DIP2B

Summary

DIP2B (DIP2 acetate–CoA ligase B (putative), HGNC:29284) is a protein-coding gene on chromosome 12q13.12, encoding Disco-interacting protein 2 homolog B (Q9P265). Negatively regulates axonal outgrowth and is essential for normal synaptic transmission.

This gene encodes a member of the disco-interacting protein homolog 2 protein family. The encoded protein contains a binding site for the transcriptional regulator DNA methyltransferase 1 associated protein 1 as well as AMP-binding sites. The presence of these sites suggests that the encoded protein may participate in DNA methylation. This gene is located near a folate-sensitive fragile site, and CGG-repeat expansion in the promoter of this gene which affects transcription has been detected in individuals containing this fragile site on chromosome 12.

Source: NCBI Gene 57609 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, FRA12A type (Limited, GenCC)
• GWAS associations: 27
• Clinical variants (ClinVar): 289 total — 1 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 9
• MANE Select transcript: NM_173602

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29284
Approved symbol	DIP2B
Name	DIP2 acetate–CoA ligase B (putative)
Location	12q13.12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1463, FLJ34278
Ensembl gene	ENSG00000066084
Ensembl biotype	protein_coding
OMIM	611379
Entrez	57609

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000301180, ENST00000546719, ENST00000546732, ENST00000549620, ENST00000552328, ENST00000869767, ENST00000869768, ENST00000869769, ENST00000869770, ENST00000869771, ENST00000869772, ENST00000869773, ENST00000922668, ENST00000968229

RefSeq mRNA: 1 — MANE Select: NM_173602 NM_173602

CCDS: CCDS31799

Canonical transcript exons

ENST00000301180 — 38 exons

Exon	Start	End
ENSE00001345382	50744587	50748657
ENSE00001402981	50685833	50685956
ENSE00001405628	50683138	50683248
ENSE00001407127	50691049	50691151
ENSE00001426590	50686573	50686682
ENSE00001483922	50680672	50680763
ENSE00001483923	50678679	50678876
ENSE00002401888	50504985	50505240
ENSE00003462383	50741416	50741539
ENSE00003464620	50706538	50706665
ENSE00003465371	50718955	50719035
ENSE00003491656	50660194	50660319
ENSE00003502069	50734135	50734196
ENSE00003506248	50708448	50708562
ENSE00003507621	50697061	50697175
ENSE00003515913	50724775	50724886
ENSE00003516826	50735073	50735130
ENSE00003521646	50695267	50695360
ENSE00003521828	50718709	50718818
ENSE00003536830	50732366	50732536
ENSE00003541592	50739409	50739586
ENSE00003558394	50640724	50640852
ENSE00003562773	50731369	50731537
ENSE00003584527	50674474	50674629
ENSE00003594291	50704140	50704220
ENSE00003595315	50737036	50737110
ENSE00003602343	50671186	50671398
ENSE00003612792	50723202	50723323
ENSE00003621507	50675329	50675448
ENSE00003624750	50692949	50693013
ENSE00003624844	50728548	50728678
ENSE00003628794	50695848	50695967
ENSE00003640041	50721273	50721396
ENSE00003648798	50698328	50698467
ENSE00003650409	50625976	50626047
ENSE00003665388	50727703	50727812
ENSE00003671925	50699066	50699202
ENSE00003673898	50714395	50714596

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 97.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.8212 / max 1933.7253, expressed in 1818 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125434	36.9778	1817
125438	4.3311	1547
125436	0.8621	451
125437	0.5328	289
125435	0.1174	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	97.80	gold quality
cerebellar vermis	UBERON:0004720	97.73	gold quality
subthalamic nucleus	UBERON:0001906	97.33	gold quality
corpus callosum	UBERON:0002336	97.13	gold quality
medulla oblongata	UBERON:0001896	96.79	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.69	gold quality
superior vestibular nucleus	UBERON:0007227	96.44	gold quality
upper arm skin	UBERON:0004263	96.43	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.38	gold quality
pons	UBERON:0000988	96.35	gold quality
lateral globus pallidus	UBERON:0002476	96.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.05	gold quality
substantia nigra pars compacta	UBERON:0001965	95.79	gold quality
gingival epithelium	UBERON:0001949	95.09	gold quality
gingiva	UBERON:0001828	94.76	gold quality
postcentral gyrus	UBERON:0002581	94.76	gold quality
lateral nuclear group of thalamus	UBERON:0002736	94.63	gold quality
ileal mucosa	UBERON:0000331	94.53	gold quality
ventral tegmental area	UBERON:0002691	94.28	gold quality
parietal lobe	UBERON:0001872	94.11	gold quality
globus pallidus	UBERON:0001875	93.91	gold quality
medial globus pallidus	UBERON:0002477	93.09	gold quality
esophagus squamous epithelium	UBERON:0006920	93.09	gold quality
upper leg skin	UBERON:0004262	93.04	gold quality
trigeminal ganglion	UBERON:0001675	92.30	gold quality
dorsal root ganglion	UBERON:0000044	92.02	gold quality
superior frontal gyrus	UBERON:0002661	91.49	gold quality
skin of hip	UBERON:0001554	91.23	gold quality
palpebral conjunctiva	UBERON:0001812	91.11	gold quality
entorhinal cortex	UBERON:0002728	90.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	72.28
E-ANND-3	yes	6.18

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF

miRNA regulators (miRDB)

260 targeting DIP2B, 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-5692A	100.00	74.40	6850
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3605-5P	99.96	67.12	932

Literature-anchored findings (GeneRIF, showing 2)

• Deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A. (PMID:17236128)
• Multi-omics analysis to identify susceptibility genes for colorectal cancer. (PMID:33481017)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dip2ba	ENSDARG00000005350
danio_rerio	dip2bb	ENSDARG00000016348
mus_musculus	Dip2b	ENSMUSG00000023026
rattus_norvegicus	Dip2b	ENSRNOG00000056106
drosophila_melanogaster	DIP2	FBGN0024806
caenorhabditis_elegans	dip-2	WBGENE00017885

Paralogs (2): DIP2C (ENSG00000151240), DIP2A (ENSG00000160305)

Protein

Protein identifiers

Disco-interacting protein 2 homolog B — Q9P265 (reviewed: Q9P265)

All UniProt accessions (2): Q9P265, H0YIU5

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin.

Subunit / interactions. Interacts with alpha-tubulin.

Subcellular location. Cell projection. Dendrite. Axon. Perikaryon.

Tissue specificity. Moderately expressed in adult brain, placenta, skeletal muscle, heart, kidney, pancreas, lung, spleen and colon. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver. In the brain, it is expressed in the cerebral cortex; the frontal, parietal, occipital and temporal lobes; the paracentral gyrus; the pons; the corpus callosum and the hippocampus. Highest expression levels in the brain were found in the cerebral cortex and the frontal and parietal lobes.

Similarity. Belongs to the DIP2 family.

RefSeq proteins (1): NP_775873* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000873	AMP-dep_synth/lig_dom	Domain
IPR010506	DMAP1-bd	Domain
IPR025110	AMP-bd_C	Domain
IPR037337	Dip2-like_dom	Domain
IPR042099	ANL_N_sf	Homologous_superfamily
IPR045851	AMP-b_sf	Homologous_superfamily

Pfam: PF00501, PF06464, PF23024

UniProt features (28 total): modified residue 13, compositionally biased region 6, region of interest 3, sequence conflict 3, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P265-F1	78.83	0.45

Functional residue map

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

Post-translational modifications (13): 9, 50, 53, 71, 100, 140, 146, 148, 153, 178, 193, 203, 259

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 301 (showing top): GGGACCA_MIR133A_MIR133B, TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, AAGCAAT_MIR137, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_NEGATIVE_REGULATION_OF_AXON_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH

GO Biological Process (3): nervous system development (GO:0007399), negative regulation of axon extension (GO:0030517), positive regulation of peptidyl-lysine acetylation (GO:2000758)

GO Molecular Function (1): alpha-tubulin binding (GO:0043014)

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), perikaryon (GO:0043204), extracellular exosome (GO:0070062), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
neuron projection	2
system development	1
negative regulation of cell growth	1
regulation of axon extension	1
negative regulation of developmental growth	1
axon extension	1
negative regulation of axonogenesis	1
peptidyl-lysine acetylation	1
positive regulation of protein acetylation	1
regulation of peptidyl-lysine acetylation	1
tubulin binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
dendritic tree	1
neuronal cell body	1
extracellular vesicle	1

Protein interactions and networks

STRING

2966 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DIP2B	DMAP1	Q9NPF5	984
DIP2B	NCKAP5L	Q9HCH0	489
DIP2B	ZNF713	Q8N859	456
DIP2B	RIOX2	Q8IUF8	438
DIP2B	POU2AF2	Q8IXP5	432
DIP2B	FMR1	Q06787	428
DIP2B	PGP	A6NDG6	427
DIP2B	HELZ2	Q9BYK8	424
DIP2B	FRA10AC1	Q70Z53	419
DIP2B	CERS5	Q8N5B7	419
DIP2B	PARP8	Q8N3A8	413
DIP2B	FAM186A	A6NE01	406
DIP2B	POU2AF3	A8K830	402
DIP2B	ATXN3	P54252	395
DIP2B	RBPMS	Q93062	377

IntAct

46 interactions, top by confidence:

A	B	Type	Score
AUP1	UBE2G2	psi-mi:“MI:0914”(association)	0.750
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
CNKSR3	COLGALT2	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
ARFGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
SELE	SBF1	psi-mi:“MI:0914”(association)	0.350
RYBP	PIPSL	psi-mi:“MI:0914”(association)	0.350
RYBP	FAM186A	psi-mi:“MI:0914”(association)	0.350
SQSTM1	CHEK1	psi-mi:“MI:0914”(association)	0.350
MYC		psi-mi:“MI:0914”(association)	0.350
CD6	CIBAR1	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
EIF1AD	CHEK1	psi-mi:“MI:0914”(association)	0.350
FBXW7	KMT2D	psi-mi:“MI:0914”(association)	0.350
EZR	EEF2K	psi-mi:“MI:2364”(proximity)	0.270
EGFR	FAM171A2	psi-mi:“MI:2364”(proximity)	0.270
EPHA4	FAM171A2	psi-mi:“MI:2364”(proximity)	0.270
EPHA7	PIK3R2	psi-mi:“MI:2364”(proximity)	0.270
EPHB2	ARHGAP32	psi-mi:“MI:2364”(proximity)	0.270
FGFR1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
FGFR4	SH3PXD2B	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (96): DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-RNA), DIP2B (Affinity Capture-RNA), DIP2B (Affinity Capture-MS), DIP2B (Affinity Capture-MS), DIP2B (Proximity Label-MS), DIP2B (Proximity Label-MS), DIP2B (Affinity Capture-RNA)

ESM2 similar proteins: A0JML8, A0JP70, A2BID5, A2CEI4, A6NNW6, A9JTS5, E7FAW3, F1QNV4, O75153, O75800, O95248, P0CI65, P56192, P97874, Q08CY4, Q0VC30, Q14689, Q17QN2, Q1LWH4, Q1LXZ7, Q29S07, Q2T9L8, Q32PH0, Q3B7U4, Q3U308, Q3UAW9, Q3UH60, Q3UY23, Q4R4F1, Q641Y9, Q68FL6, Q6DG91, Q6GPP1, Q6PJN8, Q6TEN6, Q6ZNJ1, Q6ZPE2, Q6ZQA0, Q7T006, Q8BWT5

Diamond homologs: Q14689, Q3UH60, Q6NVJ5, Q8BWT5, Q9P265, Q9W0S9, Q9Y2E4, Q69ZN6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of translation	5	16.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	2
Uncertain significance	207
Likely benign	25
Benign	14

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
970	fragile site, folic acid type, rare, fra(12)(q13.1)	Pathogenic
3064489	NM_173602.3(DIP2B):c.4044-23_4044-15del	Likely pathogenic
4277900	NM_173602.3(DIP2B):c.4354G>A (p.Glu1452Lys)	Likely pathogenic

SpliceAI

6813 predictions. Top by Δscore:

Variant	Effect	Δscore
12:50505236:GGAGG:G	donor_gain	1.0000
12:50505237:GAGG:G	donor_gain	1.0000
12:50505237:GAGGG:G	donor_gain	1.0000
12:50505239:GG:G	donor_gain	1.0000
12:50505240:GG:G	donor_gain	1.0000
12:50625974:AG:A	acceptor_gain	1.0000
12:50625975:GG:G	acceptor_gain	1.0000
12:50640722:A:AG	acceptor_gain	1.0000
12:50640723:G:A	acceptor_loss	1.0000
12:50640723:G:GG	acceptor_gain	1.0000
12:50640723:GA:G	acceptor_gain	1.0000
12:50640723:GAA:G	acceptor_gain	1.0000
12:50640723:GAAA:G	acceptor_gain	1.0000
12:50640723:GAAAC:G	acceptor_gain	1.0000
12:50640848:ATCAG:A	donor_loss	1.0000
12:50640849:TCAGG:T	donor_loss	1.0000
12:50640851:AGGT:A	donor_loss	1.0000
12:50640852:GGTG:G	donor_loss	1.0000
12:50640853:GTGAG:G	donor_loss	1.0000
12:50640854:T:A	donor_loss	1.0000
12:50640899:T:TA	donor_gain	1.0000
12:50640900:A:AA	donor_gain	1.0000
12:50659776:T:G	donor_gain	1.0000
12:50660190:TCAG:T	acceptor_loss	1.0000
12:50660192:A:AG	acceptor_gain	1.0000
12:50660192:AGAT:A	acceptor_loss	1.0000
12:50660193:G:GG	acceptor_gain	1.0000
12:50660193:GAT:G	acceptor_gain	1.0000
12:50660320:G:GC	donor_loss	1.0000
12:50660320:G:GG	donor_gain	1.0000

AlphaMissense

10158 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:50505220:T:C	L27P	1.000
12:50675362:T:A	I277N	1.000
12:50675362:T:C	I277T	1.000
12:50675362:T:G	I277S	1.000
12:50675371:T:C	L280P	1.000
12:50675383:T:C	L284P	1.000
12:50683142:C:A	A404D	1.000
12:50683197:C:G	C422W	1.000
12:50686575:T:A	W482R	1.000
12:50686575:T:C	W482R	1.000
12:50686590:T:A	W487R	1.000
12:50686590:T:C	W487R	1.000
12:50695333:T:A	W596R	1.000
12:50695333:T:C	W596R	1.000
12:50695883:T:A	W617R	1.000
12:50695883:T:C	W617R	1.000
12:50695967:T:A	W645R	1.000
12:50695967:T:C	W645R	1.000
12:50698449:G:A	G724R	1.000
12:50698449:G:C	G724R	1.000
12:50698449:G:T	G724W	1.000
12:50698450:G:A	G724E	1.000
12:50704206:G:A	G798R	1.000
12:50704206:G:C	G798R	1.000
12:50704206:G:T	G798W	1.000
12:50704207:G:A	G798E	1.000
12:50708498:T:A	V862D	1.000
12:50708542:T:A	W877R	1.000
12:50708542:T:C	W877R	1.000
12:50714438:T:C	L898P	1.000

dbSNP variants (sampled 300 via entrez): RS1000016591 (12:50609165 G>A), RS1000030932 (12:50743036 A>G), RS1000031165 (12:50730561 T>G), RS1000036055 (12:50522045 G>T), RS1000049953 (12:50564813 A>G,T), RS1000059558 (12:50528535 G>A), RS1000061805 (12:50599611 G>A), RS1000071634 (12:50742604 T>C), RS1000074769 (12:50615716 A>G), RS1000088621 (12:50738240 T>C), RS1000096404 (12:50555253 TTCTTA>T), RS1000101363 (12:50729115 A>G), RS1000125683 (12:50603466 C>T), RS1000126000 (12:50678058 A>G), RS1000128153 (12:50648953 A>C,G)

Disease associations

OMIM: gene MIM:611379 | disease phenotypes: MIM:136630

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, FRA12A type	Limited	Autosomal dominant

Mondo (2): intellectual disability, FRA12A type (MONDO:0007634), autism spectrum disorder (MONDO:0005258)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

9 total (9 of 9 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000708	Atypical behavior
HP:0000962	Hyperkeratosis
HP:0001019	Erythroderma
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0002783	Recurrent lower respiratory tract infections
HP:0003593	Infantile onset

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000843_4	Colorectal cancer	2.000000e-10
GCST002147_6	Fibrinogen	3.000000e-08
GCST002411_2	Colorectal cancer	3.000000e-08
GCST002919_13	Colorectal cancer	4.000000e-08
GCST003194_3	Fibrinogen levels	9.000000e-12
GCST003983_33	Male-pattern baldness	2.000000e-09
GCST004121_3	Fibrinogen levels	5.000000e-12
GCST004122_23	Fibrinogen levels	3.000000e-11
GCST004603_106	Platelet count	8.000000e-12
GCST004607_45	Plateletcrit	4.000000e-14
GCST004621_30	Red cell distribution width	2.000000e-11
GCST006612_97	LDL cholesterol	3.000000e-12
GCST006804_74	Red cell distribution width	2.000000e-11
GCST007094_59	Diastolic blood pressure	1.000000e-08
GCST007099_219	Systolic blood pressure	4.000000e-08
GCST007293_76	Body fat distribution (arm fat ratio)	4.000000e-07
GCST007294_123	Body fat distribution (trunk fat ratio)	2.000000e-09
GCST007294_2	Body fat distribution (trunk fat ratio)	1.000000e-18
GCST007295_152	Body fat distribution (leg fat ratio)	4.000000e-13
GCST007856_42	Colorectal cancer or advanced adenoma	2.000000e-23
GCST010703_176	Brain morphology (MOSTest)	5.000000e-11
GCST90002397_201	Mean spheric corpuscular volume	3.000000e-09
GCST90002400_87	Plateletcrit	3.000000e-36
GCST90002402_377	Platelet count	4.000000e-23
GCST90002404_134	Red cell distribution width	2.000000e-29
GCST90020028_979	Hip circumference adjusted for BMI	3.000000e-12
GCST90025872_12	Chronic widespread musculoskeletal pain	2.000000e-07

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count
EFO:0007985	platelet crit
EFO:0009188	Red cell distribution width
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0006336	diastolic blood pressure
EFO:0006335	systolic blood pressure
EFO:0004341	body fat distribution
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0010099	chronic widespread pain

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566980	Mental Retardation, Fra12a Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression	3
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, increases methylation	1
dicrotophos	increases expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
coumarin	affects phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	increases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	affects phosphorylation	1
Dimethyl Sulfoxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder