PRICKLE2

Summary

PRICKLE2 (prickle planar cell polarity protein 2, HGNC:20340) is a protein-coding gene on chromosome 3p14.1, encoding Prickle-like protein 2 (Q7Z3G6). Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with IGSF9B to regulate ANK3/ANKG localization to AIS.

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5.

Source: NCBI Gene 166336 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 10
• Clinical variants (ClinVar): 590 total — 2 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_198859

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20340
Approved symbol	PRICKLE2
Name	prickle planar cell polarity protein 2
Location	3p14.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686D143
Ensembl gene	ENSG00000163637
Ensembl biotype	protein_coding
OMIM	608501
Entrez	166336

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000295902, ENST00000485770, ENST00000498162, ENST00000564377, ENST00000638394, ENST00000638436, ENST00000639113, ENST00000640095, ENST00000640303, ENST00000906078, ENST00000970252

RefSeq mRNA: 2 — MANE Select: NM_198859 NM_001370528, NM_198859

CCDS: CCDS2902

Canonical transcript exons

ENST00000638394 — 8 exons

Exon	Start	End
ENSE00001076839	64153182	64153368
ENSE00001076840	64146830	64147702
ENSE00001076842	64157162	64157365
ENSE00001332407	64159940	64160077
ENSE00001332409	64163016	64163129
ENSE00001349817	64224910	64225466
ENSE00003803509	64198784	64198967
ENSE00003806383	64092236	64099925

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 97.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.0844 / max 180.8309, expressed in 1368 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42858	7.6315	1002
42857	2.1629	840
42859	1.0995	632
42854	0.7522	234
42863	0.7194	316
42856	0.5663	326
42851	0.4160	179
42861	0.4152	229
42849	0.2314	107
42850	0.2174	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	97.38	gold quality
cauda epididymis	UBERON:0004360	92.07	gold quality
colonic epithelium	UBERON:0000397	91.79	gold quality
middle temporal gyrus	UBERON:0002771	91.40	gold quality
entorhinal cortex	UBERON:0002728	90.98	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.91	gold quality
postcentral gyrus	UBERON:0002581	89.83	gold quality
superior frontal gyrus	UBERON:0002661	89.75	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.46	gold quality
cortical plate	UBERON:0005343	89.28	gold quality
parietal lobe	UBERON:0001872	88.73	gold quality
myometrium	UBERON:0001296	87.63	gold quality
smooth muscle tissue	UBERON:0001135	87.33	gold quality
endometrium	UBERON:0001295	87.33	gold quality
seminal vesicle	UBERON:0000998	87.05	gold quality
fallopian tube	UBERON:0003889	87.03	gold quality
uterus	UBERON:0000995	86.90	gold quality
calcaneal tendon	UBERON:0003701	86.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.62	gold quality
lower esophagus	UBERON:0013473	86.58	gold quality
decidua	UBERON:0002450	86.57	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.36	gold quality
mucosa of stomach	UBERON:0001199	86.12	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.88	gold quality
stromal cell of endometrium	CL:0002255	85.76	gold quality
uterine cervix	UBERON:0000002	85.33	gold quality
primary visual cortex	UBERON:0002436	85.26	gold quality
body of uterus	UBERON:0009853	85.24	gold quality
occipital lobe	UBERON:0002021	84.90	gold quality
lateral nuclear group of thalamus	UBERON:0002736	84.89	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	2999.76
E-MTAB-7051	yes	646.96
E-CURD-119	yes	40.93
E-ANND-3	yes	11.72
E-GEOD-98556	no	708.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

310 targeting PRICKLE2, 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-4533	100.00	69.48	2758
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-33A-5P	99.99	68.62	1055

Literature-anchored findings (GeneRIF, showing 4)

• PRICKLE1 and PRICKLE2 mRNAs were expressed together in brain, eye and testis. (PMID:12525887)
• MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2. (PMID:22037766)
• 2 autism-spectrum-disorder patients had distinct, paternally inherited, heterozygous, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) shared by their affected siblings. These variants had deficits in morphological and electrophysiological assays. (PMID:23711981)
• PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. (PMID:34092786)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	prickle2a	ENSDARG00000020982
danio_rerio	prickle2b	ENSDARG00000037593
mus_musculus	Prickle2	ENSMUSG00000030020
rattus_norvegicus	Prickle2	ENSRNOG00000012364
drosophila_melanogaster	pk	FBGN0003090
drosophila_melanogaster	esn	FBGN0263934
caenorhabditis_elegans		WBGENE00022727

Paralogs (1): PRICKLE3 (ENSG00000012211)

Protein

Protein identifiers

Prickle-like protein 2 — Q7Z3G6 (reviewed: Q7Z3G6)

All UniProt accessions (3): A0A1X7SBR1, C9JY03, Q7Z3G6

UniProt curated annotations — full annotation on UniProt →

Function. Is involved in the organization and maintenance of axon initial segment (AIS) architecture, likely cooperating with IGSF9B to regulate ANK3/ANKG localization to AIS. By binding to and regulating ANK3/ANKG, it modulates its ability to bundle microtubules, a crucial mechanism for establishing neuronal polarity and AIS formation. During early embryonic development, has a role in blastocyst formation, likely controlling the redistribution of the microtubule network during embryo compaction and the establishment of apical/basal cell polarity.

Subunit / interactions. Interacts with IGSF9B; the interaction is required for correct IGSF9B and ANK3/ANKG localization in axons. Interacts with ANK3/ANKG; the interaction is necessary for correct microtubule bundling.

Subcellular location. Postsynaptic density. Cell projection. Axon. Dendrite. Nucleus.

Tissue specificity. Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.

Disease relevance. PRICKLE2 mutations have been found in patients with myoclonic epilepsy but involvement of this gene in pathogenesis is under debate since some of the patients also carry POLG mutations.

Similarity. Belongs to the prickle / espinas / testin family.

RefSeq proteins (2): NP_001357457, NP_942559* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain
IPR010442	PET_domain	Domain
IPR033723	PET_prickle	Domain
IPR033725	LIM1_prickle	Domain
IPR033726	LIM2_prickle	Domain
IPR033727	LIM3_prickle	Domain
IPR047120	Pk/Esn/Tes	Family

Pfam: PF00412, PF06297

UniProt features (31 total): modified residue 13, compositionally biased region 4, domain 4, region of interest 4, sequence variant 3, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z3G6-F1	56.41	0.29

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 (14): 92, 319, 321, 322, 534, 536, 539, 543, 546, 607, 642, 731, 841, 841

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 198 (showing top): GCACCTT_MIR18A_MIR18B, TGGTGCT_MIR29A_MIR29B_MIR29C, RRAGTTGT_UNKNOWN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOZGIT_ESR1_TARGETS_DN, GOBP_BLASTOCYST_FORMATION, CHANDRAN_METASTASIS_DN, CAGCTG_AP4_Q5, FOXD3_01, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, CATTTCA_MIR203, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, FREAC3_01, BRN2_01

GO Biological Process (3): blastocyst formation (GO:0001825), Wnt signaling pathway, planar cell polarity pathway (GO:0060071), protein localization to axon (GO:0099612)

GO Molecular Function (2): zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), postsynaptic density (GO:0014069), axon (GO:0030424), dendrite (GO:0030425), nuclear membrane (GO:0031965), axon initial segment (GO:0043194), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
neuron projection	2
blastocyst development	1
anatomical structure formation involved in morphogenesis	1
non-canonical Wnt signaling pathway	1
intracellular protein localization	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
asymmetric synapse	1
postsynaptic specialization	1
dendritic tree	1
nucleus	1
nuclear envelope	1
organelle membrane	1
main axon	1

Protein interactions and networks

STRING

1116 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRICKLE2	VANGL2	Q9ULK5	971
PRICKLE2	VANGL1	Q8TAA9	934
PRICKLE2	DVL1	O14640	923
PRICKLE2	ANKRD6	Q9Y2G4	842
PRICKLE2	CELSR1	Q9NYQ6	757
PRICKLE2	DLG4	P78352	704
PRICKLE2	INVS	Q9Y283	664
PRICKLE2	PTPRU	P78399	663
PRICKLE2	FZD6	O60353	662
PRICKLE2	DVL2	O14641	655
PRICKLE2	CELSR3	Q9NYQ7	638
PRICKLE2	FZD3	Q9NPG1	637
PRICKLE2	CELSR2	Q9HCU4	604
PRICKLE2	DAAM1	Q9Y4D1	580
PRICKLE2	INTU	Q9ULD6	565

IntAct

11 interactions, top by confidence:

A	B	Type	Score
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
EPB41L1	AP3B1	psi-mi:“MI:0914”(association)	0.530
PARP2	PRICKLE2	psi-mi:“MI:0557”(adp ribosylation reaction)	0.440
PRICKLE2	Smurf2	psi-mi:“MI:0915”(physical association)	0.400
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
RIMS1	KIF2A	psi-mi:“MI:0914”(association)	0.350
SYNGAP1	POM121C	psi-mi:“MI:0914”(association)	0.350
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350
ADCYAP1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SLC9A2	MEIOC	psi-mi:“MI:0914”(association)	0.350

BioGRID (24): Tanc2 (Affinity Capture-MS), Tanc1 (Affinity Capture-MS), Usp9x (Affinity Capture-MS), Bcr (Affinity Capture-MS), Mycbp2 (Affinity Capture-MS), Rpl23 (Affinity Capture-MS), Cad (Affinity Capture-MS), Rpl4 (Affinity Capture-MS), Rps26 (Affinity Capture-MS), Tubb4b (Affinity Capture-MS), Tubb5 (Affinity Capture-MS), Tanc2 (Affinity Capture-Western), Usp9x (Affinity Capture-Western), Bcr (Affinity Capture-Western), USP9X (Affinity Capture-Western)

ESM2 similar proteins: A0A1L8H8C0, A0A1L8HFX9, A2CEX1, A2RUV4, A4V8B4, A8XU52, C5DGS4, C5DT56, E7KIY3, E9QDC5, F1QPR4, G5EEK3, H2L045, O60504, P27715, Q02645, Q02831, Q11181, Q32NM7, Q3U5C7, Q571K4, Q5T5U3, Q5U303, Q60JJ0, Q6DFG0, Q6DFV3, Q71H61, Q71M21, Q71QF9, Q7Z3G6, Q7ZXH3, Q80Y24, Q86SQ0, Q8BRG8, Q8K1N2, Q8N5C8, Q8NEY8, Q8VEB2, Q96MT3, Q96SK2

Diamond homologs: A0A1L8F1M4, A0M8R4, A0M8S5, A0M8U6, A1Z6W3, A8WH69, O43294, O43900, P47226, Q00PK1, Q04650, Q07DW1, Q07DX3, Q07DY3, Q07DZ4, Q07E27, Q07E40, Q07E51, Q09YI0, Q09YJ2, Q09YK3, Q09YL5, Q09YN8, Q108U9, Q174I2, Q17QE2, Q28FG2, Q292U2, Q292U5, Q2IBA3, Q2IBC3, Q2IBH0, Q2LAP6, Q2QL92, Q2QLA1, Q2QLB2, Q2QLC3, Q2QLE3, Q2QLF4, Q2QLG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	367
Likely benign	151
Benign	31

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1064439	NM_198859.4(PRICKLE2):c.214C>T (p.Arg72Ter)	Pathogenic
209186	NM_198859.4(PRICKLE2):c.380del (p.Gly127fs)	Pathogenic
1064438	NM_198859.4(PRICKLE2):c.122C>T (p.Pro41Leu)	Likely pathogenic
1064440	NM_198859.4(PRICKLE2):c.680C>G (p.Thr227Arg)	Likely pathogenic
1064441	NM_198859.4(PRICKLE2):c.1286_1287del (p.Ser429fs)	Likely pathogenic

SpliceAI

1913 predictions. Top by Δscore:

Variant	Effect	Δscore
3:64099923:GGCCT:G	acceptor_loss	1.0000
3:64099925:CCT:C	acceptor_loss	1.0000
3:64099927:T:A	acceptor_loss	1.0000
3:64121471:T:C	donor_gain	1.0000
3:64153253:C:A	donor_gain	1.0000
3:64157361:CCGCA:C	acceptor_gain	1.0000
3:64157362:CGCAC:C	acceptor_gain	1.0000
3:64157366:C:CC	acceptor_gain	1.0000
3:64159935:CTTA:C	donor_loss	1.0000
3:64159936:TTA:T	donor_loss	1.0000
3:64159937:TA:T	donor_loss	1.0000
3:64159938:A:AC	donor_gain	1.0000
3:64159939:C:CC	donor_gain	1.0000
3:64159939:C:CG	donor_loss	1.0000
3:64160073:CGAAC:C	acceptor_gain	1.0000
3:64160074:GAAC:G	acceptor_gain	1.0000
3:64160075:AACC:A	acceptor_loss	1.0000
3:64160076:AC:A	acceptor_gain	1.0000
3:64160077:CC:C	acceptor_gain	1.0000
3:64160078:C:CC	acceptor_gain	1.0000
3:64160078:CTGA:C	acceptor_loss	1.0000
3:64160082:A:C	acceptor_gain	1.0000
3:64163010:CCTTA:C	donor_loss	1.0000
3:64163011:CTTAC:C	donor_loss	1.0000
3:64163012:TTA:T	donor_loss	1.0000
3:64163013:TA:T	donor_loss	1.0000
3:64163014:A:AC	donor_gain	1.0000
3:64163014:A:AG	donor_loss	1.0000
3:64163014:AC:A	donor_gain	1.0000
3:64163014:ACCT:A	donor_gain	1.0000

AlphaMissense

5606 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:64147560:G:C	C310W	1.000
3:64147561:C:G	C310S	1.000
3:64147561:C:T	C310Y	1.000
3:64147562:A:G	C310R	1.000
3:64147562:A:T	C310S	1.000
3:64147572:G:C	C306W	1.000
3:64147573:C:A	C306F	1.000
3:64147573:C:G	C306S	1.000
3:64147573:C:T	C306Y	1.000
3:64147574:A:C	C306G	1.000
3:64147574:A:G	C306R	1.000
3:64147574:A:T	C306S	1.000
3:64147575:G:C	F305L	1.000
3:64147575:G:T	F305L	1.000
3:64147577:A:G	F305L	1.000
3:64147579:A:C	I304R	1.000
3:64147579:A:G	I304T	1.000
3:64147579:A:T	I304K	1.000
3:64147597:A:G	L298P	1.000
3:64147599:G:C	F297L	1.000
3:64147599:G:T	F297L	1.000
3:64147600:A:C	F297C	1.000
3:64147600:A:G	F297S	1.000
3:64147601:A:G	F297L	1.000
3:64147609:C:A	G294V	1.000
3:64147609:C:T	G294E	1.000
3:64147610:C:A	G294W	1.000
3:64147610:C:G	G294R	1.000
3:64147610:C:T	G294R	1.000
3:64147615:A:G	L292P	1.000

dbSNP variants (sampled 300 via entrez): RS1000015359 (3:64228773 G>A,C), RS1000023879 (3:64150658 G>A), RS1000025855 (3:64191232 C>T), RS1000092194 (3:64194940 C>A), RS1000092807 (3:64112853 A>G), RS1000099628 (3:64188109 C>G,T), RS1000140372 (3:64267086 T>C), RS1000159955 (3:64233361 G>A), RS1000184930 (3:64160368 C>T), RS1000211240 (3:64114832 C>G), RS1000218064 (3:64094345 T>C), RS1000243710 (3:64172233 A>T), RS1000259414 (3:64237732 C>A,T), RS1000265455 (3:64232209 T>C), RS1000269974 (3:64240131 A>C,T)

Disease associations

OMIM: gene MIM:608501 | disease phenotypes: MIM:254800, MIM:607459, MIM:613832, MIM:117100

GenCC curated gene-disease

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

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	AD

Mondo (7): progressive myoclonus epilepsy (MONDO:0020074), myoclonic epilepsy (MONDO:0100577), autosomal dominant non-syndromic intellectual disability (MONDO:0015802), sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (MONDO:0011835), self-limited epilepsy with centrotemporal spikes (MONDO:0007295), neurodevelopmental disorder (MONDO:0700092), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (6): Progressive myoclonic epilepsy type 5 (Orphanet:402082), Progressive myoclonic epilepsy type 1 (Orphanet:308), Progressive myoclonic epilepsy (Orphanet:98261), Autosomal dominant non-syndromic intellectual disability (Orphanet:178469), Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (Orphanet:70595), Self-limited epilepsy with centrotemporal spikes (Orphanet:1945)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000358_4	Folate pathway vitamin levels	7.000000e-06
GCST002097_31	Coronary artery calcification	5.000000e-07
GCST002875_5	Diisocyanate-induced asthma	1.000000e-06
GCST004025_9	Systemic juvenile idiopathic arthritis	1.000000e-06
GCST005655_10	Seborrheic dermatitis	4.000000e-06
GCST005956_22	Waist-to-hip ratio adjusted for BMI	1.000000e-16
GCST005957_3	Waist-to-hip ratio adjusted for BMI (age <50)	3.000000e-09
GCST005958_4	Waist-to-hip ratio adjusted for BMI (age >50)	2.000000e-15
GCST005962_15	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	6.000000e-21
GCST011997_1	prednisolone sensitivity in B-cell precursor acute lymphoblastic leukaemia	2.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004843	vitamin B measurement
EFO:0004723	coronary artery calcification
EFO:0006995	response to diisocyanate
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020191	Myoclonic Epilepsies, Progressive	C10.228.140.490.375.130.650; C10.228.140.490.493.063.650
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
Particulate Matter	decreases expression, increases abundance, increases expression	4
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	3
bisphenol A	affects cotreatment, increases expression	2
potassium chromate(VI)	affects cotreatment, decreases expression	2
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	2
Air Pollutants	increases expression, decreases expression, increases abundance	2
Benzo(a)pyrene	increases mutagenesis, affects methylation, increases methylation	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Tobacco Smoke Pollution	decreases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
trichostatin A	increases expression	1
2-butenal	decreases expression	1
dimethylselenide	increases oxidation, increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	increases expression, affects cotreatment, decreases expression	1
chromium hexavalent ion	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, increases expression	1

Clinical trials (associated diseases)

220 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,
NCT03490487	PHASE4	UNKNOWN	Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes
NCT04610879	PHASE4	TERMINATED	Changing Agendas on Sleep, Treatment and Learning in Epilepsy
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