DPH2

Summary

DPH2 (diphthamide biosynthesis 2, HGNC:3004) is a protein-coding gene on chromosome 1p34.1, encoding 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 (Q9BQC3). Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. It is a selective cancer dependency (DepMap: 20.4% of cell lines).

This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1802 — RefSeq curated summary.

At a glance

• Gene–disease (curated): developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (Moderate, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 94 total — 2 likely-pathogenic
• Phenotypes (HPO): 53
• Cancer dependency (DepMap): dependent in 20.4% of screened cell lines
• MANE Select transcript: NM_001384

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3004
Approved symbol	DPH2
Name	diphthamide biosynthesis 2
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000132768
Ensembl biotype	protein_coding
OMIM	603456
Entrez	1802

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 11 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron, 4 protein_coding_CDS_not_defined

ENST00000255108, ENST00000396758, ENST00000459879, ENST00000471934, ENST00000476260, ENST00000477294, ENST00000490861, ENST00000492306, ENST00000495421, ENST00000524776, ENST00000527319, ENST00000527567, ENST00000529729, ENST00000530988, ENST00000532140, ENST00000534655, ENST00000534786, ENST00000866490, ENST00000866491, ENST00000866492, ENST00000922599, ENST00000922600, ENST00000922601, ENST00000955916, ENST00000955917

RefSeq mRNA: 9 — MANE Select: NM_001384 NM_001039589, NM_001319165, NM_001319166, NM_001319167, NM_001319168, NM_001319169, NM_001319170, NM_001319171, NM_001384

CCDS: CCDS41314, CCDS504

Canonical transcript exons

ENST00000255108 — 6 exons

Exon	Start	End
ENSE00001862435	43970010	43970322
ENSE00003598067	43971387	43972070
ENSE00003611171	43972415	43973369
ENSE00003650060	43970966	43971189
ENSE00003685268	43970596	43970708
ENSE00003689244	43972158	43972334

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 90.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4221 / max 99.7107, expressed in 1792 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2571	14.4221	1792

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	90.94	gold quality
muscle of leg	UBERON:0001383	90.03	gold quality
granulocyte	CL:0000094	89.79	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.63	gold quality
cervix squamous epithelium	UBERON:0006922	89.46	silver quality
body of pancreas	UBERON:0001150	89.17	gold quality
skeletal muscle organ	UBERON:0014892	88.46	gold quality
muscle organ	UBERON:0001630	88.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.54	gold quality
apex of heart	UBERON:0002098	87.40	gold quality
metanephros cortex	UBERON:0010533	87.18	gold quality
left adrenal gland cortex	UBERON:0035825	87.05	gold quality
body of stomach	UBERON:0001161	86.98	gold quality
right adrenal gland	UBERON:0001233	86.91	gold quality
left adrenal gland	UBERON:0001234	86.77	gold quality
pancreas	UBERON:0001264	86.71	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.56	silver quality
pituitary gland	UBERON:0000007	86.54	gold quality
adrenal cortex	UBERON:0001235	86.48	gold quality
mucosa of transverse colon	UBERON:0004991	86.47	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.44	gold quality
lower esophagus	UBERON:0013473	86.41	gold quality
right adrenal gland cortex	UBERON:0035827	86.37	gold quality
tongue squamous epithelium	UBERON:0006919	86.30	gold quality
spleen	UBERON:0002106	86.27	gold quality
lymph node	UBERON:0000029	86.26	gold quality
adenohypophysis	UBERON:0002196	86.02	gold quality
vermiform appendix	UBERON:0001154	86.01	gold quality
right frontal lobe	UBERON:0002810	85.89	gold quality
transverse colon	UBERON:0001157	85.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting DPH2, 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-6798-5P	100.00	65.77	699
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-6502-3P	97.86	65.43	569
HSA-MIR-4287	97.55	67.24	1247

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 20.4% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Spin-Regulated Electron Transfer and Exchange-Enhanced Reactivity in Fe4 S4 -Mediated Redox Reaction of the Dph2 Enzyme During the Biosynthesis of Diphthamide. (PMID:34302311)
• DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models. (PMID:37675463)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dph2	ENSDARG00000078077
mus_musculus	Dph2	ENSMUSG00000028540
rattus_norvegicus	Atp6v0b	ENSRNOG00000019655
drosophila_melanogaster	Dph2	FBGN0038272
caenorhabditis_elegans		WBGENE00007488

Paralogs (1): DPH1 (ENSG00000108963)

Protein

Protein identifiers

2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 — Q9BQC3 (reviewed: Q9BQC3)

Alternative names: Diphthamide biosynthesis protein 2, Diphtheria toxin resistance protein 2, S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 2

All UniProt accessions (7): Q9BQC3, E9PIY4, E9PJH6, E9PLL2, E9PMH7, E9PPU3, H0YCR5

UniProt curated annotations — full annotation on UniProt →

Function. Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase. Facilitates the reduction of the catalytic iron-sulfur cluster found in the DPH1 subunit.

Subunit / interactions. Component of the 2-(3-amino-3-carboxypropyl)histidine synthase complex composed of DPH1, DPH2, DPH3 and a NADH-dependent reductase. Interacts with DPH1.

Tissue specificity. Strongly expressed in skeletal muscle. Moderately expressed in heart, small intestine, liver, pancreas, testis and colon. Weakly expressed in brain, placenta, kidney, spleen, thymus, prostate, ovary and lymphocytes.

Disease relevance. Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (DEDSSH2) [MIM:620062] An autosomal recessive syndrome characterized by developmental delay with variably impaired intellectual development and speech delay, short stature, abnormal head circumference, dysmorphic facial features, and sparse scalp hair. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 [4Fe-4S] cluster per subunit. The cluster facilitates the reduction of the catalytic iron-sulfur cluster in the DPH1 subunit.

Pathway. Protein modification; peptidyl-diphthamide biosynthesis.

Similarity. Belongs to the DPH1/DPH2 family. DPH2 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BQC3-1	1	yes
Q9BQC3-2	2
Q9BQC3-3	3

RefSeq proteins (9): NP_001034678, NP_001306094, NP_001306095, NP_001306096, NP_001306097, NP_001306098, NP_001306099, NP_001306100, NP_001375* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010014	DHP2	Family
IPR016435	DPH1/DPH2	Family
IPR042263	DPH1/DPH2_1	Homologous_superfamily
IPR042265	DPH1/DPH2_3	Homologous_superfamily

Pfam: PF01866

UniProt features (20 total): modified residue 7, sequence conflict 4, binding site 3, splice variant 3, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQC3-F1	83.60	0.54

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 (3): 89; 110; 341

Post-translational modifications (7): 488, 1, 7, 435, 446, 456, 467

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5358493	Synthesis of diphthamide-EEF2

MSigDB gene sets: 276 (showing top): MODULE_45, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, MODULE_16, PUJANA_CHEK2_PCC_NETWORK, MODULE_118, chr1p34, ATTCTTT_MIR186, MODULE_88, NRSF_01, GOCC_TRANSFERASE_COMPLEX, MODULE_55, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, SCGGAAGY_ELK1_02, MODULE_13

GO Biological Process (1): protein histidyl modification to diphthamide (GO:0017183)

GO Molecular Function (5): metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), 2-(3-amino-3-carboxypropyl)histidine synthase activity (GO:0090560), protein binding (GO:0005515), iron-sulfur cluster binding (GO:0051536)

GO Cellular Component (3): cytosol (GO:0005829), 2-(3-amino-3-carboxypropyl)histidine synthase complex (GO:0120513), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peptidyl-histidine modification	1
cation binding	1
iron-sulfur cluster binding	1
transferase activity, transferring alkyl or aryl (other than methyl) groups	1
binding	1
metal cluster binding	1
cytoplasm	1
cellular anatomical structure	1
transferase complex	1
cellular_component	1

Protein interactions and networks

STRING

1282 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPH2	DPH5	Q9H2P9	994
DPH2	EEF2	P13639	946
DPH2	DPH3	Q96FX2	914
DPH2	DPH7	Q9BTV6	892
DPH2	DNAJC24	Q6P3W2	888
DPH2	DPH6	Q7L8W6	815
DPH2	DPH1	Q9BZG8	756
DPH2	OVCA2	Q8WZ82	683
DPH2	ATP6V0B	Q99437	619
DPH2	ELP5	Q8TE02	588
DPH2	SERGEF	Q9UGK8	539
DPH2	ELP3	Q9H9T3	507
DPH2	URM1	Q9BTM9	494
DPH2	A0A1W2PS29	A0A1W2PS29	483
DPH2	A0A1W2PPQ1	A0A1W2PPQ1	479

IntAct

57 interactions, top by confidence:

A	B	Type	Score
NHERF2	PODXL	psi-mi:“MI:0914”(association)	0.770
WIPI2	BNIP3L	psi-mi:“MI:0914”(association)	0.640
STIM2	PRKAB2	psi-mi:“MI:0914”(association)	0.640
IL17A	DPH2	psi-mi:“MI:0915”(physical association)	0.560
DPH2	IL17A	psi-mi:“MI:0915”(physical association)	0.560
DPH2	GCD7	psi-mi:“MI:0915”(physical association)	0.560
DPH2	DPH1	psi-mi:“MI:0915”(physical association)	0.560
GCD7	DPH2	psi-mi:“MI:0915”(physical association)	0.560
DPH1	DPH2	psi-mi:“MI:0915”(physical association)	0.560
FARS2	DPH2	psi-mi:“MI:0915”(physical association)	0.560
TNK2	DPH2	psi-mi:“MI:0915”(physical association)	0.560
DPH2	NEK6	psi-mi:“MI:0915”(physical association)	0.560
MISP	DPH2	psi-mi:“MI:0915”(physical association)	0.560
CRYGA	DPH2	psi-mi:“MI:0915”(physical association)	0.560
MAGOH	DPH2	psi-mi:“MI:0915”(physical association)	0.560
DPH3	ATE1	psi-mi:“MI:0914”(association)	0.530
BAG2	HGS	psi-mi:“MI:0914”(association)	0.530
COLEC12	CSPG5	psi-mi:“MI:0914”(association)	0.530
HSPA8	ARHGEF10	psi-mi:“MI:2364”(proximity)	0.480
DPH2	DPH1	psi-mi:“MI:0915”(physical association)	0.400
HSPA8	PPP6C	psi-mi:“MI:0914”(association)	0.350
RGS20	PGP	psi-mi:“MI:0914”(association)	0.350
RBFOX2	PRMT5	psi-mi:“MI:0914”(association)	0.350
HSPBP1	HGS	psi-mi:“MI:0914”(association)	0.350
FAM219B	SPAG9	psi-mi:“MI:0914”(association)	0.350

BioGRID (66): IL17A (Two-hybrid), DPH2 (Affinity Capture-MS), DPH2 (Affinity Capture-MS), DPH2 (Affinity Capture-MS), DPH2 (Affinity Capture-MS), CDA (Co-fractionation), DPH1 (Co-fractionation), DPH2 (Co-fractionation), DPH2 (Co-fractionation), DPH2 (Co-fractionation), DPH2 (Co-fractionation), DPH2 (Co-fractionation), DPH2 (Co-fractionation), DPYSL2 (Co-fractionation), EEF2 (Co-fractionation)

ESM2 similar proteins: A0A061IR73, A6H687, A6NKF1, D3KCC4, E1BD59, G3MY25, G3MZC5, O00634, O75064, P0C5W1, P20863, P27539, P52824, P54777, Q002B5, Q08DM2, Q0VCE3, Q13608, Q17RN3, Q2TBW5, Q3U0S6, Q4VYA0, Q53EQ6, Q561R2, Q568Y2, Q5BK61, Q5JR98, Q5RE82, Q5U651, Q6F5E8, Q6NY19, Q6ZS72, Q8BH83, Q8C052, Q8CDY7, Q8VIM9, Q8WZA9, Q90343, Q90ZN1, Q92985

Diamond homologs: A4QN59, A7SKJ3, B0G132, P0CN20, P0CN21, Q002B5, Q08DM2, Q09454, Q10206, Q4I5M4, Q4PA25, Q4WN99, Q568Y2, Q5B2Q1, Q5RE82, Q5ZKI2, Q6BMF6, Q6DE00, Q757B6, Q7S5C0, Q9BQC3, Q9CR25, O58832, Q59MG1, A0A1D8PL26, P32461, P49958, Q59SJ9, Q6CGE7, Q5ZHX9, Q6CS90, Q6FPD9, Q9BZG8, A0A8C2MDK8, Q3SYT1, Q3T7C9, Q5NCQ5, Q8SUZ5, P0CN18, P0CN19

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	76
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1687066	NM_001384.5(DPH2):c.1429C>T (p.Arg477Ter)	Likely pathogenic
2671662	NM_001384.5(DPH2):c.224C>G (p.Ser75Ter)	Likely pathogenic

SpliceAI

1073 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43970269:GT:G	donor_gain	1.0000
1:43970321:GA:G	donor_gain	1.0000
1:43970323:G:GG	donor_gain	1.0000
1:43970328:G:GT	donor_gain	1.0000
1:43970671:TCA:T	donor_gain	1.0000
1:43971458:G:GG	donor_gain	1.0000
1:43970329:A:T	donor_gain	0.9900
1:43970340:G:GT	donor_gain	0.9900
1:43970340:G:T	donor_gain	0.9900
1:43970341:A:T	donor_gain	0.9900
1:43970706:C:T	donor_gain	0.9900
1:43971159:C:G	donor_gain	0.9900
1:43971163:G:GG	donor_gain	0.9900
1:43971188:GG:G	donor_gain	0.9900
1:43971189:GG:G	donor_gain	0.9900
1:43972153:TTCA:T	acceptor_loss	0.9900
1:43972154:TCA:T	acceptor_loss	0.9900
1:43972155:CA:C	acceptor_loss	0.9900
1:43972156:A:AG	acceptor_gain	0.9900
1:43972156:AG:A	acceptor_gain	0.9900
1:43972157:G:GG	acceptor_gain	0.9900
1:43972157:GG:G	acceptor_gain	0.9900
1:43972157:GGCT:G	acceptor_gain	0.9900
1:43970266:G:GT	donor_gain	0.9800
1:43970266:GGAGT:G	donor_gain	0.9800
1:43970267:GAGT:G	donor_gain	0.9800
1:43970267:GAGTG:G	donor_gain	0.9800
1:43970284:C:T	donor_gain	0.9800
1:43970312:G:GT	donor_gain	0.9800
1:43970312:G:T	donor_gain	0.9800

AlphaMissense

3069 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43971735:C:A	A278D	0.968
1:43971838:G:C	K312N	0.968
1:43971838:G:T	K312N	0.968
1:43971908:T:C	F336L	0.968
1:43971910:T:A	F336L	0.968
1:43971910:T:G	F336L	0.968
1:43971016:T:A	I104K	0.961
1:43971912:T:A	V337E	0.961
1:43971551:T:C	F217L	0.960
1:43971553:C:A	F217L	0.960
1:43971553:C:G	F217L	0.960
1:43971756:G:A	G285E	0.959
1:43971889:C:A	N329K	0.959
1:43971889:C:G	N329K	0.959
1:43971891:T:C	F330S	0.959
1:43970609:T:C	F54S	0.957
1:43971744:C:A	A281D	0.949
1:43971162:A:C	S153R	0.947
1:43971164:T:A	S153R	0.947
1:43971164:T:G	S153R	0.947
1:43971021:T:C	F106L	0.945
1:43971023:T:A	F106L	0.945
1:43971023:T:G	F106L	0.945
1:43972002:C:A	A367D	0.945
1:43971510:T:C	F203S	0.944
1:43971734:G:C	A278P	0.943
1:43972438:T:A	W457R	0.943
1:43972438:T:C	W457R	0.943
1:43970680:T:C	F78L	0.942
1:43970682:C:A	F78L	0.942

dbSNP variants (sampled 300 via entrez): RS1000148039 (1:43971132 C>T), RS1000553596 (1:43969742 GTTC>G), RS1000624774 (1:43970836 A>G), RS1000769331 (1:43970671 T>C), RS1001653886 (1:43971604 G>A,C), RS1001805382 (1:43971742 T>A), RS1001869623 (1:43970451 C>T), RS1001937816 (1:43971855 C>G,T), RS1002505917 (1:43973307 G>A), RS1002760974 (1:43972857 G>A), RS1002815133 (1:43973196 C>A,T), RS1004020810 (1:43970528 G>A,C,T), RS1004094009 (1:43970606 A>G), RS1004882345 (1:43971771 C>G), RS1005995840 (1:43972917 C>T)

Disease associations

OMIM: gene MIM:603456 | disease phenotypes: MIM:620062

GenCC curated gene-disease

Disease	Classification	Inheritance
developmental delay with short stature, dysmorphic facial features, and sparse hair 2	Moderate	Autosomal recessive

Mondo (2): developmental delay with short stature, dysmorphic facial features, and sparse hair 2 (MONDO:0100217), intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000034	Hydrocele testis
HP:0000077	Abnormality of the kidney
HP:0000175	Cleft palate
HP:0000238	Hydrocephalus
HP:0000243	Trigonocephaly
HP:0000248	Brachycephaly
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000286	Epicanthus
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000494	Downslanted palpebral fissures
HP:0000687	Widely spaced teeth
HP:0000739	Anxiety
HP:0000805	Enuresis
HP:0000954	Single transverse palmar crease
HP:0001156	Brachydactyly
HP:0001181	Adducted thumb
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001305	Dandy-Walker malformation
HP:0001320	Cerebellar vermis hypoplasia
HP:0001631	Atrial septal defect
HP:0001650	Aortic valve stenosis
HP:0001763	Pes planus
HP:0001800	Hypoplastic toenails

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST004521_235	Autism spectrum disorder or schizophrenia	4.000000e-10

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	2
Estradiol	increases expression	2
Tretinoin	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
bisphenol S	increases methylation	1
Irinotecan	decreases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases reaction, affects binding	1
Acrolein	increases abundance, affects cotreatment, increases oxidation	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Diazinon	increases methylation	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Ethyl Methanesulfonate	decreases expression	1
Hydrogen Peroxide	affects expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1QC	Abcam HeLa DPH2 KO	Cancer cell line	Female
CVCL_E1VT	HAP1 DPH2 (-)	Cancer cell line	Male

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