAA1 (Affinity Capture-MS), ZBTB48 (Affinity Capture-MS), HIST1H4A (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), TARSL2 (Affinity Capture-MS), ETAA1 (Affinity Capture-MS), ETAA1 (Proximity Label-MS), ETAA1 (Affinity Capture-MS), RPA1 (Affinity Capture-Western), ETAA1 (Co-crystal Structure), RPA1 (Affinity Capture-MS), RPA2 (Affinity Capture-MS), RPA3 (Affinity Capture-MS), BLM (Affinity Capture-MS), RMI1 (Affinity Capture-MS)
ESM2 similar proteins: A2RRX6, A4IFU8, A5D7U0, A5PK21, A6QNQ6, B0BM16, B1H1S4, B1WC58, O43303, P16128, P51816, Q08DI1, Q14207, Q15398, Q28FY7, Q2M2Z5, Q32PP1, Q3UHX0, Q49A88, Q569L8, Q5BQN8, Q5FBB7, Q5HZI1, Q5QGS0, Q5R9I1, Q5RD97, Q5SVT3, Q5W0B1, Q6GNV6, Q6NZG4, Q6P0N0, Q6PDM4, Q6ZU52, Q7SZL5, Q7ZZH7, Q80WQ8, Q80YR6, Q86WS4, Q8CDD9, Q8IYA6
Diamond homologs: Q08DI1, Q5SVT3, Q9NY74
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
132 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 109 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1240 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:67399294:T:G | donor_gain | 1.0000 |
| 2:67399545:TTTA:T | acceptor_loss | 1.0000 |
| 2:67399546:TTAG:T | acceptor_loss | 1.0000 |
| 2:67399547:TA:T | acceptor_loss | 1.0000 |
| 2:67399549:G:A | acceptor_loss | 1.0000 |
| 2:67399622:CTCAG:C | donor_loss | 1.0000 |
| 2:67399623:TCAG:T | donor_loss | 1.0000 |
| 2:67399624:CAG:C | donor_loss | 1.0000 |
| 2:67399625:AGG:A | donor_loss | 1.0000 |
| 2:67399626:GGT:G | donor_loss | 1.0000 |
| 2:67399627:G:C | donor_loss | 1.0000 |
| 2:67399628:T:A | donor_loss | 1.0000 |
| 2:67400416:GAGTT:G | donor_gain | 1.0000 |
| 2:67402506:A:AG | donor_gain | 1.0000 |
| 2:67402851:A:AG | acceptor_gain | 1.0000 |
| 2:67402852:T:G | acceptor_gain | 1.0000 |
| 2:67402854:T:TA | acceptor_gain | 1.0000 |
| 2:67402973:AA:A | donor_gain | 1.0000 |
| 2:67402975:G:GG | donor_gain | 1.0000 |
| 2:67402980:T:G | donor_gain | 1.0000 |
| 2:67409909:A:AG | acceptor_gain | 1.0000 |
| 2:67409910:G:GG | acceptor_gain | 1.0000 |
| 2:67397535:G:GA | donor_gain | 0.9900 |
| 2:67397546:G:GT | donor_gain | 0.9900 |
| 2:67397547:G:T | donor_gain | 0.9900 |
| 2:67397651:GC:G | donor_gain | 0.9900 |
| 2:67397654:G:GG | donor_gain | 0.9900 |
| 2:67397660:G:GG | donor_gain | 0.9900 |
| 2:67397670:GG:G | donor_gain | 0.9900 |
| 2:67397671:GG:G | donor_gain | 0.9900 |
AlphaMissense
6196 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:67399264:T:A | W107R | 0.996 |
| 2:67399264:T:C | W107R | 0.996 |
| 2:67402898:T:A | W156R | 0.996 |
| 2:67402898:T:C | W156R | 0.996 |
| 2:67399266:G:C | W107C | 0.994 |
| 2:67399266:G:T | W107C | 0.994 |
| 2:67403263:T:C | L194P | 0.993 |
| 2:67402900:G:C | W156C | 0.992 |
| 2:67402900:G:T | W156C | 0.992 |
| 2:67403254:T:C | L191P | 0.992 |
| 2:67403274:T:C | F198L | 0.991 |
| 2:67403276:T:A | F198L | 0.991 |
| 2:67403276:T:G | F198L | 0.991 |
| 2:67403265:G:C | A195P | 0.990 |
| 2:67399613:G:C | R139P | 0.989 |
| 2:67403275:T:C | F198S | 0.989 |
| 2:67399607:T:A | V137D | 0.988 |
| 2:67409970:G:C | A905P | 0.988 |
| 2:67403266:C:A | A195D | 0.985 |
| 2:67409980:G:C | R908P | 0.985 |
| 2:67399595:T:C | I133T | 0.984 |
| 2:67399265:G:C | W107S | 0.983 |
| 2:67399616:T:G | I140S | 0.983 |
| 2:67399595:T:G | I133S | 0.982 |
| 2:67404522:T:C | C614R | 0.982 |
| 2:67409984:A:C | R909S | 0.982 |
| 2:67409984:A:T | R909S | 0.982 |
| 2:67409963:A:C | R902S | 0.981 |
| 2:67409963:A:T | R902S | 0.981 |
| 2:67403538:T:C | F286L | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000051421 (2:67395700 A>G), RS1000233529 (2:67401938 A>G), RS1000813346 (2:67407004 G>A), RS1000835627 (2:67400380 G>A), RS1001277180 (2:67396040 A>C,T), RS1001348797 (2:67399978 T>C), RS1001580768 (2:67397992 G>C,T), RS1001691796 (2:67404980 C>T), RS1001991630 (2:67411417 C>CTACA), RS1002389208 (2:67407344 G>A), RS1002675613 (2:67404073 C>T), RS1003058428 (2:67411100 A>G), RS1003310237 (2:67402858 A>C,G), RS1003357068 (2:67397250 A>C), RS1003364138 (2:67403236 A>G)
Disease associations
OMIM: gene MIM:613196 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
35 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002126_18 | Periodontitis (CDC/AAP) | 8.000000e-06 |
| GCST002138_5 | Waist-hip ratio | 4.000000e-06 |
| GCST002788_2 | Milk allergy | 2.000000e-06 |
| GCST002792_2 | Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia | 1.000000e-08 |
| GCST002991_14 | Pancreatic cancer | 3.000000e-09 |
| GCST003807_1 | Systolic blood pressure response to hydrochlorothiazide in hypertension | 7.000000e-06 |
| GCST003983_23 | Male-pattern baldness | 6.000000e-12 |
| GCST003992_49 | Photic sneeze reflex | 1.000000e-11 |
| GCST004518_7 | Waist-to-hip ratio adjusted for body mass index | 5.000000e-06 |
| GCST004549_13 | Endometriosis | 3.000000e-08 |
| GCST004549_31 | Endometriosis | 3.000000e-07 |
| GCST004567_137 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 1.000000e-06 |
| GCST004567_38 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 5.000000e-07 |
| GCST004567_59 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 1.000000e-07 |
| GCST004567_68 | Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) | 3.000000e-09 |
| GCST004576_127 | Waist-to-hip ratio adjusted for body mass index | 9.000000e-08 |
| GCST004576_128 | Waist-to-hip ratio adjusted for body mass index | 3.000000e-09 |
| GCST004576_96 | Waist-to-hip ratio adjusted for body mass index | 3.000000e-08 |
| GCST004576_97 | Waist-to-hip ratio adjusted for body mass index | 8.000000e-09 |
| GCST004578_105 | Waist-to-hip ratio adjusted for BMI in active individuals | 1.000000e-07 |
| GCST004578_114 | Waist-to-hip ratio adjusted for BMI in active individuals | 3.000000e-07 |
| GCST004578_14 | Waist-to-hip ratio adjusted for BMI in active individuals | 4.000000e-07 |
| GCST004578_70 | Waist-to-hip ratio adjusted for BMI in active individuals | 4.000000e-08 |
| GCST004578_88 | Waist-to-hip ratio adjusted for BMI in active individuals | 1.000000e-07 |
| GCST004744_56 | Lung adenocarcinoma | 2.000000e-06 |
| GCST004744_69 | Lung adenocarcinoma | 3.000000e-06 |
| GCST004748_83 | Lung cancer | 1.000000e-06 |
| GCST004748_84 | Lung cancer | 1.000000e-07 |
| GCST004749_94 | Lung cancer in ever smokers | 4.000000e-07 |
| GCST004749_95 | Lung cancer in ever smokers | 1.000000e-07 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004343 | waist-hip ratio |
| EFO:0007019 | milk allergy measurement |
| EFO:0006944 | systolic blood pressure change measurement |
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008002 | physical activity measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 3 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| salinomycin | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Manganese | increases abundance, affects cotreatment, decreases expression | 1 |
| Silver | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): androgenetic alopecia, endometriosis, peripheral neuropathy