SDK2

Summary

SDK2 (sidekick cell adhesion molecule 2, HGNC:19308) is a protein-coding gene on chromosome 17q25.1, encoding Protein sidekick-2 (Q58EX2). Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion.

The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function of this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined.

Source: NCBI Gene 54549 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability (Limited, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 491 total
• MANE Select transcript: NM_001144952

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19308
Approved symbol	SDK2
Name	sidekick cell adhesion molecule 2
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10832, KIAA1514
Ensembl gene	ENSG00000069188
Ensembl biotype	protein_coding
OMIM	607217
Entrez	54549

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000392650, ENST00000410094, ENST00000424778, ENST00000479356, ENST00000585283

RefSeq mRNA: 1 — MANE Select: NM_001144952 NM_001144952

CCDS: CCDS45769

Canonical transcript exons

ENST00000392650 — 45 exons

Exon	Start	End
ENSE00001197707	73437739	73437822
ENSE00001421277	73437964	73438154
ENSE00001512673	73440812	73440923
ENSE00001512676	73447615	73447748
ENSE00001512678	73455906	73456053
ENSE00001512681	73472112	73472218
ENSE00001512684	73507438	73507597
ENSE00001585714	73334384	73338940
ENSE00002489574	73644025	73644445
ENSE00003473191	73415811	73415992
ENSE00003473265	73414644	73414759
ENSE00003477424	73352473	73352637
ENSE00003483912	73399168	73399289
ENSE00003488678	73368407	73368593
ENSE00003501379	73423916	73424092
ENSE00003509186	73393560	73393749
ENSE00003547801	73398320	73398429
ENSE00003552240	73401946	73402141
ENSE00003552793	73401020	73401211
ENSE00003552962	73435450	73435644
ENSE00003557180	73350650	73350790
ENSE00003563638	73383876	73384011
ENSE00003566045	73387836	73388037
ENSE00003567244	73395155	73395392
ENSE00003567839	73350237	73350375
ENSE00003568338	73379177	73379292
ENSE00003589039	73423386	73423522
ENSE00003590771	73361684	73361845
ENSE00003597574	73385847	73385917
ENSE00003601703	73433732	73433848
ENSE00003608586	73398035	73398185
ENSE00003619174	73348599	73348725
ENSE00003623679	73401654	73401752
ENSE00003631763	73430511	73430613
ENSE00003633977	73379448	73379549
ENSE00003634385	73380894	73380950
ENSE00003635436	73358079	73358204
ENSE00003637290	73391440	73391538
ENSE00003640255	73422287	73422434
ENSE00003654102	73394209	73394324
ENSE00003660158	73390287	73390481
ENSE00003669763	73386445	73386548
ENSE00003684803	73431502	73431669
ENSE00003687706	73419166	73419306
ENSE00003690307	73365258	73365395

Expression profiles

Bgee: expression breadth ubiquitous, 219 present calls, max score 95.23.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2148 / max 104.2006, expressed in 511 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167915	1.9021	471
167914	0.1515	83
167912	0.1405	29
167911	0.0206	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	95.23	gold quality
tibia	UBERON:0000979	93.09	gold quality
type B pancreatic cell	CL:0000169	88.00	gold quality
olfactory bulb	UBERON:0002264	87.88	gold quality
tendon of biceps brachii	UBERON:0008188	84.79	gold quality
triceps brachii	UBERON:0001509	84.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.05	gold quality
germinal epithelium of ovary	UBERON:0001304	82.93	silver quality
left ventricle myocardium	UBERON:0006566	81.98	gold quality
vastus lateralis	UBERON:0001379	81.68	gold quality
caput epididymis	UBERON:0004358	81.59	gold quality
myocardium	UBERON:0002349	81.54	gold quality
superficial temporal artery	UBERON:0001614	81.42	silver quality
gluteal muscle	UBERON:0002000	81.39	gold quality
buccal mucosa cell	CL:0002336	81.32	silver quality
cardiac muscle of right atrium	UBERON:0003379	80.58	gold quality
pigmented layer of retina	UBERON:0001782	80.23	gold quality
quadriceps femoris	UBERON:0001377	79.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.71	silver quality
nasal cavity epithelium	UBERON:0005384	79.69	gold quality
entorhinal cortex	UBERON:0002728	78.03	gold quality
mammary duct	UBERON:0001765	77.78	silver quality
testis	UBERON:0000473	77.53	gold quality
left testis	UBERON:0004533	77.36	gold quality
seminal vesicle	UBERON:0000998	77.13	gold quality
epithelial cell of pancreas	CL:0000083	76.92	gold quality
epithelium of mammary gland	UBERON:0003244	76.52	silver quality
cerebellar vermis	UBERON:0004720	76.52	silver quality
biceps brachii	UBERON:0001507	76.42	gold quality
vena cava	UBERON:0004087	76.40	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	6.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sdk2b	ENSDARG00000060452
danio_rerio	sdk2a	ENSDARG00000102161
mus_musculus	Sdk2	ENSMUSG00000041592
rattus_norvegicus	Sdk2	ENSRNOG00000024711

Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), PRTG (ENSG00000166450), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)

Protein

Protein identifiers

Protein sidekick-2 — Q58EX2 (reviewed: Q58EX2)

All UniProt accessions (2): Q58EX2, H7C2P2

UniProt curated annotations — full annotation on UniProt →

Function. Adhesion molecule that promotes lamina-specific synaptic connections in the retina and is specifically required for the formation of neuronal circuits that detect motion. Acts by promoting formation of synapses between two specific retinal cell types: the retinal ganglion cells W3B-RGCs and the excitatory amacrine cells VG3-ACs. Formation of synapses between these two cells plays a key role in detection of motion. Promotes synaptic connectivity via homophilic interactions.

Subunit / interactions. Homodimer; mediates homophilic interactions to promote cell adhesion. Interacts (via PDZ-binding motif) with MAGI1, MAGI2, DLG2, DLG3 and DLG4.

Subcellular location. Cell membrane. Synapse.

Domain organisation. The PDZ-binding motif mediates interaction with PDZ domain-containing proteins MAGI1, MAGI2, DLG2, DLG3 and DLG4 and is required for is required for synaptic localization in photoreceptors.

Similarity. Belongs to the sidekick family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q58EX2-1	1	yes
Q58EX2-2	2
Q58EX2-3	3
Q58EX2-4	4

RefSeq proteins (1): NP_001138424* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR003961	FN3_dom	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

Pfam: PF00041, PF07679, PF13927

UniProt features (83 total): strand 29, domain 19, glycosylation site 7, disulfide bond 5, sequence conflict 5, splice variant 4, region of interest 3, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, short sequence motif 1, transmembrane region 1, sequence variant 1, helix 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1WF5	SOLUTION NMR
1WFN	SOLUTION NMR
1WFO	SOLUTION NMR
1WIS	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q58EX2-F1	73.21	0.08

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (5): 48–91, 237–284, 330–380, 423–475, 517–569

Glycosylation sites (7): 193, 609, 743, 936, 948, 1102, 1670

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-373756	SDK interactions
R-HSA-1500931	Cell-Cell communication
R-HSA-421270	Cell-cell junction organization
R-HSA-446728	Cell junction organization

MSigDB gene sets: 145 (showing top): GOBP_SYNAPSE_ASSEMBLY, GOZGIT_ESR1_TARGETS_DN, GOBP_NEUROGENESIS, GOBP_NEURAL_RETINA_DEVELOPMENT, FOXO1_01, GOBP_CELL_CELL_ADHESION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_CELL_JUNCTION_ORGANIZATION, FREAC3_01, GOBP_CAMERA_TYPE_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, GOBP_RETINA_LAYER_FORMATION, GOBP_PHOTORECEPTOR_CELL_DIFFERENTIATION, TCCAGAG_MIR518C, GOBP_CELL_JUNCTION_ASSEMBLY

GO Biological Process (5): homophilic cell-cell adhesion (GO:0007156), synapse assembly (GO:0007416), retina layer formation (GO:0010842), camera-type eye photoreceptor cell differentiation (GO:0060219), cell adhesion (GO:0007155)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Cell-cell junction organization	1
Cell junction organization	1
Cell-Cell communication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
neural retina development	2
retina morphogenesis in camera-type eye	2
cell-cell adhesion	1
nervous system development	1
cell junction assembly	1
synapse organization	1
anatomical structure formation involved in morphogenesis	1
eye photoreceptor cell differentiation	1
cellular process	1
binding	1
membrane	1
cell periphery	1
cell junction	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1148 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SDK2	DSCAML1	Q8TD84	669
SDK2	TEX51	A0A1B0GUA7	542
SDK2	SEMA5A	Q13591	521
SDK2	CDH9	Q9ULB4	496
SDK2	DOCK1	Q14185	494
SDK2	CDH4	P55283	474
SDK2	SEMA5B	Q9P283	473
SDK2	NTN1	O95631	460
SDK2	ZNF516	Q92618	454
SDK2	GRM6	O15303	437
SDK2	DSCAM	O60469	434
SDK2	SLC35F1	Q5T1Q4	433
SDK2	PLEKHG1	Q9ULL1	419
SDK2	ZNF799	Q96GE5	419
SDK2	APOLD1	Q96LR9	418

IntAct

164 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
TSPAN5	ADAM10	psi-mi:“MI:0914”(association)	0.800
CD9	ADAM10	psi-mi:“MI:0914”(association)	0.750
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PDZK1	SDK2	psi-mi:“MI:0407”(direct interaction)	0.620
SDK2	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.620
VMAC	SDK2	psi-mi:“MI:0915”(physical association)	0.560
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
SDK2	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
RADIL	SDK2	psi-mi:“MI:0407”(direct interaction)	0.440
LNX1	SDK2	psi-mi:“MI:0407”(direct interaction)	0.440
TAX1BP3	SDK2	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	HTRA1	psi-mi:“MI:0407”(direct interaction)	0.440
SDK2	HTRA3	psi-mi:“MI:0407”(direct interaction)	0.440
DLG4	SDK2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (61): SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Biochemical Activity), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS), SDK2 (Affinity Capture-MS)

ESM2 similar proteins: A2A8L5, A4IFW2, A7MBJ4, B0V2N1, F1NWE3, O00533, O42414, O55005, O89026, O94856, O97394, P10586, P11627, P16621, P22063, P23468, P28685, P32004, P70232, P97685, P97686, Q02246, Q05695, Q13332, Q28902, Q2EY14, Q2EY15, Q2VWP7, Q2VWP9, Q3UH53, Q589G5, Q58EX2, Q61330, Q64487, Q64604, Q64605, Q6V4S5, Q7Z5N4, Q810U3, Q810U4

Diamond homologs: A0A140LHF2, P0DP72, P11464, P16573, P31809, P31997, P35329, Q00887, Q15223, Q15746, Q16557, Q58EX2, Q6V4S5, Q96FE5, Q9D1T0, Q9GL76, Q9N008, A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A2A8L5, A2AJ76, A4IFW2, A4IGL7, A4IIW9, A5JUY8, A7MBJ4, A8WGA3, A8WQH2, B0BNK7, B3A0P3, D2HFT7, D3YXG0, D4A1J9, D4ABX8, G5EBF1, G5EG78, H2A0M7, O15146, O35158

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 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
Dopamine Neurotransmitter Release Cycle	5	26.7×	1e-04
Assembly and cell surface presentation of NMDA receptors	9	24.6×	2e-08
Neurexins and neuroligins	11	23.3×	4e-10
Protein-protein interactions at synapses	7	20.0×	7e-06
RHOQ GTPase cycle	5	9.8×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	8	35.0×	4e-08
protein localization to synapse	6	34.6×	4e-06
synaptic vesicle transport	5	31.7×	5e-05
receptor clustering	6	28.2×	1e-05
regulation of postsynaptic membrane neurotransmitter receptor levels	7	26.1×	3e-06
cell-cell adhesion	9	6.9×	8e-04
protein-containing complex assembly	8	6.8×	2e-03
chemical synaptic transmission	10	5.8×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	398
Likely benign	42
Benign	18

Top pathogenic / likely-pathogenic (0)

SpliceAI

7973 predictions. Top by Δscore:

Variant	Effect	Δscore
17:73348594:CTCA:C	donor_loss	1.0000
17:73348597:ACCT:A	donor_loss	1.0000
17:73348598:C:G	donor_loss	1.0000
17:73350234:TAC:T	donor_loss	1.0000
17:73350235:A:T	donor_loss	1.0000
17:73350372:TTCC:T	acceptor_gain	1.0000
17:73350373:TCC:T	acceptor_gain	1.0000
17:73350374:CC:C	acceptor_gain	1.0000
17:73350374:CCC:C	acceptor_gain	1.0000
17:73350375:CC:C	acceptor_gain	1.0000
17:73350376:C:A	acceptor_loss	1.0000
17:73350376:C:CC	acceptor_gain	1.0000
17:73350383:C:CT	acceptor_gain	1.0000
17:73350384:G:T	acceptor_gain	1.0000
17:73350644:A:AC	donor_gain	1.0000
17:73350645:C:CC	donor_gain	1.0000
17:73350645:CTCA:C	donor_gain	1.0000
17:73350646:TCA:T	donor_loss	1.0000
17:73350647:CACC:C	donor_loss	1.0000
17:73350648:A:AC	donor_gain	1.0000
17:73350648:A:T	donor_loss	1.0000
17:73350648:AC:A	donor_gain	1.0000
17:73350649:C:CA	donor_loss	1.0000
17:73350649:C:CC	donor_gain	1.0000
17:73350649:CC:C	donor_gain	1.0000
17:73350649:CCCGA:C	donor_gain	1.0000
17:73350786:CTGGG:C	acceptor_gain	1.0000
17:73350791:C:CC	acceptor_gain	1.0000
17:73352469:GTAC:G	donor_loss	1.0000
17:73352471:A:C	donor_loss	1.0000

AlphaMissense

14117 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:73352519:G:C	N1904K	1.000
17:73352519:G:T	N1904K	1.000
17:73352520:T:A	N1904I	1.000
17:73352532:A:T	V1900D	1.000
17:73352535:C:G	R1899P	1.000
17:73352538:A:G	F1898S	1.000
17:73352624:C:A	W1869C	1.000
17:73352624:C:G	W1869C	1.000
17:73352626:A:G	W1869R	1.000
17:73352626:A:T	W1869R	1.000
17:73358142:A:G	W1844R	1.000
17:73358142:A:T	W1844R	1.000
17:73386503:A:C	N1480K	1.000
17:73386503:A:T	N1480K	1.000
17:73386519:C:G	R1475P	1.000
17:73391476:A:G	W1321R	1.000
17:73391476:A:T	W1321R	1.000
17:73394259:A:G	W1220R	1.000
17:73394259:A:T	W1220R	1.000
17:73398040:A:G	W1117R	1.000
17:73398040:A:T	W1117R	1.000
17:73398164:G:C	N1075K	1.000
17:73398164:G:T	N1075K	1.000
17:73398180:C:G	R1070P	1.000
17:73401690:A:G	W915R	1.000
17:73401690:A:T	W915R	1.000
17:73414694:A:G	W812R	1.000
17:73414694:A:T	W812R	1.000
17:73419219:C:A	W711C	1.000
17:73419219:C:G	W711C	1.000

dbSNP variants (sampled 300 via entrez): RS1000014353 (17:73437448 A>G), RS1000029940 (17:73429852 C>G), RS1000033809 (17:73605965 T>C), RS1000034947 (17:73575424 G>A), RS1000037065 (17:73585875 C>T), RS1000043875 (17:73363822 G>A), RS1000044148 (17:73624438 G>A), RS1000044216 (17:73645017 G>A,C), RS1000044963 (17:73355832 C>G), RS1000072041 (17:73471937 C>T), RS1000075072 (17:73447926 T>C), RS1000081747 (17:73429590 G>A,C,T), RS1000098258 (17:73361411 G>C), RS1000105768 (17:73391890 C>A), RS1000106780 (17:73356290 T>A)

Disease associations

OMIM: gene MIM:607217 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability	Limited	Autosomal recessive

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000320_1	Panic disorder	2.000000e-07
GCST002951_18	Response to zileuton treatment in asthma (FEV1 change interaction)	2.000000e-06
GCST003606_6	Liver fibrosis severity in HIV/hepatitis C co-infection	5.000000e-07
GCST005024_62	Pursuit maintenance gain	9.000000e-06
GCST007138_1	Hashimoto thyroiditis	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005921	FEV change measurement
EFO:0008433	pursuit maintenance gain measurement

MeSH disease descriptors (1)

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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, increases methylation, affects cotreatment	6
methylmercuric chloride	decreases expression, increases expression, affects cotreatment	4
Benzo(a)pyrene	decreases expression, affects methylation	3
sodium arsenite	affects methylation, increases expression	2
Endosulfan	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
FR900359	increases phosphorylation	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
trichostatin A	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
perfluorooctanoic acid	decreases expression, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
azoxystrobin	decreases expression	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, decreases expression, affects cotreatment	1
abrine	decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
bisphenol S	decreases methylation	1
picoxystrobin	decreases expression	1
Sunitinib	increases expression	1
Cisplatin	decreases expression	1
Cosmetics	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	increases expression	1
Flame Retardants	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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
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
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)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders