CAPSL

Summary

CAPSL (calcyphosine like, HGNC:28375) is a protein-coding gene on chromosome 5p13.2, encoding Calcyphosin-like protein (Q8WWF8).

Predicted to enable calcium ion binding activity. Predicted to act upstream of or within several processes, including blood vessel morphogenesis; endothelial cell migration; and endothelial cell proliferation. Predicted to be located in cytoplasm and organelle.

Source: NCBI Gene 133690 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 48 total
• GTEx eGene: eQTL in 4 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.17 (unconstrained)
• MANE Select transcript: NM_001042625

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28375
Approved symbol	CAPSL
Name	calcyphosine like
Location	5p13.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC26610
Ensembl gene	ENSG00000152611
Ensembl biotype	protein_coding
OMIM	618799
Entrez	133690

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

MANE Select: ENST00000651391

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 1, TSL 3: 2

ENST00000651391, ENST00000397366, ENST00000397367, ENST00000513623, ENST00000514524, ENST00000902317, ENST00000986921, ENST00001098287

RefSeq mRNA: 2 — MANE Select: NM_001042625 NM_001042625, NM_144647

CCDS: CCDS3912

Canonical transcript exons

ENST00000651391 — 5 exons

Exon	Start	End
ENSE00003844118	35920984	35921120
ENSE00003844970	35938541	35938622
ENSE00003891161	35910366	35910543
ENSE00003896203	35909866	35910075
ENSE00004781195	35904288	35904646

Expression profiles

Bgee: expression breadth ubiquitous, 113 present calls, max score 99.63.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3859 / max 68.2200, expressed in 77 samples.

Highest expression (Bgee): bronchial epithelial cell, bronchus, uterine tube, oviduct epithelium, olfactory segment of nasal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CAPSL is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 4 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

4 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	3.9e-07	+0.21	5:35903895:C:T
Thyroid	eqtl	4.9e-07	+0.19	5:35938310:G:A
Testis	eqtl	8.4e-06	+0.20	5:35940263:A:G
Brain Hippocampus	eqtl	4.3e-02	-0.87	5:35820184:G:A

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
61289	0.3859	77

Top tissues by expression

showing 100 of 227 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.63	gold quality
bronchus	UBERON:0002185	99.02	gold quality
right uterine tube	UBERON:0001302	98.62	gold quality
oviduct epithelium	UBERON:0004804	97.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	95.43	gold quality
caput epididymis	UBERON:0004358	93.26	gold quality
epithelium of nasopharynx	UBERON:0001951	92.79	gold quality
nasal cavity epithelium	UBERON:0005384	91.88	gold quality
fallopian tube	UBERON:0003889	89.13	gold quality
sperm	CL:0000019	82.39	gold quality
pituitary gland	UBERON:0000007	81.30	gold quality
nasal cavity mucosa	UBERON:0001826	80.15	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.06	gold quality
adenohypophysis	UBERON:0002196	79.96	gold quality
trachea	UBERON:0003126	79.64	gold quality
right lung	UBERON:0002167	75.49	gold quality
corpus epididymis	UBERON:0004359	74.95	gold quality
left testis	UBERON:0004533	74.89	gold quality
testis	UBERON:0000473	73.12	gold quality
adult organism	UBERON:0007023	72.84	gold quality
right testis	UBERON:0004534	72.63	gold quality
endometrium	UBERON:0001295	72.43	gold quality
kidney epithelium	UBERON:0004819	69.52	gold quality
cauda epididymis	UBERON:0004360	68.52	gold quality
hypothalamus	UBERON:0001898	67.93	gold quality
left ventricle myocardium	UBERON:0006566	65.72	gold quality
left uterine tube	UBERON:0001303	65.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	65.24	gold quality
corpus callosum	UBERON:0002336	64.46	gold quality
islet of Langerhans	UBERON:0000006	63.92	gold quality
superior vestibular nucleus	UBERON:0007227	61.87	gold quality
endocervix	UBERON:0000458	61.74	gold quality
lower lobe of lung	UBERON:0008949	61.37	silver quality
lung	UBERON:0002048	60.23	gold quality
cartilage tissue	UBERON:0002418	59.87	gold quality
amygdala	UBERON:0001876	59.48	gold quality
cerebellar vermis	UBERON:0004720	59.47	gold quality
Ammon’s horn	UBERON:0001954	59.21	gold quality
tibialis anterior	UBERON:0001385	58.84	silver quality
prefrontal cortex	UBERON:0000451	58.67	gold quality
thyroid gland	UBERON:0002046	58.00	gold quality
buccal mucosa cell	CL:0002336	57.16	gold quality
left lobe of thyroid gland	UBERON:0001120	56.98	gold quality
quadriceps femoris	UBERON:0001377	56.96	gold quality
deltoid	UBERON:0001476	56.82	gold quality
caudate nucleus	UBERON:0001873	56.31	gold quality
myocardium	UBERON:0002349	56.12	gold quality
vastus lateralis	UBERON:0001379	55.30	gold quality
anterior cingulate cortex	UBERON:0009835	54.81	gold quality
forebrain	UBERON:0001890	53.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	53.85	gold quality
epithelial cell of pancreas	CL:0000083	53.69	gold quality
upper lobe of lung	UBERON:0008948	53.63	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
adult mammalian kidney	UBERON:0000082	53.44	gold quality
substantia nigra	UBERON:0002038	53.34	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	53.29	gold quality
upper lobe of left lung	UBERON:0008952	53.17	gold quality
uterus	UBERON:0000995	53.15	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	52.60	gold quality
right lobe of thyroid gland	UBERON:0001119	52.57	gold quality
oocyte	CL:0000023	52.56	gold quality
metanephros	UBERON:0000081	52.52	gold quality
biceps brachii	UBERON:0001507	52.37	gold quality
temporal lobe	UBERON:0001871	52.35	gold quality
medulla oblongata	UBERON:0001896	52.34	silver quality
midbrain	UBERON:0001891	52.17	gold quality
pancreatic ductal cell	CL:0002079	52.11	silver quality
spinal cord	UBERON:0002240	51.73	gold quality
brain	UBERON:0000955	51.68	gold quality
cerebral cortex	UBERON:0000956	51.45	gold quality
frontal cortex	UBERON:0001870	51.34	gold quality
neocortex	UBERON:0001950	51.21	gold quality
kidney	UBERON:0002113	50.40	gold quality
substantia nigra pars compacta	UBERON:0001965	50.25	gold quality
ventricular zone	UBERON:0003053	49.91	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.84	gold quality
skeletal muscle tissue	UBERON:0001134	49.83	gold quality
nucleus accumbens	UBERON:0001882	49.47	gold quality
metanephros cortex	UBERON:0010533	49.28	gold quality
ileal mucosa	UBERON:0000331	48.70	silver quality
lateral nuclear group of thalamus	UBERON:0002736	47.91	gold quality
substantia nigra pars reticulata	UBERON:0001966	47.87	gold quality
bone marrow	UBERON:0002371	47.60	silver quality
lateral globus pallidus	UBERON:0002476	47.18	gold quality
right frontal lobe	UBERON:0002810	46.76	gold quality
amniotic fluid	UBERON:0000173	46.49	gold quality
thymus	UBERON:0002370	44.83	silver quality
dorsal plus ventral thalamus	UBERON:0001897	44.59	silver quality
uterine cervix	UBERON:0000002	44.35	gold quality
pancreas	UBERON:0001264	43.89	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
body of tongue	UBERON:0011876	43.22	gold quality
female reproductive system	UBERON:0000474	42.85	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
germinal epithelium of ovary	UBERON:0001304	42.43	silver quality
upper leg skin	UBERON:0004262	41.83	silver quality
superior frontal gyrus	UBERON:0002661	41.58	silver quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	64.09
E-HCAD-1	yes	29.58
E-MTAB-10287	yes	27.77
E-GEOD-130148	yes	13.03
E-MTAB-9388	yes	7.13
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Group enriched

55 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Fallopian tube	tissue	104.2	high
Choroid plexus	tissue	52.0
Pituitary gland	tissue	12.6
Periaqueductal gray	tissue	10.5
Testis	tissue	9.1	high
Epididymis	tissue	8.0	not detected
Lung	tissue	7.2	not detected
Thymus	tissue	6.2
Thyroid gland	tissue	5.0	not detected
Caudate putamen	tissue	4.9
Basal ganglia	tissue	4.1	not detected
Hypothalamus	tissue	3.5
Corpus callosum	tissue	3.5
Septum	tissue	3.3
Hippocampal formation	tissue	3.2
Pons	tissue	2.9
Frontal cortex	tissue	2.6
Midbrain	tissue	2.4
Medulla oblongata	tissue	2.3
Cervix	tissue	2.2	not detected
Amygdala	tissue	2.1
Thalamus	tissue	2.1
Locus coeruleus	tissue	2.0
Endometrium 1	tissue	1.9	low
Olfactory bulb	tissue	1.9
Nucleus accumbens	tissue	1.8
Ventral forebrain	tissue	1.6
Superior colliculi	tissue	1.5
Substantia nigra	tissue	1.4
Cerebral cortex	tissue	1.3	not detected
Entorhinal cortex	tissue	1.3
Retrosplenial and cingulate cortex	tissue	1.3
Occipital cortex	tissue	1.3
Insular cortex	tissue	1.3
Temporal cortex	tissue	1.2
Prefrontal cortex	tissue	1.1
Parathyroid gland	tissue	1.1	not detected
Hippocampus	tissue	1.1	not detected
Retrosplenial cortex	tissue	1.1
Motor cortex	tissue	1.0
Cerebellum	tissue	1.0	not detected
Somatosensory cortex	tissue	1.0
Putamen	tissue	0.9
Spinal cord	tissue	0.8
Kidney	tissue	0.6	not detected
Pancreas	tissue	0.5	not detected
Seminal vesicle	tissue	0.3	not detected
Bone marrow	tissue	0.2	not detected
Postcentral gyrus	tissue	0.2
Breast	tissue	0.1	not detected
Stomach 1	tissue	0.1	not detected
Skeletal muscle	tissue	0.1	not detected
Prostate	tissue	0.1	not detected
Nasopharynx	tissue	-1.0	high
Bronchus	tissue	-1.0	high

Brain sub-regions (HPA Brain Atlas): detected in 173; highest nTPM — Nucleus tractus solitarii (20.2), Periaquaductal grey, lateral (20.1), Cervical spinal cord, central gray (16.0), Superior vestibular nucleus (14.5), Periaquaductal grey, dorsal (14.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CAPSL by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

17 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-505-5P	97.01	65.54	778
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-514A-3P	96.43	67.77	1048
HSA-MIR-514B-3P	96.43	67.77	1048

Functional genomics

gnomAD constraint: pLI 4.11e-05, LOEUF 1.17, missense Z -0.316 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000651391 — one region, missense o/e 1.11.

Literature-anchored findings (GeneRIF, showing 1)

• Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. (PMID:31186450)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	capslb	ENSDARG00000003414
mus_musculus	Capsl	ENSMUSG00000039676
rattus_norvegicus	Capsl	ENSRNOG00000054277
drosophila_melanogaster	CG10126	FBGN0038088
drosophila_melanogaster	CG31345	FBGN0051345

Paralogs (5): CAPS (ENSG00000105519), PHF24 (ENSG00000122733), CAPS2 (ENSG00000180881), EFCAB6 (ENSG00000186976), SPATA21 (ENSG00000187144)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1922818) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 7 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal angiogenesis	1
abnormal vascular regression	1
abnormal retina vasculature morphology	1
abnormal vascular endothelial cell migration	1
abnormal retina blood vessel morphology	1
decreased endothelial cell proliferation	1
abnormal hyaloid artery morphology	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q0VCC0	88.9%	Diamond
Oryctolagus cuniculus	P41150	87.8%	Diamond
Macaca fascicularis	Q9GKR6	80.9%	Diamond
Canis lupus familiaris	P10463	80.4%	Diamond
Faxonius limosus	P80363	70.2%	Diamond
Homarus americanus	P80364	70.2%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
UGT3A1	protein-coding	133688
UGT3A2	protein-coding	167127
IL7R	protein-coding	3575
SPEF2	protein-coding	79925
CAPSL-DT	ncRNA	100506406
MIR580	ncRNA	693165
LMBRD2	protein-coding	92255
PRLR	protein-coding	5618

Protein

Protein identifiers

Calcyphosin-like protein — Q8WWF8 (reviewed: Q8WWF8)

All UniProt accessions (3): Q8WWF8, D6RF97, D6RHD7

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

RefSeq proteins (2): NP_001036090, NP_653248 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR051581	Ca-bind	Family

Pfam: PF13499

UniProt features (18 total): binding site 10, domain 4, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures by resolution:

PDB	Title	Method	Resolution (Å)
11YJ	In situ subtomogram average of the transition zone doublet microtubule in human airway …	ELECTRON MICROSCOPY	7.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWF8-F1	91.88	0.76

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): microtubules; nucleoplasm; primary cilium; cytokinetic bridge; plasma membrane

Antibody reliability (HPA): IH enhanced · IF approved

Functional residue map

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

Ligand- & substrate-binding residues (10)

Position	Role
88	Ca(2+)
90	Ca(2+)
92	Ca(2+)
94	Ca(2+)
99	Ca(2+)
52	Ca(2+)
54	Ca(2+)
56	Ca(2+)
58	Ca(2+)
63	Ca(2+)

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 82 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_VASCULOGENESIS, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_EPITHELIAL_CELL_PROLIFERATION, GOBP_RETINA_DEVELOPMENT_IN_CAMERA_TYPE_EYE, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT, GOBP_TUBE_MORPHOGENESIS, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_SENSORY_SYSTEM_DEVELOPMENT, GSE13522_CTRL_VS_T_CRUZI_G_STRAIN_INF_SKIN_UP, GOBP_TUBE_DEVELOPMENT, PRKDC_TARGET_GENES, GSE10240_CTRL_VS_IL17_AND_IL22_STIM_PRIMARY_BRONCHIAL_EPITHELIAL_CELLS_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2

GO Molecular Function (2): calcium ion binding (GO:0005509), metal ion binding (GO:0046872)

GO Cellular Component (2): cytoplasm (GO:0005737), organelle (GO:0043226)

GO top-level categories

4 GO namespaces:

Category	Terms
cellular anatomical structure	2
metal ion binding	1
cation binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 857 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CAPSL	SAYSD1	Q9NPB0	467
CAPSL	LMBRD2	Q68DH5	445
CAPSL	EFHB	Q8N7U6	422
CAPSL	IQCJ	Q1A5X6	380
CAPSL	CIMAP3	Q8TCI5	376
CAPSL	TMIE	Q8NEW7	368
CAPSL	IL7R	P16871	367
CAPSL	CNBD2	Q96M20	360
CAPSL	CLEC16A	Q2KHT3	359
CAPSL	SPP2	Q13103	357
CAPSL	RAI2	Q9Y5P3	357
CAPSL	NAA16	Q6N069	352
CAPSL	NSRP1	Q9H0G5	345
CAPSL	JAKMIP2	Q96AA8	345
CAPSL	RAD1	O60671	343

IntAct

Human interaction partners of CAPSL in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
DLGAP5	association	0.530	1
LCN1	association	0.350	1
TUBA1B	association	0.350	1

BioGRID (16 interactions; top human partners by supporting records): APP (Reconstituted Complex), BIRC6 (Affinity Capture-MS), DDX46 (Cross-Linking-MS (XL-MS)), DLGAP5 (Affinity Capture-MS), EML4 (Affinity Capture-MS), ETAA1 (Synthetic Lethality), LCN1 (Affinity Capture-MS), NEDD8-MDP1 (Affinity Capture-MS), POLI (Reconstituted Complex), TUBA1A (Affinity Capture-MS), TUBA1B (Affinity Capture-MS), TUBA1C (Affinity Capture-MS), TUBB2A (Affinity Capture-MS), TUBB3 (Affinity Capture-MS), TUBB4B (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for CAPSL: 48 ClinVar records (0 pathogenic / likely pathogenic); 14 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	0
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 510):

Position(s)	Effect	Δscore	Sites
5:35909864–35909865	donor_loss	1.0000	5
5:35910364	donor_loss	1.0000	2
5:35922066	acceptor_gain	1.0000
5:35922070	acceptor_gain	1.0000
5:35906395	acceptor_gain	0.9900
5:35910076–35910077	acceptor_loss	0.9900	6
5:35910080	acceptor_gain	0.9900
5:35910365	donor_loss	0.9900	2
5:35910544	acceptor_gain	0.9900
5:35938539–35938540	donor_loss	0.9900	5

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Uterine Corpus Endometrial Carcinoma)

Disease associations

OMIM: gene MIM:618799 | disease phenotypes:

GWAS associations

14 associations:

Study	Trait	p-value
GCST006409_22	Allergic rhinitis	4e-32
GCST007563_11	Allergic disease (asthma, hay fever or eczema)	3e-15
GCST007564_4	Asthma or allergic disease (pleiotropy)	2e-14
GCST003184_20	Atopic dermatitis	3e-14
GCST007799_44	Asthma (adult onset)	9e-14
GCST005581_29	Primary biliary cirrhosis	2e-13
GCST007798_130	Asthma	2e-13
GCST003129_22	Primary biliary cholangitis	5e-11
GCST008916_82	Asthma	1e-10
GCST003184_28	Atopic dermatitis	2e-10
GCST90014325_68	Asthma	5e-10
GCST007036_4	Primary biliary cholangitis	2e-9
GCST011096_30	Systemic lupus erythematosus	4e-8
GCST000038_3	Type 1 diabetes	8e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:1002011	adult onset asthma

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Valproic Acid	decreases methylation, increases expression	2
Aflatoxin B1	increases methylation, decreases methylation	2
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Aspirin	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Lipopolysaccharides	increases expression, decreases reaction	1
Phenobarbital	decreases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 300 trials:

NCT	Phase	Status	Title
NCT00211796	Phase 4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	Phase 4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	Phase 4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	Phase 4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	Phase 4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	Phase 4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	Phase 4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	Phase 4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	Phase 4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	Phase 4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	Phase 4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	Phase 4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	Phase 4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	Phase 4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	Phase 4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	Phase 4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	Phase 4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	Phase 4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	Phase 4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	Phase 4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	Phase 4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	Phase 4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	Phase 4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	Phase 4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	Phase 4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	Phase 4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	Phase 4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	Phase 4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	Phase 4	RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT07770152	Phase 4	NOT_YET_RECRUITING	Semaglutide in Youth With Autism Spectrum Disorder
NCT00036231	Phase 3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	Phase 3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	Phase 3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	Phase 3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	Phase 3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	Phase 3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	Phase 3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	Phase 3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	Phase 3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	Phase 3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	Phase 3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms
NCT00549562	Phase 3	COMPLETED	Study of Paliperidone ER in Adolescents and Young Adults With Autism
NCT00584480	Phase 3	COMPLETED	Pilot Study of the Effect of Hyperbaric Oxygen Treatment on Behavioral and Biomarker Measures in Children With Autism
NCT00655174	Phase 3	COMPLETED	Fluvoxamine and Sertraline in Childhood Autism - Does SSRI Therapy Improve Behaviour and/or Mood?
NCT00881452	Phase 3	COMPLETED	A Trial of CM-AT in Children With Autism
NCT00912691	Phase 3	COMPLETED	A Trial of CM-AT in Children With Autism- Open Label Extension Study
NCT01302964	Phase 3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	Phase 3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01740869	Phase 3	COMPLETED	Autologous Bone Marrow Stem Cells for Children With Autism Spectrum Disorders
NCT01825798	Phase 3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01911442	Phase 3	COMPLETED	Lurasidone Pediatric Autism Study
NCT01914393	Phase 3	COMPLETED	Pediatric Open-Label Extension Study
NCT01972074	Phase 3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02410902	Phase 3	COMPLETED	A Trial of CM-AT in Children With Autism With All Levels of FCT (The Blum Study)
NCT02649959	Phase 3	ACTIVE_NOT_RECRUITING	An Open Label Study of CM-AT for the Treatment of Children With Autism
NCT02654743	Phase 3	COMPLETED	Open Label of Clinical Trial of Sulforaphane in Children With Autism
NCT02985749	Phase 3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	Phase 3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	Phase 3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	Phase 3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions