ARL5A
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Summary
ARL5A (ARF like GTPase 5A, HGNC:696) is a protein-coding gene on chromosome 2q23.3, encoding ADP-ribosylation factor-like protein 5A (Q9Y689). Lacks ADP-ribosylation enhancing activity.
The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes.
Source: NCBI Gene 26225 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 34 total — 2 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_012097
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:696 |
| Approved symbol | ARL5A |
| Name | ARF like GTPase 5A |
| Location | 2q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000162980 |
| Ensembl biotype | protein_coding |
| OMIM | 608960 |
| Entrez | 26225 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000295087, ENST00000428992, ENST00000446896, ENST00000458140, ENST00000487723, ENST00000487818, ENST00000495604, ENST00000899623, ENST00000899624
RefSeq mRNA: 3 — MANE Select: NM_012097
NM_001037174, NM_012097, NM_177985
CCDS: CCDS2195, CCDS46425
Canonical transcript exons
ENST00000295087 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001070294 | 151812357 | 151812440 |
| ENSE00001364904 | 151828131 | 151828421 |
| ENSE00001827771 | 151798797 | 151803324 |
| ENSE00003545881 | 151806821 | 151806972 |
| ENSE00003598930 | 151814169 | 151814316 |
| ENSE00003611645 | 151815139 | 151815199 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 96.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3913 / max 234.9255, expressed in 1820 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31292 | 21.3026 | 1804 |
| 31293 | 16.0887 | 1806 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 96.90 | gold quality |
| nipple | UBERON:0002030 | 96.10 | gold quality |
| upper arm skin | UBERON:0004263 | 96.02 | gold quality |
| tendon | UBERON:0000043 | 95.54 | gold quality |
| penis | UBERON:0000989 | 95.50 | gold quality |
| saphenous vein | UBERON:0007318 | 95.13 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.71 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 94.41 | gold quality |
| mammalian vulva | UBERON:0000997 | 93.88 | gold quality |
| oviduct epithelium | UBERON:0004804 | 93.85 | gold quality |
| monocyte | CL:0000576 | 93.75 | gold quality |
| endothelial cell | CL:0000115 | 93.40 | gold quality |
| corpus callosum | UBERON:0002336 | 93.36 | gold quality |
| leukocyte | CL:0000738 | 93.33 | gold quality |
| visceral pleura | UBERON:0002401 | 93.33 | gold quality |
| superior surface of tongue | UBERON:0007371 | 92.87 | gold quality |
| parietal pleura | UBERON:0002400 | 92.43 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.68 | gold quality |
| buccal mucosa cell | CL:0002336 | 91.56 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.39 | gold quality |
| pericardium | UBERON:0002407 | 91.25 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.21 | gold quality |
| synovial joint | UBERON:0002217 | 90.87 | gold quality |
| renal medulla | UBERON:0000362 | 90.65 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.55 | gold quality |
| pylorus | UBERON:0001166 | 90.54 | gold quality |
| gingiva | UBERON:0001828 | 90.47 | gold quality |
| cerebellar vermis | UBERON:0004720 | 90.29 | gold quality |
| muscle of leg | UBERON:0001383 | 90.27 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 90.21 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.71 |
| E-MTAB-10042 | yes | 7.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
174 targeting ARL5A, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
Literature-anchored findings (GeneRIF, showing 5)
- developmentally regulated ARL5, with its distinctive nuclear/nucleolar localization and interaction with HP1alpha, may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development (PMID:12414990)
- crystal structure (PMID:15896705)
- microRNA-202-3p inhibits cell proliferation by targeting ADP-ribosylation factor-like 5A in human colorectal carcinoma. (PMID:24327274)
- Arl5, an ARF-like family small GTPase, interacts with Ragulator in an amino acid-regulated manner and both Arl5 and its effector, the Golgi-associated retrograde protein complex (GARP), are required for the AA-stimulated trafficking. (PMID:30478271)
- The ARFRP1 functions upstream of two other ARL GTPases, ARL1 and ARL5, which in turn recruit golgins and GARP, respectively, to the trans-Golgi network (TGN). (PMID:31575603)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl5a | ENSDARG00000018627 |
| mus_musculus | Arl5a | ENSMUSG00000036093 |
| rattus_norvegicus | Arl5a | ENSRNOG00000006839 |
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), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 5A — Q9Y689 (reviewed: Q9Y689)
All UniProt accessions (2): Q9Y689, F8WER2
UniProt curated annotations — full annotation on UniProt →
Function. Lacks ADP-ribosylation enhancing activity.
Similarity. Belongs to the small GTPase superfamily. Arf family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y689-1 | 1 | yes |
| Q9Y689-2 | 2 |
RefSeq proteins (3): NP_001032251, NP_036229, NP_817114 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005225 | Small_GTP-bd | Domain |
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR024156 | Small_GTPase_ARF | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00025
UniProt features (27 total): helix 9, strand 8, binding site 4, turn 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, splice variant 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2H17 | X-RAY DIFFRACTION | 1.7 |
| 1ZJ6 | X-RAY DIFFRACTION | 2 |
| 2H16 | X-RAY DIFFRACTION | 2 |
| 1Z6Y | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y689-F1 | 91.58 | 0.82 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 23–30; 66–70; 125–128; 159
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 249 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, ATACCTC_MIR202, GOBP_VESICLE_MEDIATED_TRANSPORT, CHANDRAN_METASTASIS_DN, GOLDRATH_ANTIGEN_RESPONSE, WEI_MYCN_TARGETS_WITH_E_BOX, MARTINEZ_RB1_TARGETS_UP, GOCC_TRANS_GOLGI_NETWORK, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_PROTEIN_LOCALIZATION_TO_GOLGI_APPARATUS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_LOCALIZATION_WITHIN_MEMBRANE, MARTINEZ_RB1_AND_TP53_TARGETS_UP
GO Biological Process (3): intracellular protein transport (GO:0006886), vesicle-mediated transport (GO:0016192), protein localization to Golgi membrane (GO:1903292)
GO Molecular Function (3): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166)
GO Cellular Component (2): cytoplasm (GO:0005737), trans-Golgi network (GO:0005802)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| cellular process | 1 |
| protein localization to Golgi apparatus | 1 |
| protein localization to membrane | 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 |
| Golgi apparatus subcompartment | 1 |
Protein interactions and networks
STRING
2337 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL5A | VPS54 | Q9P1Q0 | 625 |
| ARL5A | CDKN2A | P42771 | 532 |
| ARL5A | VPS51 | Q9UID3 | 489 |
| ARL5A | RASL12 | Q9NYN1 | 475 |
| ARL5A | VPS53 | Q5VIR6 | 473 |
| ARL5A | SYS1 | Q8N2H4 | 453 |
| ARL5A | VPS50 | Q96JG6 | 446 |
| ARL5A | VPS52 | Q8N1B4 | 445 |
| ARL5A | ARFGAP3 | Q9NP61 | 412 |
| ARL5A | SLCO6A1 | Q86UG4 | 407 |
| ARL5A | GOLGA1 | Q92805 | 381 |
| ARL5A | GOLGA4 | Q13439 | 380 |
| ARL5A | NOC3L | Q8WTT2 | 378 |
| ARL5A | ANKRD13C | Q8N6S4 | 369 |
| ARL5A | RASL11B | Q9BPW5 | 358 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| S1PR2 | PALM3 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL5A | PHKA2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| ARL5B | RAD21 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (120): ARL5A (Affinity Capture-RNA), ARL5B (Negative Genetic), HSP90AB1 (Negative Genetic), RAB2A (Negative Genetic), ARL5A (Negative Genetic), SEC24A (Negative Genetic), TRAPPC12 (Negative Genetic), RAB1B (Negative Genetic), SEC24B (Negative Genetic), SEC23IP (Negative Genetic), TBL1XR1 (Negative Genetic), SEC31A (Negative Genetic), TRAPPC13 (Negative Genetic), B3GNT2 (Negative Genetic), CUL4A (Negative Genetic)
ESM2 similar proteins: A4D1S5, A6NH57, O45379, O59781, O88848, P25160, P25378, P34212, P38116, P40994, P51152, P51646, Q02804, Q0IIM2, Q13795, Q18510, Q2KJ96, Q32LJ2, Q3SXC5, Q54E92, Q54HK2, Q54I24, Q54JJ3, Q54V41, Q54V47, Q54Y14, Q54YV7, Q55AD9, Q5JT25, Q5M9P8, Q5R4G5, Q5R579, Q5RCQ6, Q60Z38, Q61DE0, Q63055, Q6P068, Q6P3A9, Q80ZU0, Q8BXL7
Diamond homologs: A6NH57, B5FYQ0, O00909, O23778, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P18085, P19146, P22274, P25160, P26990, P26991, P34212, P34727, P36397, P36405, P36406, P36407, P36579, P37996, P38116, P40616, P40940, P40945, P40946, P40994, P49076, P49702, P51643, P51644, P51645, P51646, P51821, P51822, P51823, P51824
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2424064 | NC_000002.11:g.(?152466303)(152955525_?)del | Pathogenic |
| 833295 | NC_000002.12:g.(?151485750)(151957616_?)del | Pathogenic |
| 562665 | GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1 | Likely pathogenic |
SpliceAI
946 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:151806819:ACC:A | donor_gain | 1.0000 |
| 2:151806820:CCC:C | donor_gain | 1.0000 |
| 2:151806820:CCCCT:C | donor_gain | 1.0000 |
| 2:151812353:TTAC:T | donor_loss | 1.0000 |
| 2:151812356:C:CG | donor_loss | 1.0000 |
| 2:151812437:CAAA:C | acceptor_gain | 1.0000 |
| 2:151812438:AAAC:A | acceptor_loss | 1.0000 |
| 2:151812439:AA:A | acceptor_gain | 1.0000 |
| 2:151812439:AAC:A | acceptor_loss | 1.0000 |
| 2:151812440:AC:A | acceptor_loss | 1.0000 |
| 2:151812441:C:CC | acceptor_gain | 1.0000 |
| 2:151812441:CTAAA:C | acceptor_loss | 1.0000 |
| 2:151814168:CCT:C | donor_gain | 1.0000 |
| 2:151814312:TAGAA:T | acceptor_gain | 1.0000 |
| 2:151814317:C:CC | acceptor_gain | 1.0000 |
| 2:151815134:CTT:C | donor_loss | 1.0000 |
| 2:151815135:TTACA:T | donor_loss | 1.0000 |
| 2:151815136:TACA:T | donor_loss | 1.0000 |
| 2:151815137:A:AC | donor_gain | 1.0000 |
| 2:151815137:ACAA:A | donor_loss | 1.0000 |
| 2:151815138:C:CC | donor_gain | 1.0000 |
| 2:151815138:CA:C | donor_gain | 1.0000 |
| 2:151815138:CAA:C | donor_gain | 1.0000 |
| 2:151815138:CAAT:C | donor_gain | 1.0000 |
| 2:151815138:CAATT:C | donor_gain | 1.0000 |
| 2:151815200:C:CC | acceptor_gain | 1.0000 |
| 2:151803321:CAAT:C | acceptor_gain | 0.9900 |
| 2:151806814:GTCTT:G | donor_loss | 0.9900 |
| 2:151806815:TCTTA:T | donor_loss | 0.9900 |
| 2:151806816:CTTAC:C | donor_loss | 0.9900 |
AlphaMissense
1188 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:151806934:T:A | K126N | 1.000 |
| 2:151806934:T:G | K126N | 1.000 |
| 2:151806935:T:A | K126I | 1.000 |
| 2:151814227:T:G | D66A | 1.000 |
| 2:151815157:G:A | T30I | 1.000 |
| 2:151815164:C:A | G28W | 1.000 |
| 2:151806841:G:C | C157W | 0.999 |
| 2:151806935:T:G | K126T | 0.999 |
| 2:151806936:T:C | K126E | 0.999 |
| 2:151806941:G:T | A124D | 0.999 |
| 2:151812427:A:T | V90D | 0.999 |
| 2:151814195:A:G | W77R | 0.999 |
| 2:151814195:A:T | W77R | 0.999 |
| 2:151814227:T:A | D66V | 0.999 |
| 2:151814227:T:C | D66G | 0.999 |
| 2:151814228:C:G | D66H | 0.999 |
| 2:151814231:A:G | W65R | 0.999 |
| 2:151814231:A:T | W65R | 0.999 |
| 2:151814278:C:T | G49E | 0.999 |
| 2:151815160:T:A | K29I | 0.999 |
| 2:151815161:T:G | K29Q | 0.999 |
| 2:151815163:C:A | G28V | 0.999 |
| 2:151815163:C:T | G28E | 0.999 |
| 2:151815164:C:G | G28R | 0.999 |
| 2:151815164:C:T | G28R | 0.999 |
| 2:151815178:C:T | G23E | 0.999 |
| 2:151815179:C:A | G23W | 0.999 |
| 2:151815179:C:G | G23R | 0.999 |
| 2:151815179:C:T | G23R | 0.999 |
| 2:151806836:G:T | A159D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000148491 (2:151825691 G>A), RS1000238548 (2:151800027 T>C), RS1000288134 (2:151830314 A>G), RS1000483717 (2:151800349 C>A,T), RS1000534599 (2:151824799 A>G), RS1000716246 (2:151800011 C>T), RS1000774209 (2:151801587 A>G), RS1000853691 (2:151815236 A>G), RS1000915064 (2:151821095 A>C), RS1001116903 (2:151826900 T>C,G), RS1001165399 (2:151801206 CCACTA>C), RS1001230467 (2:151804173 T>C), RS1001326116 (2:151800779 G>A), RS1001386927 (2:151809852 C>T), RS1001481657 (2:151809516 C>G)
Disease associations
OMIM: gene MIM:608960 | disease phenotypes: MIM:256030, MIM:600669
GenCC curated gene-disease
Mondo (2): nemaline myopathy 2 (MONDO:0009725), idiopathic generalized epilepsy (MONDO:0005579)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003469_11 | Response to cognitive-behavioural therapy in anxiety disorder | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007820 | cognitive behavioural therapy |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C562694 | Epilepsy, Idiopathic Generalized (supp.) | |
| C538349 | Nemaline Myopathy 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Arsenic | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 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 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Demecolcine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | increases expression | 1 |
| Lead | affects splicing | 1 |
| Manganese | increases expression, affects cotreatment, increases abundance | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Potassium Dichromate | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Vincristine | decreases expression | 1 |
Clinical trials (associated diseases)
21 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03590197 | PHASE4 | COMPLETED | Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy |
| NCT03940326 | PHASE4 | COMPLETED | Levetiracetam Versus Valproate in Idiopathic Generalized Tonic-clonic Seizures |
| NCT00150735 | PHASE3 | COMPLETED | Monotherapy With Levetiracetam in Newly Diagnosed Patients Suffering From Epilepsy |
| NCT00150748 | PHASE3 | COMPLETED | Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy |
| NCT03678753 | PHASE3 | COMPLETED | Randomized, Double-Blind Study to Evaluate Efficacy and Safety of Cenobamate Adjunctive Therapy in PGTC Seizures |
| NCT05147571 | PHASE3 | ACTIVE_NOT_RECRUITING | RNS System NAUTILUS Study |
| NCT06908356 | PHASE2 | RECRUITING | An Open Label Trial to Evaluate the Efficacy and Safety of PRAX-628 in Adults With Focal Onset or Tonic-Clonic Seizures |
| NCT06425159 | PHASE2/PHASE3 | TERMINATED | A Study to Determine if BHV-7000 is Effective and Safe in Adults With Idiopathic Generalized Epilepsy With Generalized Tonic-clonic Seizures |
| NCT00001325 | Not specified | COMPLETED | Metabolic Abnormalities in Children With Epilepsy |
| NCT00916903 | Not specified | TERMINATED | Genetic Disease Gene Identification |
| NCT01311440 | Not specified | COMPLETED | Modified Atkins Diet Treatment for Adults With Drug-resistant Epilepsy |
| NCT01432821 | Not specified | COMPLETED | Blinking and Yawning in Epilepsy: The Role of Dopamine |
| NCT03368469 | Not specified | WITHDRAWN | Transcranial Direct Current Stimulation (tDCS) in Children and Adolescents With Epilepsy and Depression |
| NCT03457961 | Not specified | UNKNOWN | Post-market Study of AMPA Receptor Antagonists for Epilepsy Patients in Hong Kong |
| NCT03955432 | Not specified | TERMINATED | Long-term Cardiac Monitoring in Epilepsy |
| NCT04252846 | Not specified | COMPLETED | A Study to Investigate Dosage, Effectiveness, and Safety of Perampanel When Used as First Add-on Therapy in Participants >=12 Years With Partial Onset Seizures With or Without Secondary Generalization or With Primary Generalized Tonic-Clonic Seizures Associated With Idiopathic Generalized Epilepsy |
| NCT04965571 | Not specified | COMPLETED | Clinical Features and Outcome of Wilson’s Disease With Generalized Epilepsy in Chinese Patients |
| NCT05374928 | Not specified | ACTIVE_NOT_RECRUITING | Human Epilepsy Project 3 |
| NCT05530109 | Not specified | TERMINATED | Study of Attentional Disorders in Patients Suffering From Idiopathic Generalized Epilepsy. |
| NCT06388174 | Not specified | RECRUITING | Idiopathic Generalized Epilepsy Syndromes |
| NCT06797791 | Not specified | COMPLETED | Assessment of Multifocal Continuous Theta Burst Transcranial Magnetic Stimulation (cTBS) Effects in Generalized Epilepsy Patients. |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): idiopathic generalized epilepsy, nemaline myopathy 2