SOX12

Summary

SOX12 (SRY-box transcription factor 12, HGNC:11198) is a protein-coding gene on chromosome 20p13, encoding Transcription factor SOX-12 (O15370). Transcription factor that binds to DNA at the consensus sequence 5’-ACCAAAG-3'.

Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types.

Source: NCBI Gene 6666 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 14 total — 1 pathogenic
• MANE Select transcript: NM_006943

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11198
Approved symbol	SOX12
Name	SRY-box transcription factor 12
Location	20p13
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000177732
Ensembl biotype	protein_coding
OMIM	601947
Entrez	6666

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000342665

RefSeq mRNA: 1 — MANE Select: NM_006943 NM_006943

CCDS: CCDS12995

Canonical transcript exons

ENST00000342665 — 1 exons

Exon	Start	End
ENSE00001402660	325552	330224

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 95.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.1449 / max 261.2606, expressed in 1724 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183006	11.7360	1628
183004	8.7443	1606
183003	1.8782	1152
183005	0.7864	428

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	95.46	gold quality
ganglionic eminence	UBERON:0004023	93.09	gold quality
ventricular zone	UBERON:0003053	92.20	gold quality
embryo	UBERON:0000922	84.40	gold quality
stromal cell of endometrium	CL:0002255	83.35	gold quality
apex of heart	UBERON:0002098	82.21	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.66	gold quality
cerebellar hemisphere	UBERON:0002245	81.15	gold quality
cerebellar cortex	UBERON:0002129	81.01	gold quality
right uterine tube	UBERON:0001302	80.19	gold quality
cerebellum	UBERON:0002037	79.88	gold quality
right adrenal gland cortex	UBERON:0035827	79.76	gold quality
sural nerve	UBERON:0015488	79.45	gold quality
right ovary	UBERON:0002118	79.41	gold quality
right adrenal gland	UBERON:0001233	79.21	gold quality
metanephros cortex	UBERON:0010533	78.52	gold quality
right frontal lobe	UBERON:0002810	78.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.48	gold quality
left ovary	UBERON:0002119	78.30	gold quality
body of uterus	UBERON:0009853	78.27	gold quality
left adrenal gland cortex	UBERON:0035825	78.19	gold quality
adrenal cortex	UBERON:0001235	78.15	gold quality
medial globus pallidus	UBERON:0002477	78.07	gold quality
vena cava	UBERON:0004087	78.02	silver quality
left adrenal gland	UBERON:0001234	77.89	gold quality
renal medulla	UBERON:0000362	77.72	gold quality
amygdala	UBERON:0001876	77.58	gold quality
left lobe of thyroid gland	UBERON:0001120	77.34	gold quality
endocervix	UBERON:0000458	77.16	gold quality
ovary	UBERON:0000992	77.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.66

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA1561.1	SOX12	SOX-related factors
MA1561.2	SOX12	SOX-related factors

JASPAR matrix evidence (PMIDs): PMID:18403418

miRNA regulators (miRDB)

166 targeting SOX12, 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-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-4455	100.00	65.48	1587
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-7845-5P	99.88	64.88	771

Literature-anchored findings (GeneRIF, showing 23)

• Functional analysis of the orthologous mouse gene. (PMID:185058)
• SOX12 and NRSN2 were identified as candidate genes that may be involved in the developmental defects in 20p13 microdeletion. (PMID:24019301)
• This genome-wide screen has identified two novel metastatic suppressors: TMED3 and SOX12, the knockdown of which increases metastatic growth after direct seeding. (PMID:24920608)
• Up-regulated Sox12 induced by FoxQ1 promotes hepatocellular carcinoma invasion and metastasis by transactivating Twist1 and FGFBP1 expression. (PMID:25704764)
• In this study we screened the transcriptional profiles of 70 MCL patients for SOXC cluster and miR17, miR18a, miR19b and miR92a, from the miR-17-92 cluster. Gene expression analysis showed higher SOX11 and SOX12 levels compared to SOX4 (P </= 0.0026). Moreover we found a negative correlation between the expression of SOX11 and SOX4 (PMID:26998831)
• SOX12 may be involved in leukemia progression by regulating the expression of beta-catenin and then interfering with TCF/Wnt pathway, which may be a target for AML. (PMID:27858992)
• SOX12 can increase the expression of CDK4 and IGF2BP1, which confer malignant phenotypes to HepatocellularCarcinoma. (PMID:28975985)
• Data found that, in hepatocellular carcinoma (HCC) cell lines, Sox12+ HCC cells generated significantly more tumor spheres in culture, were more chemo-resistant to cisplatin, were detected in circulation more frequently, and formed distal tumor more frequently compared to Sox12- HCC cells. Moreover, Sox12 appeared to functionally contribute to the stemness of HCC cells. (PMID:29127951)
• Overexpression of SOX12 promoted colorectal cancer (CRC) cell proliferation and metastasis, whereas downregulation of SOX12 hampered CRC aggressiveness. (PMID:30858360)
• SOX12 overexpression increased gastric cancer cell migration, invasion and metastasis, whereas SOX12 downregulation decreased these behaviors. (PMID:30922917)
• SOX12 was identified as a target of miR-296 which suppressed it expression in clear cell renal cell carcinoma. (PMID:31782868)
• SOX12 promotes the growth of multiple myeloma cells by enhancing Wnt/beta-catenin signaling. (PMID:31904384)
• Low SOX12 Expression Is Correlated With Poor Prognosis in Patients With Gastric Cancer. (PMID:32019439)
• MicroRNA-370 suppresses SOX12 transcription and acts as a tumor suppressor in bladder cancer. (PMID:32196581)
• LncRNA SNHG1 contributes to the regulation of acute myeloid leukemia cell growth by modulating miR-489-3p/SOX12/Wnt/beta-catenin signaling. (PMID:32592199)
• Long noncoding RNA DUXAP10 promotes the stemness of glioma cells by recruiting HuR to enhance Sox12 mRNA stability. (PMID:33340249)
• SOX12 contributes to the activation of the JAK2/STAT3 pathway and malignant transformation of esophageal squamous cell carcinoma. (PMID:33416144)
• LncRNA MNX1-AS1 promotes ovarian cancer process via targeting the miR-744-5p/SOX12 axis. (PMID:34789303)
• Identification of SOX6 and SOX12 as Prognostic Biomarkers for Clear Cell Renal Cell Carcinoma: A Retrospective Study Based on TCGA Database. (PMID:34868396)
• LncRNA UCA1 promotes SOX12 expression in breast cancer by regulating m(6)A modification of miR-375 by METTL14 through DNA methylation. (PMID:35022519)
• LINC01063 functions as an oncogene in melanoma through regulation of miR-5194-mediated SOX12 expression. (PMID:35256570)
• LncRNA CASC9 promotes cell proliferation and invasion in osteosarcoma through targeting miR-874-3p/SOX12 axis. (PMID:36266695)
• LncRNA H19 Promotes Gastric Cancer Metastasis via miR-148-3p/SOX-12 Axis. (PMID:39184399)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	sox19a	ENSDARG00000010770
danio_rerio	sox19b	ENSDARG00000040266
danio_rerio	sox32	ENSDARG00000100591
mus_musculus	Sox12	ENSMUSG00000051817
rattus_norvegicus	Nrsn2	ENSRNOG00000023935
drosophila_melanogaster	Sox14	FBGN0005612
drosophila_melanogaster	Sox15	FBGN0005613
drosophila_melanogaster	Sox100B	FBGN0024288
drosophila_melanogaster	Sox21a	FBGN0036411
drosophila_melanogaster	Sox102F	FBGN0039938
caenorhabditis_elegans		WBGENE00001182
caenorhabditis_elegans		WBGENE00015716

Paralogs (20): SOX8 (ENSG00000005513), SOX30 (ENSG00000039600), SOX10 (ENSG00000100146), SOX6 (ENSG00000110693), SOX4 (ENSG00000124766), SOX21 (ENSG00000125285), SOX9 (ENSG00000125398), SOX15 (ENSG00000129194), SOX5 (ENSG00000134532), SOX3 (ENSG00000134595), SOX13 (ENSG00000143842), SOX17 (ENSG00000164736), SOX14 (ENSG00000168875), SOX7 (ENSG00000171056), SOX11 (ENSG00000176887), CFAP65 (ENSG00000181378), SOX2 (ENSG00000181449), SOX1 (ENSG00000182968), SRY (ENSG00000184895), SOX18 (ENSG00000203883)

Protein

Protein identifiers

Transcription factor SOX-12 — O15370 (reviewed: O15370)

Alternative names: Protein SOX-22

All UniProt accessions (1): O15370

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that binds to DNA at the consensus sequence 5’-ACCAAAG-3’. Acts as a transcriptional activator. Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation. Involved in the differentiation of naive CD4-positive T-cells into peripherally induced regulatory T (pT reg) cells under inflammatory conditions. Binds to the promoter region of the FOXP3 gene and promotes its transcription, and might thereby contribute to pT reg cell differentiation in the spleen and lymph nodes during inflammation. Plays a redundant role with SOX4 and SOX11 in cell survival of developing tissues such as the neural tube, branchial arches and somites, thereby contributing to organogenesis.

Subcellular location. Nucleus.

Tissue specificity. Expressed most abundantly in the CNS. Expressed in the heart, pancreas, thymus, testis and ovary. Weakly expressed in brain, placenta, lung, liver, skeletal muscle, kidney, spleen, prostate, small intestine, colon, and peripheral blood lymphocytes.

RefSeq proteins (1): NP_008874* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR017386	SOX-12/11/4	Family
IPR036910	HMG_box_dom_sf	Homologous_superfamily
IPR050140	SRY-related_HMG-box_TF-like	Family

Pfam: PF00505

UniProt features (11 total): compositionally biased region 6, region of interest 3, chain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15370-F1	65.03	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 235 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_CELL_ACTIVATION, ACTACCT_MIR196A_MIR196B, WWTAAGGC_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, AP4_Q6, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, TAL1ALPHAE47_01, AP2_Q3, CACCAGC_MIR138, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5

GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), brain development (GO:0007420), spinal cord development (GO:0021510), neuron differentiation (GO:0030182), positive regulation of regulatory T cell differentiation (GO:0045591), positive regulation of transcription by RNA polymerase II (GO:0045944), camera-type eye morphogenesis (GO:0048593)

GO Molecular Function (6): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), sequence-specific double-stranded DNA binding (GO:1990837)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), protein-DNA complex (GO:0032993)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
central nervous system development	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
animal organ development	1
head development	1
anatomical structure development	1
cell differentiation	1
generation of neurons	1
regulatory T cell differentiation	1
positive regulation of T cell differentiation	1
regulation of regulatory T cell differentiation	1
positive regulation of DNA-templated transcription	1
camera-type eye development	1
eye morphogenesis	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
protein-containing complex	1

Protein interactions and networks

STRING

774 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SOX12	NRSN2	Q9GZP1	528
SOX12	SOX4	Q06945	432
SOX12	TEAD2	Q15562	362
SOX12	HOXA11	P31270	343
SOX12	FOXQ1	Q9C009	311
SOX12	FOXP4	Q8IVH2	308
SOX12	FGFBP1	Q14512	305
SOX12	TRAF5	O00463	299
SOX12	ANKRD13B	Q86YJ7	290
SOX12	TRAF4	Q9BUZ4	285
SOX12	TRAF1	Q13077	285
SOX12	NISCH	Q9Y2I1	285
SOX12	ZNF133	P52736	276
SOX12	TWIST1	Q15672	270
SOX12	CTNNB1	P35222	263

IntAct

6 interactions, top by confidence:

A	B	Type	Score
SOX12	MTR	psi-mi:“MI:0915”(physical association)	0.400
SMAD4	SOX12	psi-mi:“MI:0915”(physical association)	0.370
SOX12	POLD2	psi-mi:“MI:0915”(physical association)	0.370
SOX12	SRM	psi-mi:“MI:0915”(physical association)	0.370
SOX12	GYS1	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): SOX12 (Negative Genetic), SOX12 (Affinity Capture-RNA), MTR (Affinity Capture-MS), GYS1 (Affinity Capture-MS), GYG1 (Affinity Capture-MS), SOX12 (Affinity Capture-MS), SOX12 (Affinity Capture-RNA), SOX12 (Two-hybrid), SOX12 (Two-hybrid), SRM (Two-hybrid)

ESM2 similar proteins: A0A1W2PPE3, A0A2R8Y2Y2, A0A494C0N9, A0A494C0Y3, A0A7I2V3R4, A0JNN8, A2VDX9, A5A769, A5PJP1, A6QPM6, A8MTW9, C9JTQ0, O15370, O35182, O43541, O70218, O75474, O89113, O94850, P0C7X2, P0DPE3, P28283, P37318, P37319, P70339, Q04890, Q10586, Q32PF6, Q5BLP8, Q5T230, Q5U5M8, Q5VY09, Q60925, Q6IQX8, Q6NZ36, Q6NZY7, Q6QNY0, Q6ZSJ8, Q7TNS8, Q80WY3

Diamond homologs: A2TED3, A4IIJ8, A4QNG3, A5A763, A5D8R3, B0ZTE1, B0ZTE2, B3DLD3, B7ZR65, F1LYL9, O00570, O15370, O18896, O42342, O42569, O42601, O55170, O57401, O60248, O95416, P0C1G9, P35713, P35716, P40637, P40639, P40646, P40650, P40652, P40656, P40657, P43267, P43680, P47792, P48430, P48431, P48432, P48433, P48434, P48435, P48436

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
miR-342-3p	“down-regulates quantity by destabilization”	SOX12	“post transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	11
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
929370	GRCh37/hg19 20p13(chr20:63244-813880)x1	Pathogenic

SpliceAI

74 predictions. Top by Δscore:

Variant	Effect	Δscore
20:326639:G:GT	donor_gain	0.8600
20:326640:A:T	donor_gain	0.8600
20:325619:G:GT	donor_gain	0.8400
20:326644:TG:T	donor_gain	0.7200
20:326808:TTACC:T	donor_gain	0.7200
20:326447:G:GT	donor_gain	0.7000
20:326309:G:GA	donor_gain	0.6900
20:326924:G:GT	donor_gain	0.6800
20:326646:AAGAG:A	donor_gain	0.6500
20:326645:GA:G	donor_gain	0.5700
20:326659:G:GA	donor_gain	0.5700
20:330162:G:GA	acceptor_gain	0.5700
20:326647:A:G	donor_gain	0.5500
20:326308:T:TA	donor_gain	0.5300
20:326658:T:TA	donor_gain	0.5300
20:326247:A:AG	donor_gain	0.5200
20:326248:G:GG	donor_gain	0.5200
20:330163:C:A	acceptor_gain	0.5100
20:330165:T:TA	acceptor_gain	0.4900
20:326609:G:GT	donor_gain	0.4700
20:326615:G:GT	donor_gain	0.4700
20:326618:G:GT	donor_gain	0.4700
20:326273:G:GT	donor_gain	0.4500
20:330166:C:A	acceptor_gain	0.4500
20:326934:T:TG	donor_gain	0.4300
20:326809:T:A	donor_gain	0.4100
20:326621:G:GT	donor_gain	0.3800
20:326269:C:T	donor_gain	0.3600
20:326651:GAGAC:G	donor_gain	0.3300
20:326926:ATCAG:A	donor_loss	0.3300

AlphaMissense

2018 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:326043:T:A	I40N	1.000
20:326043:T:G	I40S	1.000
20:326045:A:G	K41E	1.000
20:326046:A:T	K41M	1.000
20:326047:G:C	K41N	1.000
20:326047:G:T	K41N	1.000
20:326048:A:G	R42G	1.000
20:326048:A:T	R42W	1.000
20:326049:G:C	R42T	1.000
20:326049:G:T	R42M	1.000
20:326050:G:C	R42S	1.000
20:326050:G:T	R42S	1.000
20:326051:C:A	P43T	1.000
20:326051:C:T	P43S	1.000
20:326052:C:A	P43Q	1.000
20:326052:C:G	P43R	1.000
20:326052:C:T	P43L	1.000
20:326055:T:C	M44T	1.000
20:326056:G:A	M44I	1.000
20:326056:G:C	M44I	1.000
20:326056:G:T	M44I	1.000
20:326057:A:C	N45H	1.000
20:326057:A:G	N45D	1.000
20:326057:A:T	N45Y	1.000
20:326058:A:T	N45I	1.000
20:326059:C:A	N45K	1.000
20:326059:C:G	N45K	1.000
20:326063:T:A	F47I	1.000
20:326063:T:C	F47L	1.000
20:326063:T:G	F47V	1.000

dbSNP variants (sampled 300 via entrez): RS1000287490 (20:326462 G>A,C), RS1000716575 (20:330513 G>C), RS1000771318 (20:327071 T>A,C,G), RS1000835030 (20:329257 G>A,C), RS1000896166 (20:325407 C>A), RS1000973437 (20:328978 C>A,G), RS1001169293 (20:330613 C>T), RS1001326543 (20:330378 C>G,T), RS1001328407 (20:325565 G>A,C), RS1001713915 (20:329211 G>A), RS1001746529 (20:329433 G>C), RS1002103858 (20:326328 G>C), RS1002222400 (20:324262 G>A,T), RS1003177184 (20:327281 G>A), RS1003764768 (20:327162 C>G)

Disease associations

OMIM: gene MIM:601947 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal dominant

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007010_4	Logical memory (delayed recall)	6.000000e-07
GCST007011_4	Logical memory (immediate recall)	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	5
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
dicrotophos	increases expression	1
propionaldehyde	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
1-benzylimidazole	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Aldehydes	decreases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Camptothecin	increases methylation	1
Diazinon	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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

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