ARL17A
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Summary
ARL17A (ARF like GTPase 17A, HGNC:24096) is a protein-coding gene on chromosome 17q21.31, encoding Putative ADP-ribosylation factor-like protein 17A (Q8IVW1). Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form.
Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane.
Source: NCBI Gene 51326 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 185 total — 4 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_001113738
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24096 |
| Approved symbol | ARL17A |
| Name | ARF like GTPase 17A |
| Location | 17q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000185829 |
| Ensembl biotype | protein_coding |
| Entrez | 51326 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 19 protein_coding, 7 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000329240, ENST00000336125, ENST00000445552, ENST00000570550, ENST00000573185, ENST00000622488, ENST00000628873, ENST00000706245, ENST00000706246, ENST00000706247, ENST00000706248, ENST00000706249, ENST00000706250, ENST00000706251, ENST00000706252, ENST00000706253, ENST00000706254, ENST00000706255, ENST00000706256, ENST00000706257, ENST00000706258, ENST00000706259, ENST00000706260, ENST00000706261, ENST00000706302, ENST00000706303, ENST00000706304
RefSeq mRNA: 7 — MANE Select: NM_001113738
NM_001113738, NM_001288811, NM_001288812, NM_001288813, NM_001330244, NM_001411134, NM_016632
CCDS: CCDS45717, CCDS45718, CCDS74086, CCDS74087, CCDS82146, CCDS92351
Canonical transcript exons
ENST00000336125 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001706295 | 46552756 | 46557630 |
| ENSE00002370780 | 46576175 | 46576339 |
| ENSE00003806456 | 46570759 | 46570869 |
| ENSE00003995309 | 46579601 | 46579691 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.03.
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 91.03 | gold quality |
| bone marrow cell | CL:0002092 | 88.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.14 | gold quality |
| sural nerve | UBERON:0015488 | 86.18 | gold quality |
| tonsil | UBERON:0002372 | 85.63 | gold quality |
| cortical plate | UBERON:0005343 | 85.55 | gold quality |
| cerebellar cortex | UBERON:0002129 | 85.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 85.14 | gold quality |
| cerebellum | UBERON:0002037 | 85.11 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.91 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.80 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 84.58 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.48 | gold quality |
| bone marrow | UBERON:0002371 | 84.13 | gold quality |
| right coronary artery | UBERON:0001625 | 83.45 | gold quality |
| monocyte | CL:0000576 | 83.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.20 | gold quality |
| ventricular zone | UBERON:0003053 | 83.18 | gold quality |
| muscle tissue | UBERON:0002385 | 83.14 | gold quality |
| endometrium | UBERON:0001295 | 82.78 | gold quality |
| prostate gland | UBERON:0002367 | 82.76 | gold quality |
| leukocyte | CL:0000738 | 82.61 | gold quality |
| left ovary | UBERON:0002119 | 82.61 | gold quality |
| pituitary gland | UBERON:0000007 | 82.53 | gold quality |
| ovary | UBERON:0000992 | 82.38 | gold quality |
| body of uterus | UBERON:0009853 | 82.32 | gold quality |
| popliteal artery | UBERON:0002250 | 82.30 | gold quality |
| ectocervix | UBERON:0012249 | 82.30 | gold quality |
| tibial artery | UBERON:0007610 | 82.29 | gold quality |
| blood | UBERON:0000178 | 82.22 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.48 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): TP53
miRNA regulators (miRDB)
29 targeting ARL17A, 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-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-3973 | 99.20 | 69.19 | 1990 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-3926 | 98.95 | 69.26 | 1438 |
| HSA-MIR-1288-5P | 98.85 | 67.01 | 734 |
| HSA-MIR-2467-3P | 98.65 | 67.18 | 1969 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-1265 | 98.36 | 66.46 | 598 |
| HSA-MIR-6847-5P | 97.93 | 66.74 | 1808 |
| HSA-MIR-4433B-3P | 97.22 | 63.62 | 663 |
| HSA-MIR-4445-5P | 97.21 | 66.16 | 832 |
| HSA-MIR-6762-5P | 96.55 | 64.62 | 972 |
| HSA-MIR-6845-5P | 96.55 | 64.65 | 969 |
| HSA-MIR-4280 | 96.44 | 67.69 | 473 |
| HSA-MIR-3135A | 96.41 | 65.30 | 494 |
| HSA-MIR-601 | 95.98 | 67.59 | 421 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arf2a | ENSDARG00000014763 |
| mus_musculus | Arf2 | ENSMUSG00000062421 |
| rattus_norvegicus | Arf1 | ENSRNOG00000004807 |
| drosophila_melanogaster | Arf1 | FBGN0010348 |
| caenorhabditis_elegans | WBGENE00000182 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL8A (ENSG00000143862), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
Putative ADP-ribosylation factor-like protein 17A — Q8IVW1 (reviewed: Q8IVW1)
All UniProt accessions (14): A0A087WVX3, A0A087WY76, A0A994J582, A0A994J5A8, A0A994J5H2, A0A994J5U5, A0A994J7P5, A0A994J7P8, A8K0M5, Q8IVW1, I3L1A0, I3L1V5, I3L2E4, I3L3L1
UniProt curated annotations — full annotation on UniProt →
Function. Putative small GTP-binding protein cycling between an inactive GDP-bound and an active GTP-bound form.
Similarity. Belongs to the small GTPase superfamily. Arf family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IVW1-1 | 1 | yes |
| Q8IVW1-2 | 2 | |
| Q8IVW1-4 | 4 |
RefSeq proteins (8): NP_001107210, NP_001275740, NP_001275741, NP_001275742, NP_001317169, NP_001317173, NP_001398063, NP_057716 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR024156 | Small_GTPase_ARF | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR031687 | ARL17_C | Domain |
Pfam: PF00025, PF15840
UniProt features (8 total): splice variant 2, initiator methionine 1, chain 1, region of interest 1, lipid moiety-binding region 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IVW1-F1 | 53.86 | 0.00 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 81 (showing top):
CCAWYNNGAAR_UNKNOWN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, WALLACE_PROSTATE_CANCER_RACE_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, YGCGYRCGC_UNKNOWN, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, chr12q24, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, HMGIY_Q6, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, DAVICIONI_MOLECULAR_ARMS_VS_ERMS_UP, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, NFY_Q6_01, ZWANG_DOWN_BY_2ND_EGF_PULSE, PTEN_DN.V1_DN
GO Biological Process (3): intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), protein transport (GO:0015031)
GO Molecular Function (3): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166)
GO Cellular Component (3): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 2 |
| transport | 2 |
| protein transport | 1 |
| intracellular transport | 1 |
| cellular process | 1 |
| establishment of protein localization | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1961 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL17A | KANSL1 | Q7Z3B3 | 769 |
| ARL17A | LRRC37A2 | A6NM11 | 720 |
| ARL17A | LRRC37A | A6NMS7 | 714 |
| ARL17A | LRRC37A3 | O60309 | 712 |
| ARL17A | ARHGAP27 | Q6ZUM4 | 558 |
| ARL17A | PLEKHM1 | Q9Y4G2 | 512 |
| ARL17A | SPPL2C | Q8IUH8 | 479 |
| ARL17A | ARL16 | Q0P5N6 | 447 |
| ARL17A | NXPE3 | Q969Y0 | 445 |
| ARL17A | SLC29A4 | Q7RTT9 | 402 |
| ARL17A | CRHR1 | P34998 | 400 |
| ARL17A | R3HDM2 | Q9Y2K5 | 400 |
| ARL17A | MAPT | P10636 | 398 |
| ARL17A | RIPOR1 | Q6ZS17 | 375 |
| ARL17A | ARL9 | Q6T311 | 374 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TSPAN3 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC31A1 | C2orf72 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL17A | GGT7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| KCNA2 | TMEM129 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH10 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTMP | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| PIPSL | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| FTL | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM74 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF149 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| CX3CL1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| MICB | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| LHFPL2 | SRC | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (22): ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-RNA), ARL17A (Affinity Capture-MS), GGT7 (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS), ARL17A (Affinity Capture-MS)
ESM2 similar proteins: A0A3T0QHT2, A0A5Q0QMX6, A1A4F0, C0H3V9, F4IXT6, N4WW42, O05023, O59008, O81514, P03850, P08834, P0CF86, P0CF87, P0CV25, P19680, P26947, P37143, P39351, P44218, P49997, P55457, P84705, P84714, P86265, P92512, P92516, P92520, P92522, P92523, P92555, P93281, P93290, Q04616, Q04977, Q06517, Q13278, Q13670, Q14T82, Q2UPB6, Q2XXR3
Diamond homologs: O00909, O23778, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P18085, P19146, P22274, P25160, P26990, P26991, P34212, P34727, P36397, P36406, P36407, P36579, P38116, P40616, P40940, P40945, P40946, P40994, P49076, P49702, P49703, P51643, P51644, P51645, P51646, P51821, P51822, P51823, P51824, P56559, P61204, P61205
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
185 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 1 |
| Uncertain significance | 131 |
| Likely benign | 27 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 150568 | GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1 | Pathogenic |
| 4083492 | GRCh37/hg19 17q21.31(chr17:43861911-44630815)x1 | Pathogenic |
| 57050 | GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1 | Pathogenic |
| 815938 | GRCh37/hg19 17q21.31(chr17:43655356-44784639)x3 | Pathogenic |
| 3338434 | GRCh37/hg19 17q21.31(chr17:44248221-44772028)x1 | Likely pathogenic |
SpliceAI
2271 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:46520284:G:GG | donor_gain | 1.0000 |
| 17:46520288:G:GG | donor_gain | 1.0000 |
| 17:46523156:G:GG | donor_gain | 1.0000 |
| 17:46523882:GTT:G | donor_gain | 1.0000 |
| 17:46540878:AACT:A | donor_gain | 1.0000 |
| 17:46540879:ACT:A | donor_gain | 1.0000 |
| 17:46540880:CT:C | donor_gain | 1.0000 |
| 17:46540881:TGTAA:T | donor_loss | 1.0000 |
| 17:46540882:G:C | donor_loss | 1.0000 |
| 17:46540882:G:GG | donor_gain | 1.0000 |
| 17:46540883:T:TC | donor_loss | 1.0000 |
| 17:46546371:GTC:G | donor_gain | 1.0000 |
| 17:46546374:G:GG | donor_gain | 1.0000 |
| 17:46546408:T:G | donor_gain | 1.0000 |
| 17:46546408:T:TG | donor_gain | 1.0000 |
| 17:46553393:A:AG | acceptor_gain | 1.0000 |
| 17:46553398:A:C | acceptor_loss | 1.0000 |
| 17:46553399:GAT:G | acceptor_gain | 1.0000 |
| 17:46553399:GATAT:G | acceptor_gain | 1.0000 |
| 17:46555280:TCTA:T | acceptor_loss | 1.0000 |
| 17:46555282:TAG:T | acceptor_loss | 1.0000 |
| 17:46555283:A:AG | acceptor_gain | 1.0000 |
| 17:46555283:AG:A | acceptor_gain | 1.0000 |
| 17:46555283:AGGAT:A | acceptor_gain | 1.0000 |
| 17:46555284:G:GG | acceptor_gain | 1.0000 |
| 17:46555284:GG:G | acceptor_gain | 1.0000 |
| 17:46555284:GGA:G | acceptor_gain | 1.0000 |
| 17:46555284:GGAT:G | acceptor_gain | 1.0000 |
| 17:46555284:GGATG:G | acceptor_gain | 1.0000 |
| 17:46555417:GACCC:G | donor_gain | 1.0000 |
AlphaMissense
1166 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:46570865:G:C | F51L | 0.987 |
| 17:46570865:G:T | F51L | 0.987 |
| 17:46570867:A:G | F51L | 0.987 |
| 17:46570822:A:G | W66R | 0.951 |
| 17:46570822:A:T | W66R | 0.951 |
| 17:46576251:A:C | S24R | 0.943 |
| 17:46576251:A:T | S24R | 0.943 |
| 17:46576253:T:G | S24R | 0.943 |
| 17:46576234:T:A | K30I | 0.942 |
| 17:46570829:G:C | F63L | 0.930 |
| 17:46570829:G:T | F63L | 0.930 |
| 17:46570831:A:G | F63L | 0.930 |
| 17:46570775:A:C | F81L | 0.928 |
| 17:46570775:A:T | F81L | 0.928 |
| 17:46570777:A:G | F81L | 0.928 |
| 17:46570820:C:A | W66C | 0.917 |
| 17:46570820:C:G | W66C | 0.917 |
| 17:46576264:A:G | I20T | 0.909 |
| 17:46570817:A:C | D67E | 0.908 |
| 17:46570817:A:T | D67E | 0.908 |
| 17:46570866:A:G | F51S | 0.907 |
| 17:46576233:T:A | K30N | 0.907 |
| 17:46576233:T:G | K30N | 0.907 |
| 17:46570824:A:T | V65D | 0.902 |
| 17:46570786:A:G | W78R | 0.900 |
| 17:46570786:A:T | W78R | 0.900 |
| 17:46576213:A:G | L37S | 0.900 |
| 17:46576231:G:A | T31I | 0.900 |
| 17:46570818:T:C | D67G | 0.894 |
| 17:46570818:T:G | D67A | 0.893 |
dbSNP variants (sampled 300 via entrez): RS1000032920 (17:46553066 A>G), RS1000040171 (17:46533354 T>A,G), RS1000302562 (17:46511301 A>G), RS1000413102 (17:46516336 T>C), RS1000542732 (17:46551406 T>C), RS1001153620 (17:46520269 A>C,G), RS1001393235 (17:46549605 A>G), RS1001700977 (17:46504948 A>C,G), RS1001719948 (17:46550862 AATG>A), RS1001771499 (17:46533199 C>T), RS1002083840 (17:46517535 C>T), RS1002151698 (17:46506163 T>G), RS1002434760 (17:46516873 A>G), RS1002545847 (17:46502328 G>A), RS1003179453 (17:46530646 A>G)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:189800, MIM:610443
GenCC curated gene-disease
Mondo (2): preeclampsia (MONDO:0005081), Koolen-de Vries syndrome (MONDO:0012496)
Orphanet (2): Preeclampsia (Orphanet:275555), Koolen-De Vries syndrome (Orphanet:96169)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004621_193 | Red cell distribution width | 3.000000e-32 |
| GCST006268_228 | Reaction time | 2.000000e-16 |
| GCST006661_283 | Male-pattern baldness | 4.000000e-27 |
| GCST007267_238 | Systolic blood pressure | 2.000000e-12 |
| GCST007269_306 | Pulse pressure | 9.000000e-16 |
| GCST007592_2 | Handedness (Left-handed vs. non-left-handed) | 1.000000e-09 |
| GCST007594_2 | Handedness (Right-handed vs. non-right-handed) | 2.000000e-08 |
| GCST008839_128 | Height | 4.000000e-08 |
| GCST010135_31 | Oily fish consumption | 5.000000e-09 |
| GCST010140_21 | Pork consumption | 5.000000e-09 |
| GCST010703_91 | Brain morphology (MOSTest) | 2.000000e-65 |
| GCST011207_4 | Left ventricular mass | 2.000000e-06 |
| GCST011208_6 | Left ventricular mass to end-diastolic volume ratio | 4.000000e-07 |
| GCST011214_7 | Left ventricle wall thickness | 2.000000e-11 |
| GCST90002391_94 | Mean corpuscular hemoglobin concentration | 3.000000e-10 |
| GCST90010427_24 | Left–right brain asymmetry | 8.000000e-15 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009188 | Red cell distribution width |
| EFO:0008393 | reaction time measurement |
| EFO:0006335 | systolic blood pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0009902 | handedness |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0009289 | left ventricular mass |
| EFO:0010556 | Left ventricular mass to end-diastolic volume ratio |
| EFO:0008205 | left ventricular structural measurement |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011225 | Pre-Eclampsia | C12.050.703.395.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases expression | 1 |
| chlorophyllin | increases expression, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases expression, decreases reaction | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Vanadates | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | PHASE4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | PHASE4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | PHASE4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | PHASE4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | PHASE4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | PHASE4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | PHASE4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | PHASE4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | PHASE4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | PHASE4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | PHASE4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | PHASE4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | PHASE4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | PHASE4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | PHASE4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | PHASE4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | PHASE4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | PHASE4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | PHASE4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | PHASE4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | PHASE4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | PHASE4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | PHASE4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | PHASE4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | PHASE4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | PHASE4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | PHASE4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | PHASE4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | PHASE4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | PHASE4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | PHASE4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | PHASE4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | PHASE4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | PHASE4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | PHASE4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | PHASE4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | PHASE4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | PHASE4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | PHASE4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | PHASE4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Koolen-de Vries syndrome, preeclampsia