CDH15

Summary

CDH15 (cadherin 15, HGNC:1754) is a protein-coding gene on chromosome 16q24.3, encoding Cadherin-15 (P55291). Cadherins are calcium-dependent cell adhesion proteins.

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation.

Source: NCBI Gene 1013 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant non-syndromic intellectual disability (Supportive, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 388 total
• Phenotypes (HPO): 4
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_004933

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1754
Approved symbol	CDH15
Name	cadherin 15
Location	16q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000129910
Ensembl biotype	protein_coding
OMIM	114019
Entrez	1013

Gene structure

Transcript identifiers

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

ENST00000289746, ENST00000521087, ENST00000524089, ENST00000859655, ENST00000967215, ENST00000967216

RefSeq mRNA: 1 — MANE Select: NM_004933 NM_004933

CCDS: CCDS10976

Canonical transcript exons

ENST00000289746 — 14 exons

Exon	Start	End
ENSE00000892964	89193755	89193913
ENSE00000892967	89188100	89188285
ENSE00000910236	89185173	89185333
ENSE00001176597	89193470	89193606
ENSE00001176603	89192205	89192444
ENSE00001176610	89191655	89191894
ENSE00001176615	89191330	89191472
ENSE00001176627	89190243	89190496
ENSE00001176643	89187429	89187557
ENSE00001176686	89194862	89195492
ENSE00003553799	89183548	89183692
ENSE00003602294	89180200	89180355
ENSE00003645606	89179416	89179574
ENSE00003684580	89171748	89171873

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 95.47.

FANTOM5 (CAGE): breadth broad, TPM avg 7.2890 / max 479.3927, expressed in 553 samples.

FANTOM5 promoters (17 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154761	21.3554	540
155578	6.2311	303
154760	0.9119	348
155580	0.3160	80
154754	0.2399	88
154764	0.2323	132
155579	0.2270	105
154758	0.1865	62
154759	0.1605	52
154753	0.1535	75

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	95.47	gold quality
cerebellar cortex	UBERON:0002129	95.38	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.46	gold quality
cerebellum	UBERON:0002037	93.37	gold quality
gastrocnemius	UBERON:0001388	93.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.39	gold quality
muscle of leg	UBERON:0001383	90.75	gold quality
muscle organ	UBERON:0001630	88.79	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.67	silver quality
gluteal muscle	UBERON:0002000	84.15	silver quality
skeletal muscle tissue	UBERON:0001134	84.14	gold quality
diaphragm	UBERON:0001103	82.68	gold quality
inferior olivary complex	UBERON:0002127	82.06	gold quality
tibialis anterior	UBERON:0001385	81.53	silver quality
heart right ventricle	UBERON:0002080	81.25	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	80.41	silver quality
muscle tissue	UBERON:0002385	77.88	gold quality
tendon of biceps brachii	UBERON:0008188	76.96	silver quality
endometrium epithelium	UBERON:0004811	76.55	gold quality
deltoid	UBERON:0001476	76.44	silver quality
paraflocculus	UBERON:0005351	75.14	gold quality
Brodmann (1909) area 46	UBERON:0006483	74.95	gold quality
tibia	UBERON:0000979	74.82	gold quality
cerebellar vermis	UBERON:0004720	74.61	gold quality
tongue squamous epithelium	UBERON:0006919	74.49	gold quality
pancreatic ductal cell	CL:0002079	72.61	silver quality
medial globus pallidus	UBERON:0002477	72.23	gold quality
nasal cavity epithelium	UBERON:0005384	72.00	gold quality
type B pancreatic cell	CL:0000169	71.95	gold quality
sural nerve	UBERON:0015488	71.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	17.23
E-ANND-3	no	2.74

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BHLHE40, FOXA3, MYF5, MYOD1, MYOG

miRNA regulators (miRDB)

24 targeting CDH15, 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-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-6890-3P	97.50	65.71	997
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-6762-5P	96.55	64.62	972

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 3)

• The cell adhesion molecule M-cadherin is not essential for muscle development and regeneration. (PMID:12052883)
• Alterations in CDH15 in patients with mild to severe intellectual disability are reported. (PMID:19012874)
• A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention. (PMID:31854260)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdh15	ENSDARG00000068191
mus_musculus	Cdh15	ENSMUSG00000031962
rattus_norvegicus	Cdh15	ENSRNOG00000027954

Paralogs (33): CDH1 (ENSG00000039068), CDH10 (ENSG00000040731), CDH3 (ENSG00000062038), CDH19 (ENSG00000071991), CDHR2 (ENSG00000074276), CDH17 (ENSG00000079112), CDH7 (ENSG00000081138), PCDH11Y (ENSG00000099715), CDHR5 (ENSG00000099834), CDH20 (ENSG00000101542), PCDH11X (ENSG00000102290), CDH23 (ENSG00000107736), CDH9 (ENSG00000113100), CDH6 (ENSG00000113361), CDH26 (ENSG00000124215), CDHR3 (ENSG00000128536), CDH24 (ENSG00000139880), CDH11 (ENSG00000140937), CDH13 (ENSG00000140945), CDH18 (ENSG00000145526), CDHR1 (ENSG00000148600), CDH22 (ENSG00000149654), CDH8 (ENSG00000150394), CDH12 (ENSG00000154162), PCDH1 (ENSG00000156453), DCHS1 (ENSG00000166341), PCDH7 (ENSG00000169851), CDH2 (ENSG00000170558), CDH4 (ENSG00000179242), CDH5 (ENSG00000179776), PCDH9 (ENSG00000184226), DCHS2 (ENSG00000197410), PCDH20 (ENSG00000280165)

Protein

Protein identifiers

Cadherin-15 — P55291 (reviewed: P55291)

Alternative names: Cadherin-14, Muscle cadherin

All UniProt accessions (1): P55291

UniProt curated annotations — full annotation on UniProt →

Function. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in the brain and cerebellum.

Disease relevance. A chromosomal aberration involving CDH15 and KIRREL3 is found in a patient with severe intellectual disability and dysmorphic facial features. Translocation t(11;16)(q24.2;q24). Intellectual developmental disorder, autosomal dominant 3 (MRD3) [MIM:612580] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

RefSeq proteins (1): NP_004924* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000233	Cadherin_Y-type_LIR	Domain
IPR002126	Cadherin-like_dom	Domain
IPR015919	Cadherin-like_sf	Homologous_superfamily
IPR020894	Cadherin_CS	Conserved_site
IPR027397	Catenin-bd_sf	Homologous_superfamily
IPR039808	Cadherin	Family

Pfam: PF00028, PF01049

UniProt features (23 total): domain 5, glycosylation site 4, sequence variant 4, region of interest 2, mutagenesis site 2, topological domain 2, signal peptide 1, propeptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55291-F1	78.70	0.50

Functional residue map

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

Glycosylation sites (4): 227, 531, 538, 576

Mutagenesis-validated functional residues (2):

Position	Phenotype
103	no effect on cell-cell adhesion.
109	no effect on cell-cell adhesion.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-418990	Adherens junctions interactions
R-HSA-525793	Myogenesis
R-HSA-1266738	Developmental Biology
R-HSA-1500931	Cell-Cell communication
R-HSA-421270	Cell-cell junction organization
R-HSA-446728	Cell junction organization

MSigDB gene sets: 428 (showing top): GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EPITHELIUM_DEVELOPMENT, MYOGENIN_Q6, GOBP_PHENOL_CONTAINING_COMPOUND_BIOSYNTHETIC_PROCESS, GU_PDEF_TARGETS_DN, chr16q22, JAEGER_METASTASIS_DN, GOBP_KERATINOCYTE_PROLIFERATION, SP3_Q3, AREB6_03, GAUSSMANN_MLL_AF4_FUSION_TARGETS_E_UP, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_REGULATION_OF_HAIR_CYCLE, CAGCTG_AP4_Q5

GO Biological Process (9): cell morphogenesis (GO:0000902), cell-cell junction assembly (GO:0007043), cell adhesion (GO:0007155), homophilic cell-cell adhesion (GO:0007156), calcium-dependent cell-cell adhesion (GO:0016339), cell migration (GO:0016477), adherens junction organization (GO:0034332), cell-cell adhesion mediated by cadherin (GO:0044331), cell-cell adhesion (GO:0098609)

GO Molecular Function (5): calcium ion binding (GO:0005509), beta-catenin binding (GO:0008013), cadherin binding (GO:0045296), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), caveola (GO:0005901), adherens junction (GO:0005912), catenin complex (GO:0016342), neuromuscular junction (GO:0031594), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell-cell adhesion	3
cell-cell junction organization	2
anatomical structure morphogenesis	1
cell junction assembly	1
cellular process	1
cell motility	1
cell adhesion	1
metal ion binding	1
protein binding	1
cell adhesion molecule binding	1
binding	1
cation binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
plasma membrane raft	1
cell-cell junction	1
extrinsic component of plasma membrane	1
plasma membrane protein complex	1
synapse	1
extracellular vesicle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1740 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDH15	CTNNB1	P35222	869
CDH15	MYF5	P13349	795
CDH15	KIRREL3	Q8IZU9	769
CDH15	PAX7	P23759	707
CDH15	CTNND1	O60716	696
CDH15	CTNNA1	P35221	695
CDH15	MYOD1	P15172	678
CDH15	CDH6	P55285	669
CDH15	CDH19	Q9H159	668
CDH15	CDH20	Q9HBT6	659
CDH15	CDH10	Q9Y6N8	656
CDH15	CDH7	Q9ULB5	656
CDH15	MYOG	P15173	636
CDH15	CDH2	P19022	623
CDH15	MYF6	P23409	577

IntAct

17 interactions, top by confidence:

A	B	Type	Score
SGTA	CDH15	psi-mi:“MI:0915”(physical association)	0.720
TAX1BP3	ARVCF	psi-mi:“MI:0914”(association)	0.690
CDH15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
CDH15	SGTB	psi-mi:“MI:0915”(physical association)	0.560
CTNNB1	IGLL5	psi-mi:“MI:0914”(association)	0.350
CDH15	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000
CDH15	SGTA	psi-mi:“MI:0915”(physical association)	0.000
CDH15	SGTB	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): SGTA (Two-hybrid), CDH15 (Affinity Capture-Western), CDH15 (Affinity Capture-Western), CDH15 (Affinity Capture-RNA), CDH15 (Reconstituted Complex), CDH15 (Two-hybrid), CDH15 (Two-hybrid), UBQLN2 (Two-hybrid), SGTB (Two-hybrid), CDH15 (Affinity Capture-MS), CDH15 (Affinity Capture-MS), CDH15 (Affinity Capture-MS), ARVCF (Affinity Capture-Western), ARVCF (Reconstituted Complex), Ctnnb1 (Affinity Capture-Western)

ESM2 similar proteins: D4ACX8, E9PVD3, O35161, O60500, P33146, P55291, Q2PZL6, Q5DRA2, Q5DRA3, Q5DRA4, Q5DRC3, Q5DRC4, Q5DRC6, Q5DRC7, Q5DRC8, Q5DRC9, Q5DRD1, Q5DRD2, Q5DRD3, Q5DRD6, Q5DRD9, Q5DRF1, Q5SZK8, Q6PFX6, Q6V0I7, Q6V1P9, Q86UP0, Q91XZ2, Q91XZ4, Q96JQ0, Q96MS0, Q96TA0, Q9HCU4, Q9NRJ7, Q9NYQ6, Q9QYP2, Q9R0M0, Q9UN66, Q9UN67, Q9UN70

Diamond homologs: A0A8M2BIB6, B0KW95, B2KI42, B4USZ0, F1PAA9, H2EQR6, O18926, O35902, O55075, O55111, O88277, P08641, P09803, P10287, P10288, P12830, P15116, P19022, P19534, P19535, P20310, P22223, P24503, P30944, P32926, P33145, P33146, P33147, P33148, P33150, P33152, P33545, P39038, P55283, P55290, P55291, P55292, P55849, P55850, P79883

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
calcium(2+)	“up-regulates activity”	CDH15	“chemical activation”
CDH15	“up-regulates activity”	CTNNB1	binding
CDH15	“up-regulates activity”	CDON	binding
CDH4	“down-regulates quantity by repression”	CDH15

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	254
Likely benign	90
Benign	17

Top pathogenic / likely-pathogenic (0)

SpliceAI

4814 predictions. Top by Δscore:

Variant	Effect	Δscore
16:68676383:A:AG	acceptor_gain	1.0000
16:68676384:G:GC	acceptor_gain	1.0000
16:68676384:GT:G	acceptor_gain	1.0000
16:68678128:TTGCA:T	acceptor_loss	1.0000
16:68678129:TGCA:T	acceptor_loss	1.0000
16:68678130:GCAG:G	acceptor_loss	1.0000
16:68678131:CA:C	acceptor_loss	1.0000
16:68678133:G:GC	acceptor_loss	1.0000
16:68678274:TCAGG:T	donor_loss	1.0000
16:68678275:CAGG:C	donor_loss	1.0000
16:68678276:AGG:A	donor_loss	1.0000
16:68678277:GGTA:G	donor_loss	1.0000
16:68678279:T:A	donor_loss	1.0000
16:68678497:CCAG:C	acceptor_loss	1.0000
16:68678498:CAGC:C	acceptor_loss	1.0000
16:68678499:A:AG	acceptor_gain	1.0000
16:68678499:AG:A	acceptor_loss	1.0000
16:68678500:G:A	acceptor_loss	1.0000
16:68678500:G:GG	acceptor_gain	1.0000
16:68678500:GCT:G	acceptor_gain	1.0000
16:68678500:GCTCA:G	acceptor_gain	1.0000
16:68678650:G:GG	donor_gain	1.0000
16:68678759:CA:C	acceptor_loss	1.0000
16:68678760:A:AC	acceptor_loss	1.0000
16:68678760:A:AG	acceptor_gain	1.0000
16:68678761:G:GT	acceptor_gain	1.0000
16:68678761:GC:G	acceptor_gain	1.0000
16:68678761:GCT:G	acceptor_gain	1.0000
16:68678761:GCTC:G	acceptor_gain	1.0000
16:68678761:GCTCT:G	acceptor_gain	1.0000

AlphaMissense

5254 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:89183615:T:A	V142D	0.999
16:89183627:A:T	N146I	0.999
16:89183628:T:A	N146K	0.999
16:89183628:T:G	N146K	0.999
16:89179514:G:C	W47C	0.998
16:89179514:G:T	W47C	0.998
16:89180282:T:C	F95S	0.998
16:89180333:G:C	R112P	0.998
16:89183630:A:C	D147A	0.998
16:89179512:T:A	W47R	0.997
16:89179512:T:C	W47R	0.997
16:89180336:A:T	E113V	0.997
16:89183561:C:A	A124D	0.997
16:89183603:T:C	L138P	0.997
16:89183609:T:G	I140S	0.997
16:89183621:A:T	D144V	0.997
16:89183627:A:C	N146T	0.997
16:89183629:G:C	D147H	0.997
16:89183630:A:T	D147V	0.997
16:89183639:C:A	P150Q	0.997
16:89185208:G:C	D180H	0.997
16:89179540:A:T	E56V	0.996
16:89180201:T:C	I68T	0.996
16:89180236:T:G	Y80D	0.996
16:89180302:G:T	G102W	0.996
16:89180303:G:A	G102E	0.996
16:89180303:G:T	G102V	0.996
16:89183609:T:A	I140N	0.996
16:89183620:G:C	D144H	0.996
16:89183621:A:C	D144A	0.996

dbSNP variants (sampled 300 via entrez): RS1000124440 (16:89194292 C>T), RS1000160110 (16:89172690 C>G), RS1000215149 (16:89185520 G>A), RS1000409040 (16:89194446 A>G), RS1000430407 (16:89191965 G>A,C,T), RS1000461188 (16:89194946 G>T), RS1000510421 (16:89177036 G>A), RS1000567235 (16:89185752 G>A,C), RS1000821703 (16:89177971 GTGGGGCCGGGC>G), RS1001050542 (16:89182061 T>A,C), RS1001113335 (16:89178070 G>C), RS1001113547 (16:89180597 G>A), RS1001196980 (16:89194471 G>C), RS1001250534 (16:89173643 A>T), RS1001368425 (16:89191222 T>C)

Disease associations

OMIM: gene MIM:114019 | disease phenotypes: MIM:612580, MIM:162200, MIM:156200, MIM:193400

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant non-syndromic intellectual disability	Supportive	Autosomal dominant
intellectual disability, autosomal dominant 3	Limited	Autosomal dominant
intellectual disability	Disputed Evidence	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
intellectual disability	Disputed	AD

Mondo (6): intellectual disability, autosomal dominant 3 (MONDO:0012946), intellectual disability (MONDO:0001071), neurofibromatosis type 1 (MONDO:0018975), intellectual disability, autosomal dominant 1 (MONDO:0007974), von Willebrand disease 1 (MONDO:0008668), autosomal dominant non-syndromic intellectual disability (MONDO:0015802)

Orphanet (5): Neurofibromatosis type 1 (Orphanet:636), 2q23.1 microdeletion syndrome (Orphanet:228402), Von Willebrand disease type 1 (Orphanet:166078), Von Willebrand disease (Orphanet:903), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000729	Autistic behavior
HP:0001249	Intellectual disability
HP:0001250	Seizure

GWAS associations

0 associations (top):

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650
D056725	von Willebrand Disease, Type 1	C15.378.100.100.900.100; C15.378.100.141.900.100; C15.378.463.920.100; C16.320.099.920.100
C566947	Mental Retardation, Autosomal Dominant 1 (supp.)
C567241	Mental Retardation, Autosomal Dominant 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs72819363	CDH15		0.00	0

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, increases mutagenesis	2
sotorasib	decreases expression, affects cotreatment	1
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
methylselenic acid	increases expression	1
trichostatin A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
abrine	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Tunicamycin	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases expression	1
Cadmium Chloride	increases expression	1
Thapsigargin	increases expression	1
Palmitic Acid	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders