NAA11
gene geneOn this page
Also known as ARD2hARD2
Summary
NAA11 (N-alpha-acetyltransferase 11, NatA catalytic subunit, HGNC:28125) is a protein-coding gene on chromosome 4q21.21, encoding N-alpha-acetyltransferase 11 (Q9BSU3). Displays alpha (N-terminal) acetyltransferase activity.
Enables protein-N-terminal amino-acid acetyltransferase activity. Involved in N-terminal protein amino acid acetylation. Located in several cellular components, including Golgi apparatus; microtubule organizing center; and nucleoplasm. Part of NatA complex.
Source: NCBI Gene 84779 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 34 total
- MANE Select transcript:
NM_032693
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28125 |
| Approved symbol | NAA11 |
| Name | N-alpha-acetyltransferase 11, NatA catalytic subunit |
| Location | 4q21.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ARD2, hARD2 |
| Ensembl gene | ENSG00000156269 |
| Ensembl biotype | protein_coding |
| OMIM | 619432 |
| Entrez | 84779 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000286794, ENST00000511542, ENST00000513733
RefSeq mRNA: 1 — MANE Select: NM_032693
NM_032693
CCDS: CCDS47084
Canonical transcript exons
ENST00000286794 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001025537 | 79325176 | 79326061 |
| ENSE00001073095 | 79316647 | 79317791 |
Expression profiles
Bgee: expression breadth ubiquitous, 119 present calls, max score 91.33.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.1861 / max 128.7892, expressed in 84 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52736 | 1.1861 | 84 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 91.33 | gold quality |
| oocyte | CL:0000023 | 90.83 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.87 | gold quality |
| right testis | UBERON:0004534 | 72.58 | gold quality |
| left testis | UBERON:0004533 | 72.45 | gold quality |
| testis | UBERON:0000473 | 72.02 | gold quality |
| tibialis anterior | UBERON:0001385 | 67.51 | silver quality |
| placenta | UBERON:0001987 | 67.32 | gold quality |
| sperm | CL:0000019 | 66.24 | gold quality |
| male germ cell | CL:0000015 | 65.04 | gold quality |
| pancreatic ductal cell | CL:0002079 | 65.02 | silver quality |
| popliteal artery | UBERON:0002250 | 61.45 | gold quality |
| tibial artery | UBERON:0007610 | 61.37 | gold quality |
| adult organism | UBERON:0007023 | 60.85 | gold quality |
| diaphragm | UBERON:0001103 | 58.90 | gold quality |
| tibial nerve | UBERON:0001323 | 58.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 58.42 | gold quality |
| ileal mucosa | UBERON:0000331 | 56.95 | silver quality |
| deltoid | UBERON:0001476 | 56.33 | gold quality |
| aorta | UBERON:0000947 | 54.87 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 52.90 | gold quality |
| upper leg skin | UBERON:0004262 | 52.30 | silver quality |
| mucosa of stomach | UBERON:0001199 | 52.09 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 52.07 | silver quality |
| lower esophagus muscularis layer | UBERON:0035833 | 51.99 | gold quality |
| lower esophagus | UBERON:0013473 | 51.88 | gold quality |
| tendon | UBERON:0000043 | 51.50 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 51.20 | gold quality |
| body of uterus | UBERON:0009853 | 50.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
39 targeting NAA11, 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-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-5695 | 99.41 | 67.48 | 1047 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-6730-5P | 98.03 | 68.12 | 1299 |
| HSA-MIR-510-5P | 97.66 | 65.82 | 916 |
| HSA-MIR-2278 | 97.30 | 66.19 | 1130 |
| HSA-MIR-148B-5P | 97.29 | 66.30 | 992 |
Literature-anchored findings (GeneRIF, showing 5)
- hARD2 (MGC10646) is a novel human protein N-alpha acetyltransferase (PMID:16638120)
- hARD2, an N-alpha-acetyltransferase has 81 % sequence identity to hARD1. Its gene may originate from a eutherian-mammal-specific retrotransposition event. hARD2-NATH complexes may be responsible for protein N-alpha-acetylation in human cells. (PMID:16638120)
- LOH in genes around D4S2964, including ARD1B and SEPT11 may play an important role in hepatocellular carcinoma development and progression (PMID:20419844)
- NAA11 expression is tissue-specific and is epigenetically regulated by DNA methylation. (PMID:22048246)
- ARD1 protein was observed at 61.0% (50/82), 54.7% (87/159), 37.9% (25/66), 36.8% (7/19) in IDC, fibroadenoma, hyperplasia, and inflammation, respectively. (PMID:22292636)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| caenorhabditis_elegans | WBGENE00000923 |
Paralogs (4): NAA10 (ENSG00000102030), NAA50 (ENSG00000121579), NAA30 (ENSG00000139977), NAA20 (ENSG00000173418)
Protein
Protein identifiers
N-alpha-acetyltransferase 11 — Q9BSU3 (reviewed: Q9BSU3)
Alternative names: N-terminal acetyltransferase complex ARD1 subunit homolog B, NatA catalytic subunit Naa11
All UniProt accessions (2): Q9BSU3, H0Y8T0
UniProt curated annotations — full annotation on UniProt →
Function. Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.
Subunit / interactions. Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA11 and NAA15. Interacts with HIF1A.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Present in several cell lines, with highest levels in MCF-7 cells (at protein level).
Similarity. Belongs to the acetyltransferase family. ARD1 subfamily.
RefSeq proteins (1): NP_116082* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000182 | GNAT_dom | Domain |
| IPR016181 | Acyl_CoA_acyltransferase | Homologous_superfamily |
| IPR045047 | Ard1-like | Family |
Pfam: PF00583
Catalyzed reactions (Rhea), 6 shown:
- N-terminal glycyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetylglycyl-[protein] + CoA + H(+) (RHEA:50496)
- N-terminal L-alanyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-alanyl-[protein] + CoA + H(+) (RHEA:50500)
- N-terminal L-seryl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-seryl-[protein] + CoA + H(+) (RHEA:50504)
- N-terminal L-valyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-valyl-[protein] + CoA + H(+) (RHEA:50508)
- N-terminal L-cysteinyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-cysteinyl-[protein] + CoA + H(+) (RHEA:50512)
- N-terminal L-threonyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-threonyl-[protein] + CoA + H(+) (RHEA:50516)
UniProt features (10 total): compositionally biased region 3, region of interest 2, sequence variant 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BSU3-F1 | 80.62 | 0.70 |
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): 186
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 64 (showing top):
GOBP_N_TERMINAL_PROTEIN_AMINO_ACID_ACETYLATION, GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_ACETYLATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_PROTEIN_ACYLATION, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, MODULE_47, GOBP_N_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION, chr4q21, GOCC_TRANSFERASE_COMPLEX, GOCC_N_TERMINAL_PROTEIN_ACETYLTRANSFERASE_COMPLEX, GOMF_ACETYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_N_ACYLTRANSFERASE_ACTIVITY, GOMF_N_ACETYLTRANSFERASE_ACTIVITY
GO Biological Process (1): N-terminal protein amino acid acetylation (GO:0006474)
GO Molecular Function (8): protein-N-terminal amino-acid acetyltransferase activity (GO:0004596), protein-N-terminal-alanine acetyltransferase activity (GO:0008999), protein N-terminal-serine acetyltransferase activity (GO:1990189), protein-N-terminal-glutamate acetyltransferase activity (GO:1990190), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), acyltransferase activity, transferring groups other than amino-acyl groups (GO:0016747)
GO Cellular Component (9): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), cytosol (GO:0005829), cilium (GO:0005929), NatA complex (GO:0031415), ciliary basal body (GO:0036064), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein-N-terminal amino-acid acetyltransferase activity | 3 |
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| microtubule organizing center | 2 |
| protein acetylation | 1 |
| N-terminal protein amino acid modification | 1 |
| protein maturation | 1 |
| protein N-acetyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| acyltransferase activity | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| N-terminal protein acetyltransferase complex | 1 |
| cilium | 1 |
Protein interactions and networks
STRING
672 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NAA11 | NAA16 | Q6N069 | 870 |
| NAA11 | NAA15 | Q9BXJ9 | 846 |
| NAA11 | NAA50 | Q9GZZ1 | 714 |
| NAA11 | NAA40 | Q86UY6 | 708 |
| NAA11 | NAA35 | Q5VZE5 | 624 |
| NAA11 | NAA60 | Q9H7X0 | 611 |
| NAA11 | NAA25 | Q14CX7 | 564 |
| NAA11 | HYPK | Q9NX55 | 503 |
| NAA11 | PSKH2 | Q96QS6 | 491 |
| NAA11 | NAA30 | Q147X3 | 472 |
| NAA11 | TEX44 | Q53QW1 | 467 |
| NAA11 | CFAP20DC | Q6ZVT6 | 444 |
| NAA11 | PLEKHN1 | Q494U1 | 431 |
| NAA11 | ZNF396 | Q96N95 | 418 |
| NAA11 | PDHA2 | P29803 | 402 |
IntAct
45 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NAA10 | NAA16 | psi-mi:“MI:0914”(association) | 0.710 |
| NAA11 | CDCA5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREBRF | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZBTB14 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TOM1 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIFAP3 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACOT12 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AP2M1 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF202 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDCA5 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC25A | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MTARC1 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EHMT2 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAALC | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA15 | NAA11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA11 | NAA16 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NAA11 | psi-mi:“MI:0192”(acetylation reaction) | 0.440 | |
| RIN2 | NAA10 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| FMNL3 | UBXN7 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | CREBRF | psi-mi:“MI:0915”(physical association) | 0.000 |
| NAA11 | EHMT2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NAA11 | TOM1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NAA11 | KIFAP3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NAA11 | ZBTB14 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (64): NAA11 (Affinity Capture-MS), NAA11 (Synthetic Lethality), NAA11 (Two-hybrid), NAA11 (Two-hybrid), NAA11 (Two-hybrid), AP2M1 (Two-hybrid), CDC25A (Two-hybrid), CREBRF (Two-hybrid), BAALC (Two-hybrid), ZNF202 (Two-hybrid), ACOT12 (Two-hybrid), MARC1 (Two-hybrid), ZBTB14 (Two-hybrid), EHMT2 (Two-hybrid), NAA11 (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QFQ6, A4IFE4, A9X1D0, B0VX69, B5FW36, C1FXW2, D1LYT2, D3Z7P3, G3MWR8, G3V6U9, O13016, O46411, O88508, O94925, O95544, P13264, P18031, P18507, P20417, P21548, P22723, P35790, P35821, P41227, P47870, P58058, Q01134, Q0VAM2, Q14722, Q1LZ53, Q2KI14, Q3ULA2, Q3UX61, Q4V8K3, Q4W5Z4, Q5RC04, Q5SRY7, Q5ZML9, Q6ZPR4, Q7RTP6
Diamond homologs: O61219, O74457, P07347, P36416, P41227, P61599, P61600, Q03503, Q05885, Q06504, Q2KI14, Q2PFM2, Q3UX61, Q4JBG0, Q4V8K3, Q58925, Q58ED9, Q6P632, Q7ZXR3, Q8SSN5, Q976C3, Q980R9, Q9BSU3, Q9FKI4, Q9QY36, Q9UTI3, A1R8Y2, A8E5V7, A9WNI5, C0ZP17, C1ATC6, C3PIU4, C6WPR7, D0L3V5, D2S4P5, D6Y4C5, E0CYC6, O05517, O34376, O74311
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 | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
119 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:79325171:AATAC:A | donor_loss | 1.0000 |
| 4:79325172:ATACC:A | donor_loss | 1.0000 |
| 4:79325173:TACC:T | donor_loss | 1.0000 |
| 4:79325174:A:AT | donor_loss | 1.0000 |
| 4:79325175:CCT:C | donor_loss | 1.0000 |
| 4:79325170:GAATA:G | donor_loss | 0.9900 |
| 4:79325219:T:TA | donor_gain | 0.9800 |
| 4:79320325:C:CT | acceptor_gain | 0.9700 |
| 4:79325179:AAG:A | donor_gain | 0.9600 |
| 4:79317790:TG:T | acceptor_gain | 0.9500 |
| 4:79317792:C:CC | acceptor_gain | 0.9400 |
| 4:79325206:G:C | donor_gain | 0.9400 |
| 4:79317792:CTGTT:C | acceptor_gain | 0.9100 |
| 4:79317795:T:TC | acceptor_gain | 0.9100 |
| 4:79317789:ATG:A | acceptor_gain | 0.9000 |
| 4:79317790:TGC:T | acceptor_loss | 0.9000 |
| 4:79317791:GC:G | acceptor_loss | 0.9000 |
| 4:79317789:ATGCT:A | acceptor_gain | 0.8900 |
| 4:79317790:TGCTG:T | acceptor_gain | 0.8900 |
| 4:79317791:GCTGT:G | acceptor_gain | 0.8900 |
| 4:79325215:G:C | donor_gain | 0.8600 |
| 4:79317795:T:C | acceptor_gain | 0.8500 |
| 4:79317788:AATG:A | acceptor_gain | 0.8300 |
| 4:79325541:T:TA | donor_gain | 0.8200 |
| 4:79317793:T:A | acceptor_gain | 0.8100 |
| 4:79325180:A:C | donor_gain | 0.8100 |
| 4:79319805:CGAAT:C | donor_gain | 0.8000 |
| 4:79325210:T:A | donor_gain | 0.8000 |
| 4:79317788:AATGC:A | acceptor_gain | 0.7800 |
| 4:79317787:AAATG:A | acceptor_gain | 0.7700 |
AlphaMissense
1528 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:79325543:C:A | R112M | 1.000 |
| 4:79325469:A:G | Y137H | 0.999 |
| 4:79325494:A:C | F128L | 0.999 |
| 4:79325494:A:T | F128L | 0.999 |
| 4:79325496:A:G | F128L | 0.999 |
| 4:79325542:C:A | R112S | 0.999 |
| 4:79325542:C:G | R112S | 0.999 |
| 4:79325543:C:G | R112T | 0.999 |
| 4:79325546:A:T | V111D | 0.999 |
| 4:79325552:A:G | L109P | 0.999 |
| 4:79325609:A:G | L90P | 0.999 |
| 4:79325658:A:G | S74P | 0.999 |
| 4:79325669:C:T | G70D | 0.999 |
| 4:79325717:C:T | G54D | 0.999 |
| 4:79325744:G:T | A45D | 0.999 |
| 4:79325824:G:C | N18K | 0.999 |
| 4:79325824:G:T | N18K | 0.999 |
| 4:79325466:A:G | Y138H | 0.998 |
| 4:79325495:A:G | F128S | 0.998 |
| 4:79325516:A:G | L121P | 0.998 |
| 4:79325552:A:T | L109Q | 0.998 |
| 4:79325633:C:G | R82P | 0.998 |
| 4:79325648:A:T | V77E | 0.998 |
| 4:79325651:G:T | A76D | 0.998 |
| 4:79325718:C:G | G54R | 0.998 |
| 4:79325745:C:G | A45P | 0.998 |
| 4:79325766:A:G | W38R | 0.998 |
| 4:79325766:A:T | W38R | 0.998 |
| 4:79325778:G:C | H34D | 0.998 |
| 4:79325790:A:G | Y30H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000039454 (4:79161882 C>T), RS1000047267 (4:79279487 C>T), RS1000057777 (4:79267581 A>G), RS1000108203 (4:79267125 T>G), RS1000118580 (4:79281756 G>C), RS1000122636 (4:79260841 A>G), RS1000128803 (4:79173047 C>A), RS1000142822 (4:79168906 G>A), RS1000149771 (4:79217782 A>G), RS1000152447 (4:79261284 T>C,G), RS1000155745 (4:79325666 T>C), RS1000184719 (4:79266634 A>G,T), RS1000193051 (4:79168643 A>G,T), RS1000202617 (4:79236494 A>G), RS1000233798 (4:79200367 T>C,G)
Disease associations
OMIM: gene MIM:619432 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): autism spectrum disorder (MONDO:0005258)
Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003059_9 | Parkinson’s disease | 1.000000e-06 |
| GCST007325_49 | General risk tolerance (MTAG) | 5.000000e-08 |
| GCST007576_213 | Chronotype | 4.000000e-08 |
| GCST009600_18 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 4.000000e-09 |
| GCST010002_9 | Refractive error | 2.000000e-65 |
| GCST011768_14 | Schizophrenia | 3.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, affects methylation | 2 |
| FR900359 | increases phosphorylation | 1 |
| butyraldehyde | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in 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 |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| 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 |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.