RALGAPB

Summary

RALGAPB (Ral GTPase activating protein non-catalytic subunit beta, HGNC:29221) is a protein-coding gene on chromosome 20q11.23, encoding Ral GTPase-activating protein subunit beta (Q86X10). Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.

Enables protein heterodimerization activity. Predicted to be involved in Ral protein signal transduction and activation of GTPase activity. Predicted to act upstream of or within regulation of exocyst localization and regulation of protein localization.

Source: NCBI Gene 57148 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 180 total — 1 pathogenic, 1 likely-pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_020336

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29221
Approved symbol	RALGAPB
Name	Ral GTPase activating protein non-catalytic subunit beta
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp781M2411, RalGAPbeta
Ensembl gene	ENSG00000170471
Ensembl biotype	protein_coding
OMIM	618833
Entrez	57148

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 12 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000262879, ENST00000397040, ENST00000397042, ENST00000438490, ENST00000461147, ENST00000461423, ENST00000490114, ENST00000495949, ENST00000632792, ENST00000882544, ENST00000882545, ENST00000882546, ENST00000938985, ENST00000938986, ENST00000938987, ENST00000949347

RefSeq mRNA: 3 — MANE Select: NM_020336 NM_001282917, NM_001282918, NM_020336

CCDS: CCDS13305, CCDS63272

Canonical transcript exons

ENST00000262879 — 30 exons

Exon	Start	End
ENSE00000661962	38551071	38551223
ENSE00000844649	38548689	38548795
ENSE00000844651	38553867	38554076
ENSE00000844652	38558295	38558453
ENSE00000844653	38562532	38562697
ENSE00000844655	38567096	38567232
ENSE00000844656	38569888	38569996
ENSE00001104993	38509077	38509208
ENSE00001105020	38546243	38546430
ENSE00001402727	38574774	38578858
ENSE00001417187	38565359	38565478
ENSE00003470173	38570769	38570847
ENSE00003473195	38517784	38518000
ENSE00003509566	38532730	38532859
ENSE00003514138	38499447	38499633
ENSE00003518700	38541041	38541192
ENSE00003522939	38535074	38535207
ENSE00003533753	38531167	38531231
ENSE00003536786	38539776	38539958
ENSE00003546615	38524778	38524945
ENSE00003558480	38574150	38574298
ENSE00003578464	38497353	38497516
ENSE00003589370	38492930	38493132
ENSE00003595469	38525895	38526042
ENSE00003603423	38521497	38521698
ENSE00003629914	38488403	38488618
ENSE00003641691	38517506	38517654
ENSE00003647415	38516192	38516370
ENSE00003663718	38525404	38525518
ENSE00003842073	38472843	38473069

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 93.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.7806 / max 371.8702, expressed in 1822 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184573	30.8947	1822
184574	1.8858	1131

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	93.66	gold quality
sperm	CL:0000019	92.02	gold quality
male germ cell	CL:0000015	90.00	gold quality
endothelial cell	CL:0000115	89.99	gold quality
secondary oocyte	CL:0000655	89.83	gold quality
middle temporal gyrus	UBERON:0002771	89.30	gold quality
cortical plate	UBERON:0005343	88.86	gold quality
seminal vesicle	UBERON:0000998	88.76	gold quality
lower esophagus mucosa	UBERON:0035834	88.35	gold quality
upper leg skin	UBERON:0004262	88.25	gold quality
Brodmann (1909) area 23	UBERON:0013554	87.99	gold quality
visceral pleura	UBERON:0002401	87.96	gold quality
stromal cell of endometrium	CL:0002255	87.92	gold quality
corpus epididymis	UBERON:0004359	87.92	gold quality
choroid plexus epithelium	UBERON:0003911	87.89	gold quality
Brodmann (1909) area 46	UBERON:0006483	87.89	gold quality
esophagus squamous epithelium	UBERON:0006920	87.88	gold quality
skin of abdomen	UBERON:0001416	87.83	gold quality
skin of leg	UBERON:0001511	87.77	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.70	gold quality
rectum	UBERON:0001052	87.68	gold quality
cerebellar hemisphere	UBERON:0002245	87.54	gold quality
mucosa of urinary bladder	UBERON:0001259	87.53	gold quality
skin of hip	UBERON:0001554	87.49	gold quality
cerebellar cortex	UBERON:0002129	87.45	gold quality
tonsil	UBERON:0002372	87.44	gold quality
pancreatic ductal cell	CL:0002079	87.39	gold quality
islet of Langerhans	UBERON:0000006	87.38	gold quality
colonic epithelium	UBERON:0000397	87.37	gold quality
endometrium	UBERON:0001295	87.34	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	348.76
E-ENAD-17	no	758.41
E-ANND-3	no	5.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

199 targeting RALGAPB, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548A-5P	99.94	71.27	3482

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 2)

• Deregulation of RalGAPbeta might cause genomic instability, leading to human carcinogenesis. (PMID:24814574)
• Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma. (PMID:34009715)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ralgapb	ENSDARG00000088899
mus_musculus	Ralgapb	ENSMUSG00000027652
rattus_norvegicus	Ralgapb	ENSRNOG00000014836
drosophila_melanogaster	CG34408	FBGN0085437
caenorhabditis_elegans		WBGENE00008430

Protein

Protein identifiers

Ral GTPase-activating protein subunit beta — Q86X10 (reviewed: Q86X10)

Alternative names: p170

All UniProt accessions (3): Q86X10, A0A0J9YW54, A2A2F0

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.

Subunit / interactions. Component of the heterodimeric RalGAP1 complex with RALGAPA1 and of the heterodimeric RalGAP2 complex with RALGAPA2. Heterodimerization is required for activity.

Tissue specificity. Highly expressed in brain, mostly in amygdala.

Miscellaneous. May be due to a competing acceptor splice site. May be due to a competing acceptor splice site. Splicing acceptor site is not canonical.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86X10-1	1	yes
Q86X10-2	2
Q86X10-3	3
Q86X10-4	4

RefSeq proteins (3): NP_001269846, NP_001269847, NP_065069* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000331	Rap/Ran_GAP_dom	Domain
IPR035974	Rap/Ran-GAP_sf	Homologous_superfamily
IPR039930	RALGAPB	Family
IPR046859	RGPA/RALGAPB_N	Domain

Pfam: PF20412

UniProt features (22 total): modified residue 7, splice variant 4, compositionally biased region 4, region of interest 3, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9QWP	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86X10-F1	75.28	0.39

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 (7): 363, 379, 421, 720, 734, 1285, 359

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane

MSigDB gene sets: 168 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGCGCANK_UNKNOWN, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, MODULE_418, GOBP_ACTIVATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, REACTOME_MEMBRANE_TRAFFICKING, GTGCCTT_MIR506, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, TCCAGAG_MIR518C

GO Biological Process (3): Ral protein signal transduction (GO:0032484), regulation of small GTPase mediated signal transduction (GO:0051056), activation of GTPase activity (GO:0090630)

GO Molecular Function (3): GTPase activator activity (GO:0005096), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
small GTPase-mediated signal transduction	2
regulation of intracellular signal transduction	1
positive regulation of GTPase activity	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
protein dimerization activity	1
binding	1

Protein interactions and networks

STRING

1462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RALGAPB	RALGAPA1	Q6GYQ0	717
RALGAPB	RALA	P11233	579
RALGAPB	SLC25A13	Q9UJS0	547
RALGAPB	RGL3	Q3MIN7	515
RALGAPB	RALGPS1	Q5JS13	508
RALGAPB	ZNF292	O60281	504
RALGAPB	DHX40	Q8IX18	488
RALGAPB	RALGAPA2	Q2PPJ7	483
RALGAPB	RALB	P11234	480
RALGAPB	WDFY3	Q8IZQ1	476
RALGAPB	ADIG	Q0VDE8	473
RALGAPB	ZMAT2	Q96NC0	470
RALGAPB	NAA20	P61599	464
RALGAPB	ARHGAP33	O14559	462
RALGAPB	RGL2	O15211	461

IntAct

51 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
RALGAPB	GOPC	psi-mi:“MI:0915”(physical association)	0.560
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
GFOD1	PER1	psi-mi:“MI:0914”(association)	0.530
GFOD1	RALGAPA2	psi-mi:“MI:0914”(association)	0.530
NKIRAS2	RALGAPA2	psi-mi:“MI:0914”(association)	0.530
RALGAPB	SRC	psi-mi:“MI:0915”(physical association)	0.400
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
rep	TBKBP1	psi-mi:“MI:0914”(association)	0.350
CAMK2A	OGT	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
LINC01587	UBA6	psi-mi:“MI:0914”(association)	0.350
TMEM74	KLRG2	psi-mi:“MI:0914”(association)	0.350
BTRC	ACOT7	psi-mi:“MI:0914”(association)	0.350
MFAP5	MANBA	psi-mi:“MI:0914”(association)	0.350
SERPINB2	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
AP2B1	SYNJ1	psi-mi:“MI:0914”(association)	0.350
SGIP1	AP2A2	psi-mi:“MI:0914”(association)	0.350
IRGM	HOXD13	psi-mi:“MI:0914”(association)	0.350
PLEKHG7	GPD2	psi-mi:“MI:0914”(association)	0.350
NKIRAS2	RAP1GDS1	psi-mi:“MI:0914”(association)	0.350
DND1	ATXN3	psi-mi:“MI:0914”(association)	0.350
DPH7	CCT2	psi-mi:“MI:0914”(association)	0.350
PARP3	DMWD	psi-mi:“MI:0914”(association)	0.350
DLG3	DLG1	psi-mi:“MI:0914”(association)	0.350
SGIP1	SPAG6	psi-mi:“MI:0914”(association)	0.350

BioGRID (92): RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Proximity Label-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-MS), RALGAPB (Affinity Capture-RNA), RALGAPB (Affinity Capture-MS), RALGAPB (Proximity Label-MS)

ESM2 similar proteins: A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, P70398, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q148V7, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q5R660, Q5R8N4, Q5XI83, Q68FW3, Q7Z3J2, Q86X10, Q8BWQ6

Diamond homologs: P86410, Q86X10, Q8BQZ4

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RALGAPB	“form complex”	RalGAP1	binding
RALGAPB	“form complex”	RalGAP2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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	70.5×	1e-06
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	62.2×	1e-06
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	62.2×	1e-06
Activation of BH3-only proteins	5	46.0×	3e-06
RHO GTPases activate PKNs	6	35.2×	1e-06
Intrinsic Pathway for Apoptosis	5	27.1×	5e-05
Translocation of SLC2A4 (GLUT4) to the plasma membrane	7	20.0×	3e-06
Transcriptional and post-translational regulation of MITF-M expression and activity	5	16.5×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of canonical NF-kappaB signal transduction	5	13.7×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	131
Likely benign	3
Benign	12

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1708254	NM_020336.4(RALGAPB):c.4142+1G>A	Pathogenic
370037	NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)	Likely pathogenic

SpliceAI

5744 predictions. Top by Δscore:

Variant	Effect	Δscore
20:38473065:CTCAG:C	donor_loss	1.0000
20:38473066:TCAG:T	donor_loss	1.0000
20:38473067:CAG:C	donor_loss	1.0000
20:38473068:AG:A	donor_loss	1.0000
20:38473069:GGTA:G	donor_loss	1.0000
20:38473070:G:GA	donor_loss	1.0000
20:38473071:T:G	donor_loss	1.0000
20:38488399:TCA:T	acceptor_loss	1.0000
20:38488401:A:AG	acceptor_gain	1.0000
20:38488401:A:T	acceptor_loss	1.0000
20:38488401:AG:A	acceptor_gain	1.0000
20:38488401:AGGT:A	acceptor_gain	1.0000
20:38488402:G:A	acceptor_loss	1.0000
20:38488402:G:GA	acceptor_gain	1.0000
20:38488402:GG:G	acceptor_gain	1.0000
20:38488402:GGT:G	acceptor_gain	1.0000
20:38488402:GGTG:G	acceptor_gain	1.0000
20:38488402:GGTGC:G	acceptor_gain	1.0000
20:38488562:GTGT:G	donor_gain	1.0000
20:38488563:TGTT:T	donor_gain	1.0000
20:38488564:GTTA:G	donor_gain	1.0000
20:38488616:GAA:G	donor_gain	1.0000
20:38488618:AG:A	donor_loss	1.0000
20:38488619:G:GG	donor_gain	1.0000
20:38488619:GTAAG:G	donor_loss	1.0000
20:38488620:TAAG:T	donor_loss	1.0000
20:38492924:GTCTA:G	acceptor_loss	1.0000
20:38492925:TCTA:T	acceptor_loss	1.0000
20:38492927:TAG:T	acceptor_loss	1.0000
20:38492928:A:AG	acceptor_gain	1.0000

AlphaMissense

9829 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:38492936:T:A	W65R	1.000
20:38492936:T:C	W65R	1.000
20:38492938:G:C	W65C	1.000
20:38492938:G:T	W65C	1.000
20:38492961:G:A	G73E	1.000
20:38492964:T:C	L74P	1.000
20:38493020:T:A	W93R	1.000
20:38493020:T:C	W93R	1.000
20:38493111:T:C	L123P	1.000
20:38499500:T:A	W203R	1.000
20:38499500:T:C	W203R	1.000
20:38499542:T:A	W217R	1.000
20:38499542:T:C	W217R	1.000
20:38521613:G:A	G512R	1.000
20:38521613:G:C	G512R	1.000
20:38521614:G:A	G512E	1.000
20:38521619:G:C	A514P	1.000
20:38521626:C:A	A516D	1.000
20:38524924:T:C	L589P	1.000
20:38525448:G:C	R611P	1.000
20:38535122:T:C	L765P	1.000
20:38535148:T:A	W774R	1.000
20:38535148:T:C	W774R	1.000
20:38539882:T:C	L829P	1.000
20:38539923:T:A	W843R	1.000
20:38539923:T:C	W843R	1.000
20:38541075:T:C	L866P	1.000
20:38541077:G:C	G867R	1.000
20:38541078:G:A	G867D	1.000
20:38541087:G:A	G870E	1.000

dbSNP variants (sampled 300 via entrez): RS1000014901 (20:38500173 C>A), RS1000043174 (20:38544278 G>T), RS1000099956 (20:38544554 G>A), RS1000101179 (20:38490604 T>A,G), RS1000115260 (20:38489692 G>A), RS1000127711 (20:38568318 T>C), RS1000133406 (20:38533461 A>G), RS1000146833 (20:38578069 TAAAAA>T,TA,TAAAA,TAAAAAA,TAAAAAAAA), RS1000148840 (20:38578821 C>T), RS1000167559 (20:38481693 C>T), RS1000188451 (20:38489340 G>A), RS1000297187 (20:38496774 A>G), RS1000305333 (20:38475290 G>A), RS1000323822 (20:38519701 A>G), RS1000336088 (20:38539617 A>T)

Disease associations

OMIM: gene MIM:618833 | disease phenotypes: MIM:182230

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant
complex neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (4): intellectual disability (MONDO:0001071), septooptic dysplasia (MONDO:0008428), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (2): Septo-optic dysplasia spectrum (Orphanet:3157), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

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
D025962	Septo-Optic Dysplasia	C10.292.562.700.375.875; C10.500.034.937; C10.500.760.500; C11.590.436.400.875; C16.131.666.034.937; C16.131.666.763.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Caffeine	affects phosphorylation, decreases expression	2
Cisplatin	decreases expression, increases expression	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
arsenite	affects binding, decreases reaction	1
tetrabromobisphenol A	decreases expression	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Atrazine	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methotrexate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1

Clinical trials (associated diseases)

396 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
NCT00140413	PHASE4	COMPLETED	Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia
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
NCT06760546	PHASE3	RECRUITING	A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
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)
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
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