NAA30

Summary

NAA30 (N-alpha-acetyltransferase 30, NatC catalytic subunit, HGNC:19844) is a protein-coding gene on chromosome 14q22.3, encoding N-alpha-acetyltransferase 30 (Q147X3). Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. It is a selective cancer dependency (DepMap: 15.4% of cell lines).

Enables protein-N-terminal amino-acid acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex.

Source: NCBI Gene 122830 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 48 total — 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 15.4% of screened cell lines
• MANE Select transcript: NM_001011713

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19844
Approved symbol	NAA30
Name	N-alpha-acetyltransferase 30, NatC catalytic subunit
Location	14q22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ35355, MAK3, Mak3p
Ensembl gene	ENSG00000139977
Ensembl biotype	protein_coding
OMIM	617989
Entrez	122830

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000298406, ENST00000554703, ENST00000555166, ENST00000556492, ENST00000884591, ENST00000884592, ENST00000884593, ENST00000927998

RefSeq mRNA: 1 — MANE Select: NM_001011713 NM_001011713

CCDS: CCDS32088

Canonical transcript exons

ENST00000556492 — 5 exons

Exon	Start	End
ENSE00001001942	57399828	57399883
ENSE00001208347	57390957	57391728
ENSE00001208361	57390586	57390705
ENSE00002439648	57409379	57415906
ENSE00003531522	57396752	57396875

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 97.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.1825 / max 265.8441, expressed in 1807 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139809	22.1825	1807

Top tissues by expression

261 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	97.60	gold quality
tibialis anterior	UBERON:0001385	96.69	gold quality
deltoid	UBERON:0001476	95.92	gold quality
endothelial cell	CL:0000115	94.78	gold quality
oocyte	CL:0000023	94.56	gold quality
vastus lateralis	UBERON:0001379	93.80	gold quality
quadriceps femoris	UBERON:0001377	93.75	gold quality
biceps brachii	UBERON:0001507	93.71	gold quality
left ventricle myocardium	UBERON:0006566	93.61	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.45	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.64	gold quality
skeletal muscle tissue	UBERON:0001134	92.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.11	gold quality
muscle tissue	UBERON:0002385	91.15	gold quality
ileal mucosa	UBERON:0000331	91.03	gold quality
epithelial cell of pancreas	CL:0000083	90.95	silver quality
cortical plate	UBERON:0005343	90.83	gold quality
pancreatic ductal cell	CL:0002079	90.80	gold quality
skeletal muscle organ	UBERON:0014892	90.32	gold quality
gastrocnemius	UBERON:0001388	89.78	gold quality
muscle of leg	UBERON:0001383	89.57	gold quality
myocardium	UBERON:0002349	89.54	gold quality
sperm	CL:0000019	87.80	gold quality
adrenal tissue	UBERON:0018303	87.77	gold quality
pigmented layer of retina	UBERON:0001782	87.72	gold quality
retina	UBERON:0000966	87.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.68	gold quality
islet of Langerhans	UBERON:0000006	87.52	gold quality
embryo	UBERON:0000922	87.47	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

307 targeting NAA30, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• Human Naa30 (MAK3) is the catalytic subunit of the human NatC N-terminal acetyltransferase complex. NatC acetylates hydrophobic Met-starting N-termini, and NatC knockdown induces p53-dependent apoptosis. (PMID:19398576)
• NAT12/NAA30 plays an important role in growth and survival of GICs possibly by regulating hypoxia response (HIF1a), levels of p-MTOR (Ser2448) and the p53 pathway. (PMID:26292663)
• Data show that the human NatC complex Nt-acetylates a broad range of cellular proteins, and that depletion of the catalytic subunit Naa30 affects mitochondrial morphology and function. (PMID:27694331)
• ARFRP1 shifted from a predominantly cis-Golgi and endosome-to-trans-Golgi network localization to localizing both Golgi and non-Golgi vesicular structures in hNaa30-depleted cells. (PMID:28356483)
• Overexpression of full-length Naa30 increased cell viability. (PMID:29247799)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	naa30	ENSDARG00000079686
mus_musculus	Naa30	ENSMUSG00000036282
rattus_norvegicus	Naa30	ENSRNOG00000014192
drosophila_melanogaster	Naa30A	FBGN0024362
drosophila_melanogaster	Naa30B	FBGN0052319
caenorhabditis_elegans		WBGENE00015074

Paralogs (4): NAA10 (ENSG00000102030), NAA50 (ENSG00000121579), NAA11 (ENSG00000156269), NAA20 (ENSG00000173418)

Protein

Protein identifiers

N-alpha-acetyltransferase 30 — Q147X3 (reviewed: Q147X3)

Alternative names: N-acetyltransferase 12, N-acetyltransferase MAK3 homolog, NatC catalytic subunit

All UniProt accessions (4): Q147X3, B4DK34, G3V3I2, J3KNC2

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic subunit of the N-terminal acetyltransferase C (NatC) complex. Catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Leu-Ala and Met-Leu-Gly. N-terminal acetylation protects proteins from ubiquitination and degradation by the N-end rule pathway. Necessary for the lysosomal localization and function of ARL8B sugeesting that ARL8B is a NatC substrate.

Subunit / interactions. Component of the N-terminal acetyltransferase C (NatC) complex, which is composed of NAA35, NAA38 and NAA30.

Subcellular location. Cytoplasm. Nucleus.

Similarity. Belongs to the acetyltransferase family. MAK3 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q147X3-1	1	yes
Q147X3-2	2

RefSeq proteins (1): NP_001011713* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000182	GNAT_dom	Domain
IPR016181	Acyl_CoA_acyltransferase	Homologous_superfamily
IPR044542	NAA30-like	Family

Pfam: PF00583

Enzyme classification (BRENDA):

• EC 2.3.1.256 — N-terminal methionine Nalpha-acetyltransferase NatC (BRENDA: 8 organisms, 66 substrates, 0 inhibitors, 54 Km, 53 kcat entries)

Substrate kinetics (BRENDA)

22 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
MFHLVGSRRR	0.08–0.55	17
MLRFVTKRWGRPVGRRRRP	0.0007–0.152	14
MLRFVGSRRR	0.02–3.8	2
ACETYL-COA	0.03	1
MAHLVGSRRR	0.08	1
MEHLVGSRRR	6	1
MFALVGSRRR	0.02	1
MFELVGSRRR	3.6	1
MFHAVGSRRR	0.02	1
MFHEVGSRRR	2.1	1
MFHFVGSRRR	0.028	1
MFHLEGSRRR	0.62	1
MFRLVGSRRR	0.027	1
MKHLVGSRRR	1.19	1
MLEFVGSRRR	0.27	1

Catalyzed reactions (Rhea), 5 shown:

• N-terminal L-methionyl-L-leucyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-leucyl-[protein] + CoA + H(+) (RHEA:50520)
• N-terminal L-methionyl-L-isoleucyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-isoleucyl-[protein] + CoA + H(+) (RHEA:50524)
• N-terminal L-methionyl-L-phenylalanyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-phenylalanyl-[protein] + CoA + H(+) (RHEA:50528)
• N-terminal L-methionyl-L-tyrosyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-tyrosyl-[protein] + CoA + H(+) (RHEA:50532)
• N-terminal L-methionyl-L-tryptophyl-[protein] + acetyl-CoA = N-terminal N(alpha)-acetyl-L-methionyl-L-tryptophyl-[protein] + CoA + H(+) (RHEA:50560)

UniProt features (31 total): modified residue 8, strand 8, helix 5, compositionally biased region 4, region of interest 3, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7RB3	ELECTRON MICROSCOPY	3.1
7MX2	ELECTRON MICROSCOPY	3.64

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q147X3-F1	65.74	0.43

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): 55, 117, 152, 190, 196, 199, 233, 39

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6811440	Retrograde transport at the Trans-Golgi-Network
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic

MSigDB gene sets: 216 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GCM_MAP4K4, GCM_PTPRD, GCM_GSPT1, TGCACTT_MIR519C_MIR519B_MIR519A, GCM_ZNF198, REACTOME_MEMBRANE_TRAFFICKING, CATTTCA_MIR203, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_PROTEIN_STABILIZATION, CAATGCA_MIR33, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, GOBP_REGULATION_OF_PROTEIN_STABILITY, GCM_SUFU

GO Biological Process (4): protein stabilization (GO:0050821), cytoplasmic translation (GO:0002181), N-terminal peptidyl-methionine acetylation (GO:0017196), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)

GO Molecular Function (6): protein-N-terminal amino-acid acetyltransferase activity (GO:0004596), protein N-terminal-methionine acetyltransferase activity (GO:0120518), 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 (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), NatC complex (GO:0031417)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of protein stability	1
translation	1
N-terminal protein amino acid acetylation	1
peptidyl-methionine modification	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein N-acetyltransferase activity	1
protein-N-terminal amino-acid acetyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
acyltransferase activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
N-terminal protein acetyltransferase complex	1

Protein interactions and networks

STRING

674 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAA30	NAA35	Q5VZE5	996
NAA30	NAA20	P61599	904
NAA30	NAA25	Q14CX7	877
NAA30	NAA38	Q9BRA0	842
NAA30	NAA40	Q86UY6	810
NAA30	NAA15	Q9BXJ9	794
NAA30	NAA60	Q9H7X0	760
NAA30	NAA16	Q6N069	645
NAA30	NAA80	Q93015	598
NAA30	HYPK	Q9NX55	520
NAA30	NAA50	Q9GZZ1	519
NAA30	NAA10	P41227	519
NAA30	NAT10	Q9H0A0	517
NAA30	SYS1	Q8N2H4	480
NAA30	NAA11	Q9BSU3	472
NAA30	ARFRP1	Q13795	472

IntAct

20 interactions, top by confidence:

A	B	Type	Score
NAA30	NAA35	psi-mi:“MI:0915”(physical association)	0.740
NAA30	NAA35	psi-mi:“MI:0914”(association)	0.740
NAA30		psi-mi:“MI:0192”(acetylation reaction)	0.440
NAA30	BEND7	psi-mi:“MI:0915”(physical association)	0.400
BTF3	NACAD	psi-mi:“MI:0914”(association)	0.350
NAA38	EIF3H	psi-mi:“MI:0914”(association)	0.350
CD2BP2	OBSL1	psi-mi:“MI:0914”(association)	0.350
MMTAG2	HEXIM1	psi-mi:“MI:0914”(association)	0.350
NAA30	HARS2	psi-mi:“MI:0914”(association)	0.350
EPB41L5	LIN7A	psi-mi:“MI:0914”(association)	0.350
NAA30	ATP1A3	psi-mi:“MI:0914”(association)	0.350
LMX1B	CD33	psi-mi:“MI:0914”(association)	0.350
NAA30	PAPSS1	psi-mi:“MI:0914”(association)	0.350
VASH1	NAA30	psi-mi:“MI:0914”(association)	0.350
NAA30	RPL26	psi-mi:“MI:0403”(colocalization)	0.350
RPL26	NAA30	psi-mi:“MI:0403”(colocalization)	0.350

BioGRID (37): NAA30 (Synthetic Lethality), NAA30 (Affinity Capture-MS), NAA30 (Affinity Capture-MS), NAA30 (Affinity Capture-MS), NAA30 (Proximity Label-MS), NAA30 (Proximity Label-MS), NAA35 (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), NAA30 (Affinity Capture-MS), MAP4K2 (Affinity Capture-MS), NARS2 (Affinity Capture-MS), ISYNA1 (Affinity Capture-MS), RTKN (Affinity Capture-MS), HARS2 (Affinity Capture-MS), NAA30 (Affinity Capture-MS)

ESM2 similar proteins: A6NKL6, A6NNE9, A6P320, D3YYI7, E9Q0B3, F5H4A9, O60346, P0C1G7, P0C7U0, P0DPB3, P39881, P53349, Q0P496, Q13233, Q147X3, Q2TBI2, Q3TZ87, Q49LS4, Q52L14, Q5GH59, Q5GH67, Q5GH76, Q5VV17, Q62925, Q66JB6, Q6NS60, Q80TE3, Q86VE0, Q86YJ5, Q8BGW2, Q8CBH7, Q8R554, Q8TC41, Q8TE49, Q8TF61, Q96EP1, Q96SQ7, Q99MX7, Q99NA2, Q9BXQ6

Diamond homologs: A1R8Y2, A8E5V7, A9WNI5, C0ZP17, C1ATC6, C3PIU4, C6WPR7, D0L3V5, D2S4P5, D6Y4C5, E0CYC6, O05517, O34376, O74311, O80438, P36416, Q03503, Q0IHH1, Q0S740, Q147X3, Q17QK9, Q3MHC1, Q3UX61, Q4V8K3, Q54MP9, Q58925, Q5Z297, Q66KL0, Q6DBY2, Q8CES0, Q95RC0, Q976C3, Q980R9, Q9BSU3, Q9DBU2, Q9FKI4, Q9H7X0, Q9I8W5, Q9NHD5, Q9QXS7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NAA30	“form complex”	NatC	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	38
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
984533	NM_001011713.3(NAA30):c.452C>A (p.Pro151His)	Likely pathogenic

SpliceAI

857 predictions. Top by Δscore:

Variant	Effect	Δscore
14:57390704:GG:G	donor_gain	1.0000
14:57390705:GG:G	donor_gain	1.0000
14:57396750:A:G	acceptor_gain	1.0000
14:57390666:G:GT	donor_gain	0.9900
14:57390701:GCGGG:G	donor_gain	0.9900
14:57390703:GGG:G	donor_gain	0.9900
14:57390704:GGG:G	donor_gain	0.9900
14:57390705:GGTG:G	donor_loss	0.9900
14:57390706:G:GG	donor_gain	0.9900
14:57390706:GTGAG:G	donor_loss	0.9900
14:57390707:T:G	donor_loss	0.9900
14:57390708:G:GG	donor_loss	0.9900
14:57390710:GCC:G	donor_gain	0.9900
14:57393937:G:T	donor_gain	0.9900
14:57394020:G:GT	donor_gain	0.9900
14:57396744:T:G	acceptor_loss	0.9900
14:57396748:TAA:T	acceptor_loss	0.9900
14:57396750:A:AG	acceptor_loss	0.9900
14:57396751:G:GG	acceptor_gain	0.9900
14:57409373:TTGAA:T	acceptor_loss	0.9900
14:57409374:TGAAG:T	acceptor_loss	0.9900
14:57409375:GAAG:G	acceptor_loss	0.9900
14:57409376:AAGG:A	acceptor_loss	0.9900
14:57409377:A:G	acceptor_loss	0.9900
14:57409378:GGTT:G	acceptor_gain	0.9900
14:57409532:G:GT	donor_gain	0.9900
14:57390718:G:GT	donor_gain	0.9800
14:57390951:TTCTA:T	acceptor_loss	0.9800
14:57390952:TCTAG:T	acceptor_loss	0.9800
14:57390953:CTAG:C	acceptor_loss	0.9800

AlphaMissense

2336 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:57391609:T:C	Y218H	1.000
14:57391609:T:G	Y218D	1.000
14:57391628:T:C	M224T	1.000
14:57391628:T:G	M224R	1.000
14:57391637:T:A	I227N	1.000
14:57391646:T:C	L230P	1.000
14:57391649:T:A	I231N	1.000
14:57391661:T:A	L235Q	1.000
14:57391661:T:C	L235P	1.000
14:57391664:C:A	S236Y	1.000
14:57391664:C:T	S236F	1.000
14:57391666:G:A	E237K	1.000
14:57391667:A:C	E237A	1.000
14:57391667:A:G	E237G	1.000
14:57391667:A:T	E237V	1.000
14:57391668:A:C	E237D	1.000
14:57391668:A:T	E237D	1.000
14:57391672:T:A	Y239N	1.000
14:57391672:T:C	Y239H	1.000
14:57391672:T:G	Y239D	1.000
14:57391673:A:G	Y239C	1.000
14:57391675:T:C	S240P	1.000
14:57391676:C:A	S240Y	1.000
14:57391676:C:T	S240F	1.000
14:57391679:T:A	I241N	1.000
14:57391681:T:C	Y242H	1.000
14:57391681:T:G	Y242D	1.000
14:57391687:T:C	Y244H	1.000
14:57391687:T:G	Y244D	1.000
14:57391690:A:G	R245G	1.000

dbSNP variants (sampled 300 via entrez): RS1000122064 (14:57390993 C>G,T), RS1000264761 (14:57390737 G>C), RS1000527844 (14:57407969 T>C), RS1000642645 (14:57393446 A>G), RS1000673135 (14:57410362 G>A), RS1000697587 (14:57395242 G>A), RS1000743073 (14:57397007 A>T), RS1000781926 (14:57403749 A>G), RS1000852385 (14:57414651 A>T), RS1000855496 (14:57389607 T>A), RS1000908031 (14:57401174 A>T), RS1001018061 (14:57398136 A>C), RS1001250727 (14:57391902 A>G), RS1001305332 (14:57402811 T>C), RS1001429384 (14:57390250 C>A)

Disease associations

OMIM: gene MIM:617989 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST011122_3	Walking pace	1.000000e-08
GCST90002379_63	Basophil count	4.000000e-30
GCST90002380_114	Basophil percentage of white cells	8.000000e-27

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005090	basophil count
EFO:0007992	basophil percentage of leukocytes

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Benzo(a)pyrene	decreases methylation, increases expression	3
Valproic Acid	decreases expression	2
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
perfluorooctanoic acid	increases expression	1
coumarin	affects phosphorylation	1
M-VAC protocol	increases response to substance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Caffeine	affects phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Plant Oils	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SZ74	HAP1 NAA30 (-) 1	Cancer cell line	Male
CVCL_XQ83	HAP1 NAA30 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice