JAKMIP1

Summary

JAKMIP1 (janus kinase and microtubule interacting protein 1, HGNC:26460) is a protein-coding gene on chromosome 4p16.1, encoding Janus kinase and microtubule-interacting protein 1 (Q96N16). Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor.

Enables GABA receptor binding activity and RNA binding activity. Involved in cognition. Located in membrane. Part of ribonucleoprotein complex.

Source: NCBI Gene 152789 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 105 total — 1 pathogenic
• MANE Select transcript: NM_001099433

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26460
Approved symbol	JAKMIP1
Name	janus kinase and microtubule interacting protein 1
Location	4p16.1
Locus type	gene with protein product
Status	Approved
Aliases	MARLIN1, JAMIP1, Gababrbp, FLJ31564
Ensembl gene	ENSG00000152969
Ensembl biotype	protein_coding
OMIM	611195
Entrez	152789

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 12 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000282924, ENST00000409021, ENST00000409371, ENST00000409831, ENST00000410077, ENST00000457227, ENST00000473053, ENST00000637373, ENST00000700566, ENST00000700567, ENST00000700568, ENST00000700569, ENST00000700570, ENST00000700571, ENST00000700572, ENST00000700573, ENST00000700574, ENST00000700575, ENST00000700576, ENST00000700577

RefSeq mRNA: 4 — MANE Select: NM_001099433 NM_001099433, NM_001306133, NM_001306134, NM_144720

CCDS: CCDS3385, CCDS47005, CCDS77897

Canonical transcript exons

ENST00000409021 — 21 exons

Exon	Start	End
ENSE00001080261	6060424	6060507
ENSE00001080262	6062312	6062440
ENSE00001080264	6056697	6056759
ENSE00001577294	6042159	6042227
ENSE00001578825	6050578	6050679
ENSE00001582181	6049819	6049872
ENSE00001586359	6054050	6054148
ENSE00001588119	6040639	6040716
ENSE00001588933	6035904	6036107
ENSE00001589348	6029716	6029781
ENSE00001725902	6048857	6048922
ENSE00001788612	6105473	6105967
ENSE00002291794	6112722	6112997
ENSE00003532799	6064880	6065008
ENSE00003551910	6084846	6084965
ENSE00003577773	6078939	6078998
ENSE00003626353	6081609	6081755
ENSE00003656343	6080172	6080312
ENSE00003661465	6085420	6085629
ENSE00003890503	6026199	6026278
ENSE00003894483	6200253	6200549

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 94.84.

FANTOM5 (CAGE): breadth broad, TPM avg 4.0134 / max 158.6347, expressed in 375 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51233	4.0134	375
51234	0.4597	171
51232	0.0561	31

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
caudate nucleus	UBERON:0001873	94.84	gold quality
nucleus accumbens	UBERON:0001882	94.80	gold quality
putamen	UBERON:0001874	94.75	gold quality
middle temporal gyrus	UBERON:0002771	94.55	gold quality
prefrontal cortex	UBERON:0000451	93.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.54	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.54	gold quality
superior frontal gyrus	UBERON:0002661	93.10	gold quality
frontal cortex	UBERON:0001870	92.84	gold quality
frontal lobe	UBERON:0016525	92.84	gold quality
entorhinal cortex	UBERON:0002728	92.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	92.68	gold quality
postcentral gyrus	UBERON:0002581	92.57	gold quality
telencephalon	UBERON:0001893	92.52	gold quality
neocortex	UBERON:0001950	92.30	gold quality
anterior cingulate cortex	UBERON:0009835	92.30	gold quality
primary visual cortex	UBERON:0002436	92.29	gold quality
cerebral cortex	UBERON:0000956	92.25	gold quality
parietal lobe	UBERON:0001872	91.93	gold quality
Brodmann (1909) area 46	UBERON:0006483	91.92	gold quality
right frontal lobe	UBERON:0002810	91.47	gold quality
Ammon’s horn	UBERON:0001954	91.29	gold quality
temporal lobe	UBERON:0001871	91.20	gold quality
forebrain	UBERON:0001890	91.12	gold quality
hypothalamus	UBERON:0001898	91.07	gold quality
endothelial cell	CL:0000115	90.74	gold quality
amygdala	UBERON:0001876	90.73	gold quality
occipital lobe	UBERON:0002021	90.49	gold quality
cortical plate	UBERON:0005343	90.32	gold quality
brain	UBERON:0000955	88.68	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-5061	yes	6.18
E-ANND-3	no	2.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting JAKMIP1, 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-548AW	99.99	72.57	3559
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-34B-5P	99.78	67.56	1175

Literature-anchored findings (GeneRIF, showing 5)

• Marlin-1 functions to regulate the cellular levels of GABA(B) R2 subunits, which may have significant effects on the production of functional GABA(B) receptor heterodimers (PMID:14718537)
• Marlin1 has a role in cell polarization, segregation of signaling complexes, and vesicle traffic, some of which may involve Jak tyrosine kinases (PMID:15277531)
• We have identified four new transcripts of 2975 bp, 1743 bp, 2189 bp and 2420 bp respectively, named Jakmip1B, Jakmip1C, Jakmip1D and Jakmip1E (PMID:17761393)
• Jakmip1 is a novel effector memory gene that restrains T cell-mediated cytotoxicity. (PMID:18941173)
• JAKMIP1 associates with and possibly contributes to the Wnt/beta-catenin pathway activity through its influence on downstream Wnt target proteins, including beta-catenin. (PMID:23481296)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	jakmip1	ENSDARG00000076090
mus_musculus	Jakmip1	ENSMUSG00000063646
rattus_norvegicus	Jakmip1	ENSRNOG00000004998

Paralogs (2): JAKMIP2 (ENSG00000176049), JAKMIP3 (ENSG00000188385)

Protein

Protein identifiers

Janus kinase and microtubule-interacting protein 1 — Q96N16 (reviewed: Q96N16)

Alternative names: GABA-B receptor-binding protein, Multiple alpha-helices and RNA-linker protein 1

All UniProt accessions (8): Q96N16, A0A1B0GUE0, A0A8V8TPV4, A0A8V8TQE7, A0A8V8TR09, A0A8V8TR11, A0A8V8TRB8, F2Z2K5

UniProt curated annotations — full annotation on UniProt →

Function. Associates with microtubules and may play a role in the microtubule-dependent transport of the GABA-B receptor. May play a role in JAK1 signaling and regulate microtubule cytoskeleton rearrangements.

Subunit / interactions. Homodimer. Forms a complex with GABBR1 and KIF5B/kinesin-1. Interacts with JAK1 and TYK2.

Subcellular location. Cytoplasm. Cytoskeleton. Membrane.

Tissue specificity. Predominantly expressed in neural tissues and lymphoid cells (at protein level). Isoform 2, isoform 3 and isoform 4 are specifically expressed in brain and retina. Isoform 1 and isoform 5 are also detected in liver, lung and skeletal muscle. Also detected in testis and to a lower extent spleen and intestine.

Miscellaneous. Dubious isoform produced through aberrant splice sites. Dubious isoform produced through aberrant splice sites.

Similarity. Belongs to the JAKMIP family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q96N16-1	1, Jakmip1A	yes
Q96N16-2	2, Jakmip1B
Q96N16-3	3, Jakmip1C
Q96N16-4	4, Jakmip1D
Q96N16-5	5, Jakmip1E
Q96N16-6	6
Q96N16-7	7

RefSeq proteins (4): NP_001092903, NP_001293062, NP_001293063, NP_653321 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024836	JAKMIP	Family
IPR031994	JAKMIP_C	Domain

Pfam: PF16034

UniProt features (23 total): splice variant 9, region of interest 4, coiled-coil region 3, modified residue 2, sequence variant 2, chain 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96N16-F1	81.59	0.59

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 (2): 470, 382

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): GOBP_COGNITION, TGCGCANK_UNKNOWN, TGCACTT_MIR519C_MIR519B_MIR519A, AREB6_03, MODULE_379, chr4p16, MODULE_242, GOMF_SIGNALING_RECEPTOR_BINDING, TGCCTTA_MIR124A, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, TTTGCAC_MIR19A_MIR19B, TGGAAA_NFAT_Q4_01, LEIN_NEURON_MARKERS, MODULE_104, GOCC_RIBONUCLEOPROTEIN_COMPLEX

GO Biological Process (2): protein transport (GO:0015031), cognition (GO:0050890)

GO Molecular Function (5): RNA binding (GO:0003723), microtubule binding (GO:0008017), kinase binding (GO:0019900), GABA receptor binding (GO:0050811), protein binding (GO:0005515)

GO Cellular Component (5): microtubule (GO:0005874), membrane (GO:0016020), ribonucleoprotein complex (GO:1990904), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
nervous system process	1
nucleic acid binding	1
tubulin binding	1
enzyme binding	1
signaling receptor binding	1
binding	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JAKMIP1	TYK2	P29597	794
JAKMIP1	GABBR2	O75899	744
JAKMIP1	JAK1	P23458	669
JAKMIP1	GPR155	Q7Z3F1	521
JAKMIP1	PTK2	Q05397	468
JAKMIP1	RDX	P35241	410
JAKMIP1	EZR	P15311	405
JAKMIP1	MSN	P26038	388
JAKMIP1	SPATA45	Q537H7	365
JAKMIP1	CYFIP1	Q7L576	365
JAKMIP1	OR6K3	Q8NGY3	363
JAKMIP1	SMIM43	Q4W5P6	348
JAKMIP1	SERINC2	Q96SA4	319
JAKMIP1	NT5C1B	Q96P26	318
JAKMIP1	POM121L2	Q96KW2	296

IntAct

87 interactions, top by confidence:

A	B	Type	Score
HTT	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.670
JAKMIP1	rep	psi-mi:“MI:0915”(physical association)	0.660
JAKMIP1	ZNHIT2	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP1	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP1	MRPL11	psi-mi:“MI:0915”(physical association)	0.560
DDX6	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
BLK	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
IL16	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
USP2	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP1	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
YES1	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
JAKMIP1	CBX8	psi-mi:“MI:0915”(physical association)	0.560
ARK2N	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
MCRS1	JAKMIP1	psi-mi:“MI:0915”(physical association)	0.560
KSR2	POLR3A	psi-mi:“MI:0914”(association)	0.530
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.530

BioGRID (44): JAKMIP1 (Affinity Capture-MS), JAKMIP1 (Affinity Capture-Western), JAKMIP1 (Reconstituted Complex), JAKMIP1 (Affinity Capture-MS), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), JAKMIP1 (Two-hybrid), SCNM1 (Two-hybrid), IL16 (Two-hybrid), ZNHIT2 (Two-hybrid), MRPL11 (Two-hybrid)

ESM2 similar proteins: A0A287B8J2, A6QR54, A8IQT2, A8WUP2, C5E2E7, C9ZN16, G5ECG0, O08788, O16844, O48791, O55156, P13496, P28023, P35458, P45970, P54623, Q01397, Q14203, Q17695, Q23529, Q292S8, Q2KN93, Q2KN94, Q2KN95, Q2KN96, Q2KN97, Q2KN98, Q2KN99, Q2KNA0, Q2KNA1, Q3SWS9, Q585H6, Q5B993, Q5DTN8, Q5M775, Q5SXY1, Q5VZ66, Q69YQ0, Q6PCJ1, Q75EN7

Diamond homologs: A6QR54, Q3SWS9, Q5DTN8, Q5VZ66, Q8BVL9, Q96AA8, Q96N16

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
JAKMIP1	“up-regulates quantity by stabilization”	TUBB	binding
KIF5B	“up-regulates activity”	JAKMIP1	relocalization
JAKMIP1	“up-regulates quantity”	GABBR1

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 55 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	5	90.6×	2e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	80.0×	3e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	80.0×	3e-07
Activation of BH3-only proteins	5	59.1×	1e-06
RHO GTPases activate PKNs	5	37.8×	7e-06
Intrinsic Pathway for Apoptosis	5	34.9×	8e-06
Translocation of SLC2A4 (GLUT4) to the plasma membrane	8	29.4×	8e-08
Apoptosis	6	24.0×	6e-06

GO biological processes:

GO term	Partners	Fold	FDR
microtubule cytoskeleton organization	7	16.6×	9e-05
intracellular protein localization	6	12.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	59
Likely benign	11
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
254206	NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His)	Pathogenic

SpliceAI

3015 predictions. Top by Δscore:

Variant	Effect	Δscore
4:6060419:CTCA:C	donor_loss	1.0000
4:6060420:TCAC:T	donor_loss	1.0000
4:6060421:CACC:C	donor_loss	1.0000
4:6060423:C:T	donor_loss	1.0000
4:6060503:CGAGT:C	acceptor_gain	1.0000
4:6060504:GAGT:G	acceptor_gain	1.0000
4:6060506:GT:G	acceptor_gain	1.0000
4:6060506:GTC:G	acceptor_loss	1.0000
4:6060507:TCTGG:T	acceptor_loss	1.0000
4:6060508:C:CC	acceptor_gain	1.0000
4:6060508:C:T	acceptor_loss	1.0000
4:6062310:AC:A	donor_gain	1.0000
4:6062311:CC:C	donor_gain	1.0000
4:6062439:GC:G	acceptor_gain	1.0000
4:6062440:CC:C	acceptor_gain	1.0000
4:6062441:C:CC	acceptor_gain	1.0000
4:6062444:CACA:C	acceptor_gain	1.0000
4:6062446:C:CT	acceptor_gain	1.0000
4:6062447:A:AC	acceptor_gain	1.0000
4:6062447:A:C	acceptor_gain	1.0000
4:6062450:A:AC	acceptor_gain	1.0000
4:6062450:A:C	acceptor_gain	1.0000
4:6064874:GCTT:G	donor_loss	1.0000
4:6064875:CTTA:C	donor_loss	1.0000
4:6064876:TTA:T	donor_loss	1.0000
4:6064877:TACA:T	donor_loss	1.0000
4:6064878:A:AC	donor_gain	1.0000
4:6064878:ACA:A	donor_loss	1.0000
4:6064879:C:CC	donor_gain	1.0000
4:6064879:C:CG	donor_loss	1.0000

AlphaMissense

5450 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:6054068:G:C	F596L	1.000
4:6054068:G:T	F596L	1.000
4:6054069:A:G	F596S	1.000
4:6054070:A:G	F596L	1.000
4:6054078:A:G	L593P	1.000
4:6054054:A:G	L601P	0.999
4:6054060:A:G	L599P	0.999
4:6054069:A:C	F596C	0.999
4:6054070:A:C	F596V	0.999
4:6062358:A:G	L505P	0.999
4:6062379:A:G	L498P	0.999
4:6062400:A:G	L491P	0.999
4:6084889:A:G	L304P	0.999
4:6084910:A:G	L297P	0.999
4:6054065:T:A	R597S	0.998
4:6054065:T:G	R597S	0.998
4:6054066:C:A	R597I	0.998
4:6054066:C:G	R597T	0.998
4:6054070:A:T	F596I	0.998
4:6054087:T:G	Q590P	0.998
4:6062361:A:G	L504P	0.998
4:6062373:C:G	R500P	0.998
4:6062389:A:C	Y495D	0.998
4:6084847:A:G	L318P	0.998
4:6054058:C:T	E600K	0.997
4:6062365:C:G	A503P	0.997
4:6062391:T:A	E494V	0.997
4:6105474:A:G	L208P	0.997
4:6105549:A:G	L183P	0.997
4:6054056:T:A	E600D	0.996

dbSNP variants (sampled 300 via entrez): RS1000000893 (4:6038600 C>A), RS10000296 (4:6106038 T>G), RS1000034381 (4:6089703 C>T), RS1000034717 (4:6124920 T>C), RS1000043551 (4:6055636 T>C), RS1000044570 (4:6108912 G>A,T), RS1000063394 (4:6140427 A>C), RS1000085247 (4:6124598 C>T), RS1000112854 (4:6085083 C>A,T), RS1000115562 (4:6032148 T>C), RS1000133038 (4:6197509 A>G), RS10001432 (4:6086146 C>T), RS1000153319 (4:6100244 C>A,T), RS1000184667 (4:6132946 G>C), RS1000185313 (4:6084794 G>A,C)

Disease associations

OMIM: gene MIM:611195 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Moderate	Autosomal dominant

Mondo (2): intellectual disability (MONDO:0001071), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001520_13	Response to angiotensin II receptor blocker therapy	2.000000e-06
GCST002951_5	Response to zileuton treatment in asthma (FEV1 change interaction)	5.000000e-07
GCST006281_5	Coronary artery disease in type 1 diabetes	5.000000e-06
GCST011624_7	Tau burden	4.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement
EFO:0004760	t-tau measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
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

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
ethyl-p-hydroxybenzoate	decreases expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
NSC 689534	affects binding, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Aldehydes	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Carbamazepine	affects expression	1
Copper	affects binding, decreases expression	1
Fonofos	increases methylation	1
Methapyrilene	increases methylation	1
Parathion	increases methylation	1

Clinical trials (associated diseases)

390 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,
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
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
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
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
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
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
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
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