DIP2A

Summary

DIP2A (DIP2 acetate–CoA ligase A, HGNC:17217) is a protein-coding gene on chromosome 21q22.3, encoding Disco-interacting protein 2 homolog A (Q14689). Catalyzes the de novo synthesis of acetyl-CoA in vitro.

The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 23181 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
• GWAS associations: 9
• Clinical variants (ClinVar): 308 total — 2 likely-pathogenic
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_015151

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17217
Approved symbol	DIP2A
Name	DIP2 acetate–CoA ligase A
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	Dip2, KIAA0184
Ensembl gene	ENSG00000160305
Ensembl biotype	protein_coding
OMIM	607711
Entrez	23181

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 14 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000400274, ENST00000417564, ENST00000435722, ENST00000457905, ENST00000466639, ENST00000472364, ENST00000473752, ENST00000478105, ENST00000479654, ENST00000480553, ENST00000481883, ENST00000494435, ENST00000651436, ENST00000850580, ENST00000874257, ENST00000931212, ENST00000931213, ENST00000960783, ENST00000960784, ENST00000960785, ENST00000960786, ENST00000960787

RefSeq mRNA: 10 — MANE Select: NM_015151 NM_001146115, NM_001146116, NM_001353942, NM_001353943, NM_001353944, NM_001410751, NM_015151, NM_206889, NM_206890, NM_206891

CCDS: CCDS46655, CCDS46656, CCDS46657, CCDS54490, CCDS54491, CCDS93110

Canonical transcript exons

ENST00000417564 — 38 exons

Exon	Start	End
ENSE00002096758	46458891	46459222
ENSE00002109859	46567370	46570015
ENSE00002218277	46498582	46498833
ENSE00002276427	46504361	46504489
ENSE00002319629	46496988	46497107
ENSE00002324363	46490600	46490719
ENSE00002347315	46484757	46484828
ENSE00002444500	46549771	46549885
ENSE00002444706	46558223	46558393
ENSE00002476417	46551634	46551743
ENSE00002499829	46550543	46550744
ENSE00002499891	46561748	46561805
ENSE00002513022	46551824	46551904
ENSE00002517274	46560722	46560783
ENSE00002533498	46554169	46554292
ENSE00002685752	46546915	46547042
ENSE00003466019	46537224	46537288
ENSE00003471299	46509257	46509376
ENSE00003474907	46541756	46541895
ENSE00003480214	46511417	46511614
ENSE00003494381	46533524	46533647
ENSE00003495758	46555982	46556091
ENSE00003514252	46565713	46565887
ENSE00003516999	46566560	46566683
ENSE00003533110	46534585	46534687
ENSE00003535268	46539877	46539991
ENSE00003545429	46557585	46557753
ENSE00003546483	46538483	46538602
ENSE00003546587	46529092	46529183
ENSE00003559256	46556939	46557069
ENSE00003560718	46563858	46563932
ENSE00003562990	46545881	46545961
ENSE00003590044	46554822	46554933
ENSE00003623916	46537446	46537539
ENSE00003641160	46545137	46545273
ENSE00003662615	46554575	46554696
ENSE00003672705	46534004	46534113
ENSE00003683586	46532127	46532237

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 98.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1117 / max 2112.2230, expressed in 1815 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189721	25.0113	1815
189722	0.0698	24
189724	0.0306	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
visceral pleura	UBERON:0002401	98.98	gold quality
blood vessel layer	UBERON:0004797	98.49	gold quality
parietal pleura	UBERON:0002400	98.47	gold quality
cervix squamous epithelium	UBERON:0006922	98.26	silver quality
tibia	UBERON:0000979	98.25	gold quality
cardia of stomach	UBERON:0001162	98.22	gold quality
pleura	UBERON:0000977	97.92	gold quality
ventral tegmental area	UBERON:0002691	97.86	gold quality
renal medulla	UBERON:0000362	97.81	gold quality
inferior vagus X ganglion	UBERON:0005363	97.64	gold quality
nipple	UBERON:0002030	97.60	gold quality
sperm	CL:0000019	97.58	gold quality
endothelial cell	CL:0000115	97.54	gold quality
pylorus	UBERON:0001166	97.53	gold quality
subthalamic nucleus	UBERON:0001906	97.51	gold quality
lateral globus pallidus	UBERON:0002476	97.51	gold quality
trabecular bone tissue	UBERON:0002483	97.50	gold quality
male germ cell	CL:0000015	97.44	gold quality
superior surface of tongue	UBERON:0007371	97.38	gold quality
medulla oblongata	UBERON:0001896	97.29	gold quality
superior vestibular nucleus	UBERON:0007227	97.28	gold quality
trachea	UBERON:0003126	97.25	gold quality
dorsal plus ventral thalamus	UBERON:0001897	97.23	gold quality
trigeminal ganglion	UBERON:0001675	97.15	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.93	gold quality
dorsal root ganglion	UBERON:0000044	96.89	gold quality
substantia nigra pars compacta	UBERON:0001965	96.83	gold quality
buccal mucosa cell	CL:0002336	96.82	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.79	gold quality
vena cava	UBERON:0004087	96.78	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting DIP2A, 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-3163	100.00	77.23	8605
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-6845-3P	99.94	66.88	1439

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 6)

• These data indicate that DIP2A functions as a novel receptor that mediates the cardiovascular protective effects of FSTL1. (PMID:20054002)
• DIP2A could be a cell-surface receptor protein and mediate a FOS down-regulation signal of FRP. FRP bound to DIP2A and CD14, and also with proteins of the TGF-beta superfamily (PMID:20860622)
• a genetic variant in the DIP2A gene was associated with increased developmental dyslexia risk in China. (PMID:26452339)
• Expression of DIP2A (the receptor of FSTL1) in tumor cells is critical for FSTL1-induced neoplastic immune resistance; FSTL1/DIP2A co-positivity in non-small-cell lung tumor (NSCLC) tissues correlates with poor prognosis in NSCLC patients. (PMID:30110636)
• An important role of Fstl1 in the regulation of temozolomide resistance by modulation of DIP2A/MGMT signaling. (PMID:30542120)
• Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders. (PMID:37897975)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dip2a	ENSDARG00000078058
mus_musculus	Dip2a	ENSMUSG00000020231
rattus_norvegicus	Dip2a	ENSRNOG00000043212
drosophila_melanogaster	DIP2	FBGN0024806
caenorhabditis_elegans	dip-2	WBGENE00017885

Paralogs (2): DIP2B (ENSG00000066084), DIP2C (ENSG00000151240)

Protein

Protein identifiers

Disco-interacting protein 2 homolog A — Q14689 (reviewed: Q14689)

All UniProt accessions (2): Q14689, A0A494C143

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the de novo synthesis of acetyl-CoA in vitro. Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission. Binds to follistatin-related protein FSTL1 and may act as a cell surface receptor for FSTL1, contributing to AKT activation and subsequent FSTL1-induced survival and function of endothelial cells and cardiac myocytes.

Subunit / interactions. Interacts with FSTL1; DIP2A may act as a cell surface receptor for FSTL1. Interacts (via N-terminus) with CTTN (via SH3 domain); the interaction promotes acetylation of CTTN and is required for proper synaptic transmission. Interacts with SHANK3.

Subcellular location. Cell membrane. Mitochondrion. Cell projection. Dendritic spine.

Tissue specificity. Low expression in all tissues tested.

Similarity. Belongs to the DIP2 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q14689-1	1	yes
Q14689-2	2
Q14689-3	3
Q14689-4	4
Q14689-5	5
Q14689-6	6

RefSeq proteins (10): NP_001139587, NP_001139588, NP_001340871, NP_001340872, NP_001340873, NP_001397680, NP_055966, NP_996772, NP_996773, NP_996774 (=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

Catalyzed reactions (Rhea), 1 shown:

• acetate + ATP + CoA = acetyl-CoA + AMP + diphosphate (RHEA:23176)

UniProt features (25 total): splice variant 8, compositionally biased region 4, modified residue 3, region of interest 2, sequence variant 2, sequence conflict 2, short sequence motif 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14689-F1	78.93	0.48

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 (3): 94, 132, 155

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 201 (showing top): GOBP_DENDRITE_DEVELOPMENT, TGCACTT_MIR519C_MIR519B_MIR519A, GOZGIT_ESR1_TARGETS_DN, GOBP_DENDRITIC_SPINE_DEVELOPMENT, GOCC_CELL_SURFACE, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, GOBP_NEUROGENESIS, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS

GO Biological Process (5): acetyl-CoA biosynthetic process (GO:0006085), negative regulation of gene expression (GO:0010629), dendritic spine morphogenesis (GO:0060997), positive regulation of peptidyl-lysine acetylation (GO:2000758), nervous system development (GO:0007399)

GO Molecular Function (3): acetyl-CoA synthetase activity (GO:0003987), protein binding (GO:0005515), ligase activity (GO:0016874)

GO Cellular Component (8): mitochondrion (GO:0005739), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), dendritic spine (GO:0043197), cell projection (GO:0042995), neuron projection (GO:0043005), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
acetyl-CoA metabolic process	1
acyl-CoA biosynthetic process	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
neuron projection development	1
neuron projection morphogenesis	1
dendrite morphogenesis	1
dendritic spine development	1
dendritic spine organization	1
peptidyl-lysine acetylation	1
positive regulation of protein acetylation	1
regulation of peptidyl-lysine acetylation	1
system development	1
CoA-ligase activity	1
binding	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
dendrite	1
neuron spine	1
postsynapse	1
plasma membrane bounded cell projection	1
cell junction	1

Protein interactions and networks

STRING

3052 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DIP2A	FSTL1	Q12841	816
DIP2A	DMAP1	Q9NPF5	615
DIP2A	RHBDF2	Q6PJF5	589
DIP2A	PRMT2	P55345	585
DIP2A	KIAA0319L	Q8IZA0	515
DIP2A	DNAAF4	Q8WXU2	496
DIP2A	SERPINF2	P08697	487
DIP2A	FST	P19883	479
DIP2A	PCNT	O95613	453
DIP2A	KIAA0319	Q5VV43	453
DIP2A	CDH23	Q9H251	449
DIP2A	YBEY	P58557	447
DIP2A	DCDC2	Q9UHG0	441
DIP2A	RNF207	Q6ZRF8	422
DIP2A	AKT1	P31749	420

IntAct

78 interactions, top by confidence:

A	B	Type	Score
DIP2A	FSTL1	psi-mi:“MI:0915”(physical association)	0.630
FSTL1	DIP2A	psi-mi:“MI:0915”(physical association)	0.630
FSTL1	DIP2A	psi-mi:“MI:0407”(direct interaction)	0.630
DIP2A	TRIP13	psi-mi:“MI:0915”(physical association)	0.560
DIP2A	CEP44	psi-mi:“MI:0915”(physical association)	0.560
DIP2A	ATOSB	psi-mi:“MI:0915”(physical association)	0.560
DIP2A	GPATCH2L	psi-mi:“MI:0915”(physical association)	0.560
CEP44	DIP2A	psi-mi:“MI:0915”(physical association)	0.560
GPATCH2L	DIP2A	psi-mi:“MI:0915”(physical association)	0.560
FST	DIP2A	psi-mi:“MI:0407”(direct interaction)	0.540
DIP2A	FST	psi-mi:“MI:0915”(physical association)	0.540
MANSC1	KLRG2	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
HAVCR2	TCAF2	psi-mi:“MI:0914”(association)	0.530
DLK1	TCAF2	psi-mi:“MI:0914”(association)	0.530
PDCD1	RTL8C	psi-mi:“MI:0914”(association)	0.530
EFNB2	FAM171A2	psi-mi:“MI:0914”(association)	0.530
IL20RA	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
TPCN2	AP3B1	psi-mi:“MI:0914”(association)	0.530
PTGER3	PIK3R2	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
LPCAT1	SLC27A2	psi-mi:“MI:0914”(association)	0.530
TEX264	PER1	psi-mi:“MI:0914”(association)	0.530

BioGRID (132): DIP2A (Two-hybrid), DIP2A (Two-hybrid), DIP2A (Two-hybrid), DIP2A (Two-hybrid), DIP2A (Two-hybrid), DIP2A (Two-hybrid), DIP2A (Two-hybrid), MBIP (Two-hybrid), ADAMTSL4 (Two-hybrid), GPATCH2L (Two-hybrid), TRIM39 (Two-hybrid), CCDC33 (Two-hybrid), FAM214B (Two-hybrid), CEP44 (Two-hybrid), STAC3 (Two-hybrid)

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

6 interactions.

A	Effect	B	Mechanism
FSTL1	“up-regulates activity”	DIP2A	binding
DIP2A	“up-regulates activity”	CTTN	acetylation
DIP2A	“up-regulates activity”	SOD1	binding
DIP2A	“up-regulates activity”	SOD2	binding
DIP2A	“up-regulates activity”	ABL2	binding
DIP2A	“up-regulates quantity”	acetyl-CoA	“chemical modification”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 97 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
positive regulation of cell migration	9	6.8×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	228
Likely benign	28
Benign	15

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2429948	NM_015151.4(DIP2A):c.1429+2T>G	Likely pathogenic
3897609	NM_015151.4(DIP2A):c.2174dup (p.Ala726fs)	Likely pathogenic

SpliceAI

6913 predictions. Top by Δscore:

Variant	Effect	Δscore
21:46459220:AAGG:A	donor_loss	1.0000
21:46459221:AGGT:A	donor_loss	1.0000
21:46459222:GGT:G	donor_loss	1.0000
21:46459223:G:C	donor_loss	1.0000
21:46496984:GTA:G	acceptor_loss	1.0000
21:46496986:A:AG	acceptor_gain	1.0000
21:46496986:A:C	acceptor_loss	1.0000
21:46496987:G:GC	acceptor_gain	1.0000
21:46496987:GA:G	acceptor_gain	1.0000
21:46496987:GAT:G	acceptor_gain	1.0000
21:46497103:TCCAG:T	donor_loss	1.0000
21:46497104:CCAGG:C	donor_loss	1.0000
21:46497105:CAG:C	donor_loss	1.0000
21:46497106:AGGT:A	donor_loss	1.0000
21:46497107:GG:G	donor_loss	1.0000
21:46497108:G:GC	donor_loss	1.0000
21:46497109:T:A	donor_loss	1.0000
21:46504353:A:AG	acceptor_gain	1.0000
21:46504486:GATG:G	donor_gain	1.0000
21:46509251:T:TA	acceptor_gain	1.0000
21:46509252:GACAG:G	acceptor_loss	1.0000
21:46509253:ACAGG:A	acceptor_loss	1.0000
21:46509256:GGT:G	acceptor_gain	1.0000
21:46509372:GGAAG:G	donor_gain	1.0000
21:46509373:GAAG:G	donor_gain	1.0000
21:46509373:GAAGG:G	donor_gain	1.0000
21:46509374:AAGG:A	donor_loss	1.0000
21:46509376:GGTAA:G	donor_loss	1.0000
21:46509377:G:A	donor_loss	1.0000
21:46509377:G:GG	donor_gain	1.0000

AlphaMissense

10082 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:46509290:T:C	I273T	1.000
21:46509299:T:C	L276P	1.000
21:46537512:T:A	W592R	1.000
21:46537512:T:C	W592R	1.000
21:46547006:T:C	L829P	1.000
21:46549865:T:A	W873R	1.000
21:46549865:T:C	W873R	1.000
21:46567393:T:C	L1496P	1.000
21:46567564:T:C	L1553P	1.000
21:46567576:T:C	F1557S	1.000
21:46567606:T:A	V1567D	1.000
21:46459202:T:C	L24P	0.999
21:46459214:T:C	L28P	0.999
21:46509287:A:T	K272I	0.999
21:46509290:T:A	I273N	0.999
21:46509290:T:G	I273S	0.999
21:46509311:T:C	L280P	0.999
21:46532209:T:A	V426D	0.999
21:46534006:T:A	W478R	0.999
21:46534006:T:C	W478R	0.999
21:46538518:T:A	W613R	0.999
21:46538518:T:C	W613R	0.999
21:46538520:G:C	W613C	0.999
21:46538520:G:T	W613C	0.999
21:46538602:T:A	W641R	0.999
21:46538602:T:C	W641R	0.999
21:46546997:C:A	A826D	0.999
21:46547008:G:C	A830P	0.999
21:46547030:T:A	V837D	0.999
21:46549809:G:C	R854P	0.999

dbSNP variants (sampled 300 via entrez): RS1000020843 (21:46562261 G>A), RS1000036356 (21:46565612 G>A,C,T), RS1000046593 (21:46489483 TG>T), RS1000047024 (21:46562282 G>T), RS1000061593 (21:46581546 C>T), RS1000064049 (21:46543599 G>A), RS1000078933 (21:46538064 T>C), RS1000093023 (21:46517465 T>G), RS1000100569 (21:46496150 C>T), RS1000166906 (21:46527128 A>G), RS1000194714 (21:46520113 A>T), RS1000198088 (21:46577742 A>G), RS1000260481 (21:46457616 G>A,C), RS1000292317 (21:46520386 C>T), RS1000293767 (21:46480038 G>A)

Disease associations

OMIM: gene MIM:607711 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant

Mondo (2): long QT syndrome (MONDO:0002442), autism spectrum disorder (MONDO:0005258)

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

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004627_111	Lymphocyte count	9.000000e-10
GCST005025_22	Anti-saccade response	3.000000e-06
GCST006629_26	Pulse pressure	2.000000e-11
GCST90002388_594	Lymphocyte count	4.000000e-16
GCST90002392_128	Mean corpuscular volume	2.000000e-09
GCST90002396_79	Mean reticulocyte volume	3.000000e-10
GCST90002397_591	Mean spheric corpuscular volume	7.000000e-13
GCST90002398_67	Neutrophil count	1.000000e-11
GCST90002407_182	White blood cell count	5.000000e-16

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0006874	antisaccade response measurement
EFO:0005763	pulse pressure measurement
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
dicrotophos	increases expression	1
geldanamycin	increases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Irinotecan	decreases expression	1
Fulvestrant	decreases methylation	1
Vehicle Emissions	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Lead	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Tretinoin	increases expression	1
Vincristine	increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

366 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
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
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