FAM53C
gene geneOn this page
Summary
FAM53C (family with sequence similarity 53 member C, HGNC:1336) is a protein-coding gene on chromosome 5q31.2, encoding Protein FAM53C (Q9NYF3).
The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 51307 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 76 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_016605
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1336 |
| Approved symbol | FAM53C |
| Name | family with sequence similarity 53 member C |
| Location | 5q31.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000120709 |
| Ensembl biotype | protein_coding |
| OMIM | 609372 |
| Entrez | 51307 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 15 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000239906, ENST00000434981, ENST00000505136, ENST00000505768, ENST00000506710, ENST00000507506, ENST00000511024, ENST00000511276, ENST00000511595, ENST00000512180, ENST00000513056, ENST00000889027, ENST00000889028, ENST00000889029, ENST00000889030, ENST00000927751, ENST00000927754, ENST00000927755, ENST00000927758, ENST00000927759, ENST00000960844, ENST00000960845
RefSeq mRNA: 4 — MANE Select: NM_016605
NM_001135647, NM_001350194, NM_001350195, NM_016605
CCDS: CCDS4204
Canonical transcript exons
ENST00000239906 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000764465 | 138344825 | 138345609 |
| ENSE00001038703 | 138341184 | 138341413 |
| ENSE00001937490 | 138346702 | 138349729 |
| ENSE00002048219 | 138338266 | 138338307 |
| ENSE00003595995 | 138341809 | 138341866 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 96.05.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.7232 / max 3728.7393, expressed in 1811 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 58755 | 24.5968 | 1811 |
| 58754 | 0.0717 | 25 |
| 58753 | 0.0547 | 11 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 96.05 | gold quality |
| right testis | UBERON:0004534 | 96.05 | gold quality |
| blood | UBERON:0000178 | 95.20 | gold quality |
| secondary oocyte | CL:0000655 | 94.62 | gold quality |
| testis | UBERON:0000473 | 94.46 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.88 | silver quality |
| vastus lateralis | UBERON:0001379 | 93.72 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.67 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.36 | gold quality |
| thymus | UBERON:0002370 | 93.32 | gold quality |
| gluteal muscle | UBERON:0002000 | 93.12 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 93.07 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.89 | silver quality |
| deltoid | UBERON:0001476 | 92.72 | gold quality |
| oocyte | CL:0000023 | 92.71 | gold quality |
| cerebellar vermis | UBERON:0004720 | 92.68 | gold quality |
| diaphragm | UBERON:0001103 | 92.64 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.42 | gold quality |
| male germ cell | CL:0000015 | 92.34 | gold quality |
| muscle organ | UBERON:0001630 | 92.34 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 92.34 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.31 | gold quality |
| muscle of leg | UBERON:0001383 | 92.10 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.09 | gold quality |
| muscle tissue | UBERON:0002385 | 91.93 | gold quality |
| sperm | CL:0000019 | 91.86 | gold quality |
| olfactory bulb | UBERON:0002264 | 91.71 | silver quality |
| type B pancreatic cell | CL:0000169 | 91.52 | silver quality |
| CA1 field of hippocampus | UBERON:0003881 | 91.49 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 91.39 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
172 targeting FAM53C, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
Literature-anchored findings (GeneRIF, showing 1)
- Identification of FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A. (PMID:37802655)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam53c | ENSDARG00000045127 |
| mus_musculus | Fam53c | ENSMUSG00000034300 |
| rattus_norvegicus | Fam53c | ENSRNOG00000020261 |
Paralogs (2): FAM53A (ENSG00000174137), FAM53B (ENSG00000189319)
Protein
Protein identifiers
Protein FAM53C — Q9NYF3 (reviewed: Q9NYF3)
All UniProt accessions (3): D6RE00, D6RHW3, Q9NYF3
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the FAM53 family.
RefSeq proteins (4): NP_001129119, NP_001337123, NP_001337124, NP_057689* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029356 | FAM53 | Family |
Pfam: PF15242
UniProt features (17 total): modified residue 8, region of interest 4, compositionally biased region 3, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NYF3-F1 | 52.63 | 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 (8): 162, 232, 234, 255, 273, 299, 1, 122
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 266 (showing top):
FREAC2_01, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GCANCTGNY_MYOD_Q6, CMYB_01, FOXO4_01, AP2_Q3, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GGGTGGRR_PAX4_03, CEBPB_01, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, SRF_Q5_01, GOBP_NUCLEAR_TRANSPORT, SRF_C, SOX9_B1, MYOD_01
GO Biological Process (1): protein import into nucleus (GO:0006606)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular protein transport | 1 |
| protein localization to nucleus | 1 |
| import into nucleus | 1 |
| establishment of protein localization to organelle | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
408 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM53C | FAM117B | Q6P1L5 | 518 |
| FAM53C | GLCCI1 | Q86VQ1 | 467 |
| FAM53C | DCAF7 | P61962 | 452 |
| FAM53C | FAM13B | Q9NYF5 | 447 |
| FAM53C | RNF169 | Q8NCN4 | 446 |
| FAM53C | GMNN | O75496 | 436 |
| FAM53C | KDM3B | Q7LBC6 | 419 |
| FAM53C | EPB41 | P11171 | 402 |
| FAM53C | TROAP | Q12815 | 396 |
| FAM53C | CYB561A3 | Q8NBI2 | 378 |
| FAM53C | REX1BD | Q96EN9 | 374 |
| FAM53C | CREBL2 | O60519 | 365 |
| FAM53C | DNTTIP1 | Q9H147 | 363 |
| FAM53C | PAQR4 | Q8N4S7 | 360 |
| FAM53C | TRAPPC2L | Q9UL33 | 358 |
IntAct
121 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM53C | YWHAG | psi-mi:“MI:0915”(physical association) | 0.880 |
| YWHAG | FAM53C | psi-mi:“MI:0915”(physical association) | 0.880 |
| YWHAQ | WDR62 | psi-mi:“MI:0914”(association) | 0.830 |
| YWHAH | ABLIM1 | psi-mi:“MI:0914”(association) | 0.800 |
| YWHAB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.800 |
| DCAF7 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.730 |
| FAM53C | PLK1 | psi-mi:“MI:0914”(association) | 0.730 |
| FAM53C | NCK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NCK2 | FAM53C | psi-mi:“MI:0915”(physical association) | 0.720 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.610 |
| YWHAE | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAZ | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| DCAF7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.570 |
| SFN | FAM53C | psi-mi:“MI:0915”(physical association) | 0.560 |
| HEL2 | FAM53C | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM53C | SFN | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM53C | HEL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | FAM53C | psi-mi:“MI:0915”(physical association) | 0.560 |
| SORBS3 | FAM53C | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLK1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.560 |
| FAM53C | FNTB | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (110): FAM53C (Two-hybrid), FAM53C (Two-hybrid), FAM53C (Two-hybrid), FAM53C (Two-hybrid), PLK1 (Affinity Capture-MS), DYRK1B (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), FNTB (Affinity Capture-MS), TRAF3 (Affinity Capture-MS), FAM53C (Affinity Capture-MS), FAM53C (Affinity Capture-MS), DYRK1B (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), FNTB (Affinity Capture-MS), PLK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUS0, A0A5F9ZHS7, A7E346, A7MB34, A8MZG2, B2RU40, D4A9R4, O08574, O75593, P0C1Z6, P0CG20, Q0VG99, Q0ZCJ7, Q17QH7, Q29RM2, Q2KIS6, Q2M2S6, Q2M3G4, Q2NL68, Q32LE6, Q3U1J1, Q5JXC2, Q5R815, Q5SW24, Q61660, Q63247, Q6NZ36, Q6PBC9, Q6ZN01, Q6ZRI6, Q7TN08, Q7Z591, Q80VF6, Q86WR7, Q8BG26, Q8BP99, Q8BXQ8, Q8IYS4, Q8N9Y4, Q8NAV2
Diamond homologs: E9PV82, F1QN48, H2M146, Q14153, Q29RM2, Q5R815, Q5ZKN5, Q6NSI3, Q8BGR5, Q8BXQ8, Q9NYF3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 92 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 7 | 86.0× | 1e-10 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 7 | 75.8× | 2e-10 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 7 | 75.8× | 2e-10 |
| Activation of BH3-only proteins | 7 | 56.1× | 1e-09 |
| RHO GTPases activate PKNs | 7 | 35.8× | 3e-08 |
| Intrinsic Pathway for Apoptosis | 7 | 33.1× | 5e-08 |
| FOXO-mediated transcription | 5 | 27.1× | 2e-05 |
| SARS-CoV-1-host interactions | 7 | 19.8× | 2e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein targeting | 6 | 27.5× | 2e-05 |
| intracellular protein localization | 8 | 10.5× | 1e-04 |
| protein phosphorylation | 11 | 9.3× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1048 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:138344813:A:G | acceptor_gain | 0.9900 |
| 5:138346700:A:AG | acceptor_gain | 0.9900 |
| 5:138346701:G:GG | acceptor_gain | 0.9900 |
| 5:138338841:G:GT | donor_gain | 0.9800 |
| 5:138341807:A:AG | acceptor_gain | 0.9800 |
| 5:138341808:G:GG | acceptor_gain | 0.9800 |
| 5:138345605:ATCAG:A | donor_loss | 0.9800 |
| 5:138345606:TCAGG:T | donor_loss | 0.9800 |
| 5:138345607:CAG:C | donor_loss | 0.9800 |
| 5:138345608:AG:A | donor_loss | 0.9800 |
| 5:138345609:G:GC | donor_loss | 0.9800 |
| 5:138345610:GTGGG:G | donor_loss | 0.9800 |
| 5:138345611:T:A | donor_loss | 0.9800 |
| 5:138346699:CAG:C | acceptor_loss | 0.9800 |
| 5:138346700:A:G | acceptor_loss | 0.9800 |
| 5:138337825:G:GA | donor_gain | 0.9700 |
| 5:138338305:GCG:G | donor_gain | 0.9700 |
| 5:138338314:G:GA | donor_gain | 0.9700 |
| 5:138341808:GCCTT:G | acceptor_gain | 0.9700 |
| 5:138344812:A:AG | acceptor_gain | 0.9700 |
| 5:138345559:G:GT | donor_gain | 0.9700 |
| 5:138346701:GA:G | acceptor_gain | 0.9700 |
| 5:138344823:A:AG | acceptor_gain | 0.9600 |
| 5:138344824:G:GG | acceptor_gain | 0.9600 |
| 5:138344824:GAA:G | acceptor_gain | 0.9600 |
| 5:138344906:GCC:G | donor_gain | 0.9600 |
| 5:138345394:A:AG | acceptor_gain | 0.9600 |
| 5:138345394:AGTCT:A | acceptor_gain | 0.9600 |
| 5:138345395:G:GG | acceptor_gain | 0.9600 |
| 5:138345395:GTCTG:G | acceptor_gain | 0.9600 |
AlphaMissense
2521 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:138345602:T:C | M305T | 1.000 |
| 5:138341349:T:G | I5S | 0.999 |
| 5:138341361:T:C | L9P | 0.999 |
| 5:138345546:G:C | K286N | 0.999 |
| 5:138345546:G:T | K286N | 0.999 |
| 5:138345587:T:C | L300S | 0.999 |
| 5:138341349:T:A | I5N | 0.998 |
| 5:138341349:T:C | I5T | 0.998 |
| 5:138345033:G:C | K115N | 0.998 |
| 5:138345033:G:T | K115N | 0.998 |
| 5:138345040:T:C | C118R | 0.998 |
| 5:138345112:T:A | W142R | 0.998 |
| 5:138345112:T:C | W142R | 0.998 |
| 5:138345515:G:A | C276Y | 0.998 |
| 5:138345600:G:C | K304N | 0.998 |
| 5:138345600:G:T | K304N | 0.998 |
| 5:138345603:G:A | M305I | 0.998 |
| 5:138345603:G:C | M305I | 0.998 |
| 5:138345603:G:T | M305I | 0.998 |
| 5:138346946:T:A | I389N | 0.998 |
| 5:138345041:G:A | C118Y | 0.997 |
| 5:138345042:C:G | C118W | 0.997 |
| 5:138345114:G:C | W142C | 0.997 |
| 5:138345114:G:T | W142C | 0.997 |
| 5:138345514:T:C | C276R | 0.997 |
| 5:138345544:A:G | K286E | 0.997 |
| 5:138345593:T:C | F302S | 0.997 |
| 5:138341346:T:C | L4P | 0.996 |
| 5:138345036:G:C | R116S | 0.996 |
| 5:138345036:G:T | R116S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000041722 (5:138348927 G>T), RS1000055010 (5:138344450 C>T), RS1000072915 (5:138349128 C>T), RS1000149974 (5:138342386 G>A), RS1000431470 (5:138338096 C>A,T), RS1000645448 (5:138338108 T>C), RS1000832738 (5:138350141 C>A,G), RS1001276510 (5:138342073 T>C), RS1001290691 (5:138349582 T>C), RS1001773868 (5:138343469 C>G), RS1001974600 (5:138343942 G>A), RS1002146652 (5:138337727 C>G), RS1002226197 (5:138350124 G>A), RS1002276134 (5:138337722 G>T), RS1002282383 (5:138337917 G>A,C,T)
Disease associations
OMIM: gene MIM:609372 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (2): autism (MONDO:0005260), autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002539_60 | Schizophrenia | 5.000000e-09 |
| GCST003582_1 | Response to radiotherapy in prostate cancer (toxicity, urinary frequency) | 4.000000e-08 |
| GCST004521_66 | Autism spectrum disorder or schizophrenia | 1.000000e-08 |
| GCST007201_390 | Schizophrenia | 2.000000e-07 |
| GCST007201_53 | Schizophrenia | 1.000000e-08 |
| GCST008103_73 | Bipolar disorder | 8.000000e-07 |
| GCST008115_23 | Bipolar I disorder | 2.000000e-07 |
| GCST009600_88 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009963 | bipolar I disorder |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| cobaltous chloride | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Arsenic | affects expression, affects methylation | 2 |
| Benzo(a)pyrene | increases expression | 2 |
| Cisplatin | increases expression | 2 |
| Quercetin | decreases phosphorylation, increases expression | 2 |
| Aflatoxin B1 | increases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anorexia nervosa, attention deficit-hyperactivity disorder, autism, obsessive-compulsive disorder