AMPD2

Summary

AMPD2 (adenosine monophosphate deaminase 2, HGNC:469) is a protein-coding gene on chromosome 1p13.3, encoding AMP deaminase 2 (Q01433). AMP deaminase plays a critical role in energy metabolism.

The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 271 — RefSeq curated summary.

At a glance

• Gene–disease (curated): pontocerebellar hypoplasia type 9 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 570 total — 23 pathogenic, 22 likely-pathogenic (top 6% of genes corpus-wide)
• Regional missense constraint (gnomAD): 1 of 5 regions constrained (≈3% of expected missense variation)
• GTEx eGene: eQTL in 13 tissues, sQTL in 24 (q < 0.05)
• Phenotypes (HPO): 47
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.70 (unconstrained)
• MANE Select transcript: NM_001368809

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:469
Approved symbol	AMPD2
Name	adenosine monophosphate deaminase 2
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	SPG63
Ensembl gene	ENSG00000116337
Ensembl biotype	protein_coding
OMIM	102771
Entrez	271

Gene structure

Transcript identifiers

Ensembl transcripts: 58 — 24 nonsense_mediated_decay, 16 retained_intron, 12 protein_coding, 6 protein_coding_CDS_not_defined

MANE Select: ENST00000528667

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 2: 4, TSL 3: 5, TSL 4: 10, TSL 5: 3

ENST00000528667, ENST00000256578, ENST00000342115, ENST00000358729, ENST00000369840, ENST00000459643, ENST00000467071, ENST00000469039, ENST00000474459, ENST00000476688, ENST00000479919, ENST00000486282, ENST00000524975, ENST00000525415, ENST00000526301, ENST00000527846, ENST00000528270, ENST00000528454, ENST00000528958, ENST00000529299, ENST00000531203, ENST00000531734, ENST00000532851, ENST00000533132, ENST00000534144, ENST00000652975, ENST00000654851, ENST00000655992, ENST00000659122, ENST00000663749, ENST00000667949, ENST00000668421, ENST00000673915, ENST00000679379, ENST00000679593, ENST00000679880, ENST00000679892, ENST00000679981, ENST00000680132, ENST00000680148, ENST00000680170, ENST00000680192, ENST00000680519, ENST00000680531, ENST00000680820, ENST00000680832, ENST00000680929, ENST00000681108, ENST00000681121, ENST00000681132, ENST00000681181, ENST00000681218, ENST00000681246, ENST00000681496, ENST00000681834, ENST00000681862, ENST00000906732, ENST00001144763

RefSeq mRNA: 5 — MANE Select: NM_001368809 NM_001257361, NM_001308170, NM_001368809, NM_004037, NM_139156

CCDS: CCDS58016, CCDS804, CCDS805

Canonical transcript exons

ENST00000528667 — 19 exons

Exon	Start	End
ENSE00000913099	109629796	109629916
ENSE00001881763	109630943	109632051
ENSE00001900591	109619837	109620278
ENSE00001946054	109620914	109621266
ENSE00003459529	109627429	109627518
ENSE00003470581	109630233	109630406
ENSE00003514555	109628364	109628495
ENSE00003532630	109628643	109628806
ENSE00003552314	109626726	109626912
ENSE00003560412	109626160	109626228
ENSE00003569676	109629109	109629235
ENSE00003569771	109626319	109626427
ENSE00003572883	109627175	109627316
ENSE00003573762	109630683	109630793
ENSE00003579746	109629327	109629490
ENSE00003606938	109625662	109625792
ENSE00003632436	109625303	109625433
ENSE00003649890	109628083	109628277
ENSE00003650525	109627774	109627903

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 98.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2783 / max 3051.3364, expressed in 1811 samples.

Highest expression (Bgee): adenohypophysis, pituitary gland, granulocyte, nucleus accumbens, pancreatic ductal cell.

Genetic regulation across tissues (GTEx eQTL / sQTL)

AMPD2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 24 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 37 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	sqtl	1.0e-28	-0.30	1:109629740:C:T
Lung	sqtl	1.9e-15	-0.36	1:109629740:C:T
Artery Tibial	sqtl	1.6e-12	-0.43	1:109629740:C:T
Artery Aorta	sqtl	8.6e-11	-0.43	1:109629740:C:T
Breast Mammary Tissue	sqtl	1.1e-10	-0.47	1:109629740:C:T
Skin Sun Exposed Lower leg	sqtl	6.1e-10	-0.36	1:109629740:C:T
Esophagus Gastroesophageal Junction	sqtl	3.9e-08	-0.46	1:109629740:C:T
Adipose Visceral Omentum	sqtl	4.5e-08	-0.31	1:109629740:C:T
Skin Not Sun Exposed Suprapubic	sqtl	1.7e-07	-0.34	1:109629740:C:T
Esophagus Muscularis	sqtl	1.8e-07	-0.39	1:109639007:T:C
Nerve Tibial	sqtl	3.0e-07	-0.34	1:109629740:C:T
Adipose Subcutaneous	sqtl	8.1e-07	-0.34	1:109629740:C:T
Brain Cerebellum	sqtl	2.7e-06	-0.55	1:109629740:C:T
Skin Sun Exposed Lower leg	eqtl	2.5e-05	-0.13	1:109627335:A:G
Testis	eqtl	3.1e-05	-0.16	1:109650086:AT:A
Pituitary	sqtl	3.2e-05	+0.58	1:109628274:T:C
Cells Cultured fibroblasts	sqtl	5.3e-05	-0.34	1:109629740:C:T
Colon Transverse	sqtl	6.9e-05	-0.30	1:109629740:C:T
Brain Cerebellum	eqtl	1.7e-04	-0.37	1:109622341:C:T
Ovary	sqtl	1.9e-04	+2.08	1:109629970:C:A

FANTOM5 promoters

showing 10 of 11 alternative TSS:

Promoter ID	TPM avg	Samples expressed
4428	18.9748	1802
4433	7.0337	1345
4429	0.9344	372
4430	0.8954	510
4435	0.4764	167
4432	0.3520	112
4426	0.1580	17
4425	0.1417	28
4431	0.1230	54
4434	0.1189	66

Top tissues by expression

showing 100 of 288 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	98.72	gold quality
pituitary gland	UBERON:0000007	98.55	gold quality
granulocyte	CL:0000094	97.96	gold quality
nucleus accumbens	UBERON:0001882	97.30	gold quality
pancreatic ductal cell	CL:0002079	96.86	gold quality
stromal cell of endometrium	CL:0002255	96.52	gold quality
right frontal lobe	UBERON:0002810	96.51	gold quality
monocyte	CL:0000576	96.34	gold quality
putamen	UBERON:0001874	96.31	gold quality
caudate nucleus	UBERON:0001873	96.27	gold quality
mononuclear cell	CL:0000842	96.17	gold quality
leukocyte	CL:0000738	96.15	gold quality
blood	UBERON:0000178	96.08	gold quality
spleen	UBERON:0002106	96.06	gold quality
metanephros cortex	UBERON:0010533	95.90	gold quality
prefrontal cortex	UBERON:0000451	95.61	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.48	gold quality
endothelial cell	CL:0000115	95.42	gold quality
cingulate cortex	UBERON:0003027	95.36	gold quality
right ovary	UBERON:0002118	95.31	gold quality
anterior cingulate cortex	UBERON:0009835	95.31	gold quality
left uterine tube	UBERON:0001303	95.28	gold quality
right lung	UBERON:0002167	95.24	gold quality
right lobe of liver	UBERON:0001114	95.18	gold quality
gall bladder	UBERON:0002110	95.00	gold quality
right adrenal gland	UBERON:0001233	94.98	gold quality
right adrenal gland cortex	UBERON:0035827	94.88	gold quality
left adrenal gland cortex	UBERON:0035825	94.87	gold quality
left ovary	UBERON:0002119	94.84	gold quality
amygdala	UBERON:0001876	94.78	gold quality
ascending aorta	UBERON:0001496	94.61	gold quality
cerebellar hemisphere	UBERON:0002245	94.59	gold quality
left adrenal gland	UBERON:0001234	94.55	gold quality
thoracic aorta	UBERON:0001515	94.50	gold quality
cerebellar cortex	UBERON:0002129	94.50	gold quality
adrenal cortex	UBERON:0001235	94.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.35	gold quality
right coronary artery	UBERON:0001625	94.30	gold quality
neocortex	UBERON:0001950	94.30	gold quality
frontal cortex	UBERON:0001870	94.28	gold quality
vermiform appendix	UBERON:0001154	94.23	gold quality
forebrain	UBERON:0001890	94.18	gold quality
upper lobe of left lung	UBERON:0008952	94.18	gold quality
endocervix	UBERON:0000458	94.02	gold quality
telencephalon	UBERON:0001893	93.93	gold quality
descending thoracic aorta	UBERON:0002345	93.88	gold quality
middle frontal gyrus	UBERON:0002702	93.83	gold quality
periodontal ligament	UBERON:0008266	93.83	gold quality
brain	UBERON:0000955	93.74	gold quality
hypothalamus	UBERON:0001898	93.73	gold quality
central nervous system	UBERON:0001017	93.68	gold quality
right uterine tube	UBERON:0001302	93.64	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.57	gold quality
adrenal gland	UBERON:0002369	93.50	gold quality
body of uterus	UBERON:0009853	93.50	gold quality
cerebellum	UBERON:0002037	93.34	gold quality
cerebral cortex	UBERON:0000956	93.30	gold quality
cortical plate	UBERON:0005343	93.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.19	gold quality
Ammon’s horn	UBERON:0001954	93.15	gold quality
upper lobe of lung	UBERON:0008948	93.12	gold quality
left lobe of thyroid gland	UBERON:0001120	93.06	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.00	gold quality
right lobe of thyroid gland	UBERON:0001119	92.99	gold quality
choroid plexus epithelium	UBERON:0003911	92.92	gold quality
mucosa of stomach	UBERON:0001199	92.74	gold quality
ectocervix	UBERON:0012249	92.69	gold quality
left coronary artery	UBERON:0001626	92.63	gold quality
body of stomach	UBERON:0001161	92.59	gold quality
caecum	UBERON:0001153	92.56	gold quality
coronary artery	UBERON:0001621	92.37	gold quality
islet of Langerhans	UBERON:0000006	92.29	gold quality
omental fat pad	UBERON:0010414	92.27	gold quality
peritoneum	UBERON:0002358	92.24	gold quality
temporal lobe	UBERON:0001871	92.14	gold quality
lymph node	UBERON:0000029	92.12	gold quality
spinal cord	UBERON:0002240	92.12	gold quality
body of pancreas	UBERON:0001150	91.95	gold quality
small intestine	UBERON:0002108	91.80	gold quality
primary visual cortex	UBERON:0002436	91.75	gold quality
bone marrow cell	CL:0002092	91.74	gold quality
thyroid gland	UBERON:0002046	91.74	gold quality
ventricular zone	UBERON:0003053	91.66	gold quality
tibial nerve	UBERON:0001323	91.57	gold quality
ovary	UBERON:0000992	91.51	gold quality
aorta	UBERON:0000947	91.50	gold quality
minor salivary gland	UBERON:0001830	91.45	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.35	gold quality
pancreas	UBERON:0001264	91.29	gold quality
substantia nigra	UBERON:0002038	91.19	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.17	gold quality
apex of heart	UBERON:0002098	91.08	gold quality
stomach	UBERON:0000945	91.04	gold quality
vagina	UBERON:0000996	91.02	gold quality
midbrain	UBERON:0001891	91.00	gold quality
prostate gland	UBERON:0002367	91.00	gold quality
occipital lobe	UBERON:0002021	90.96	gold quality
transverse colon	UBERON:0001157	90.95	gold quality
cervix squamous epithelium	UBERON:0006922	90.79	silver quality
right atrium auricular region	UBERON:0006631	90.56	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Pituitary gland	tissue	54.9
Nucleus accumbens	tissue	54.4
Choroid plexus	tissue	47.3
Locus coeruleus	tissue	40.0
Postcentral gyrus	tissue	32.3
Hippocampus	tissue	31.0	not detected
Hippocampal formation	tissue	31.0
Olfactory bulb	tissue	30.3
Cerebral cortex	tissue	29.9	medium
Motor cortex	tissue	29.9
Somatosensory cortex	tissue	29.6
Prefrontal cortex	tissue	29.2
Hypothalamus	tissue	28.3
Insular cortex	tissue	27.8
Caudate putamen	tissue	27.2
Bone marrow	tissue	27.1	not detected
Temporal cortex	tissue	26.9
Entorhinal cortex	tissue	26.6
Superior colliculi	tissue	25.9
Retrosplenial and cingulate cortex	tissue	25.6
Thalamus	tissue	25.4
Pons	tissue	24.7
Amygdala	tissue	23.8
Retrosplenial cortex	tissue	23.6
Frontal cortex	tissue	23.2
Occipital cortex	tissue	23.1
Midbrain	tissue	22.5
Periaqueductal gray	tissue	22.5
Septum	tissue	22.3
Substantia nigra	tissue	21.7
Medulla oblongata	tissue	21.5
Ventral forebrain	tissue	19.3
Spinal cord	tissue	16.8
Adrenal gland	tissue	16.5	low
Basal ganglia	tissue	14.7	high
Putamen	tissue	14.7
Cerebellum	tissue	13.4	high
Corpus callosum	tissue	12.4
Ovary	tissue	11.3	medium
Seminal vesicle	tissue	11.3	not detected
Appendix	tissue	11.3	medium
Vagina	tissue	11.2	low
Liver	tissue	10.6	low
Fallopian tube	tissue	10.2	medium
Duodenum	tissue	10.0	medium
Retina	tissue	9.8
Spleen	tissue	9.8	medium
Parathyroid gland	tissue	8.9	not detected
Gallbladder	tissue	8.3	medium
Small intestine	tissue	8.2	medium
Prostate	tissue	7.6	not detected
Pancreas	tissue	7.2	medium
Lymph node	tissue	7.1	medium
Placenta	tissue	7.1	low
Urinary bladder	tissue	7.0	not detected
Cervix	tissue	6.9	not detected
Endometrium 1	tissue	6.7	medium
Salivary gland	tissue	6.6	low
Smooth muscle	tissue	6.6	not detected
Skin 1	tissue	6.5	not detected

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Caudate nucleus (57.0), Ventromedial nucleus (52.0), Arcuate nucleus (47.7), Hippocampus, CA3 (42.8), Nucleus raphe magnus (42.5).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

Targeting AMPD2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

28 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-5190	99.15	67.76	1234
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-198	98.70	67.32	920
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-3138	98.41	67.53	744
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-3155A	98.16	66.09	965
HSA-MIR-3155B	98.16	66.09	965
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-541-3P	96.07	66.11	1271
HSA-MIR-654-5P	96.07	66.18	1280
HSA-MIR-25-5P	87.02	64.95	84

Functional genomics

gnomAD constraint: pLI 1.39e-08, LOEUF 0.705, missense Z 3.64 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000528667 splits into 5 regions with different missense tolerance; 1 is missense-constrained (≈3% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:109,621,176–109,625,714	105 / 125.0	0.84	no
1:109,625,715–109,625,791	10 / 36.2	0.28	yes (p 1.4e-05)
1:109,625,792–109,627,513	240 / 270.3	0.89	no
1:109,627,514–109,628,139	37 / 84.8	0.44	no
1:109,628,140–109,631,149	430 / 606.0	0.71	no

Literature-anchored findings (GeneRIF, showing 11)

• N-terminal extensions of the AMPD2 polypeptide influence ATP regulation of isoform L. (PMID:12745092)
• Study concluded that AMPD2 as necessary for guanine nucleotide biosynthesis and protein translation and provide evidence that AMP deaminase activity is critical during neurogenesis. Patients with mutations in AMPD2 have characteristic brain imaging features of pontocerebellar hypoplasia due to loss of brainstem and cerebellar parenchyma. (PMID:23911318)
• In human HepG2 cells, AMPD2 activation counterregulates AMPK and increases intracellular glucose production, in association with up-regulation of PEPCK and G6Pc. (PMID:24755741)
• tofacitinib increases the cellular levels of adenosine, which is known to have anti-inflammatory activity, through the downregulation of AMPD2. This would be a novel functional aspect of tofacitinib. (PMID:25496463)
• Here we report the clinical and genetic analysis of an individual with PCH9 secondary to a novel missense variant with strong evidence of pathogenicity, located outside the catalytic domain of AMPD2 (PMID:28168832)
• The existence of various AMPD2 isoforms with different functions possibly explains the variability in phenotypes associated with AMPD2 variants: variants leaving some of the isoforms intact may cause spastic paraplegia type 63 , while those affecting all isoforms may result in the severe and early-onset Pontocerebellar hypoplasia type 9. (PMID:29463858)
• Data suggest that adenosine monophosphate deaminase 2 (AMPD2) may serve as a biomarker for outcome prediction in undifferentiated pleomorphic sarcoma (UPS). (PMID:30267407)
• These data demonstrate a novel mechanism in Systemic lupus erythematosus development that involves the targeting of AMPD2 expression by NovelmiRNA-25. (PMID:30577810)
• Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. (PMID:31833174)
• Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia. (PMID:36445597)
• IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency. (PMID:39075237)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ampd2b	ENSDARG00000029952
danio_rerio	ampd2a	ENSDARG00000104491
mus_musculus	Ampd2	ENSMUSG00000027889
rattus_norvegicus	Ampd2	ENSRNOG00000019240
drosophila_melanogaster	AMPdeam	FBGN0052626
caenorhabditis_elegans		WBGENE00016415

Paralogs (2): AMPD1 (ENSG00000116748), AMPD3 (ENSG00000133805)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:88016) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 17 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased circulating cholesterol level	2
increased circulating LDL cholesterol level	1
decreased hematocrit	1
decreased body weight	1
increased circulating triglyceride level	1
increased circulating HDL cholesterol level	1
increased mean platelet volume	1
abnormal renal tubule morphology	1
increased urine protein level	1
thrombocytosis	1
increased circulating potassium level	1
increased mean corpuscular hemoglobin concentration	1
podocyte foot process effacement	1
increased circulating amylase level	1
increased red blood cell distribution width	1
decreased circulating fructosamine level	1
preweaning lethality, incomplete penetrance	1

Additional cross-species homologs

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

Organism	UniProt	Identity	Method
Arabidopsis thaliana	O80452	70.2%	Diamond
Oryza sativa Japonica Group	Q84NP7	70.1%	Diamond
Saccharomyces cerevisiae S288C	P15274	64.2%	Diamond
Schizosaccharomyces pombe 972h-	P50998	64.2%	Diamond
Dictyostelium discoideum	Q54DD0	61.3%	Diamond
Pelodictyon luteolum DSM 273	Q3B2Q0	60.7%	Diamond

Genomic neighbors (locus context)

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

Symbol	Type	Entrez
GNAT2	protein-coding	2780
GSTM4	protein-coding	2948
GNAI3	protein-coding	2773
MIR197	ncRNA	406974
GSTM1	protein-coding	2944
GSTM2	protein-coding	2946
GPR61	protein-coding	83873

Protein

Protein identifiers

AMP deaminase 2 — Q01433 (reviewed: Q01433)

Alternative names: AMP deaminase isoform L

All UniProt accessions (15): A0A590UJD1, A0A590UJX5, A0A590UJY6, A0A590UK85, A0A7P0T999, A0A7P0TB79, A0A7P0Z4H6, A0A804CCZ3, A0A804H2H4, E9PIJ1, E9PJF6, Q01433, H0Y360, H0YE32, H0YF16

UniProt curated annotations — full annotation on UniProt →

Function. AMP deaminase plays a critical role in energy metabolism. Catalyzes the deamination of AMP to IMP and plays an important role in the purine nucleotide cycle.

Subunit / interactions. Homotetramer.

Tissue specificity. Highly expressed in cerebellum.

Disease relevance. Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination. The disease is caused by variants affecting the gene represented in this entry. Spastic paraplegia 63, autosomal recessive (SPG63) [MIM:615686] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 zinc ion per subunit.

Pathway. Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.

Similarity. Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q01433-1	Ex1B-2-3	yes
Q01433-2	Ex1A-2-3
Q01433-4	Ex1B-3
Q01433-5	5

RefSeq proteins (5): NP_001244290, NP_001295099, NP_001355738, NP_004028, NP_631895 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006329	AMPD	Family
IPR006650	A/AMP_deam_AS	Active_site
IPR032466	Metal_Hydrolase	Homologous_superfamily

Pfam: PF19326

Enzyme classification (BRENDA)

• EC 3.5.4.6 — AMP deaminase (BRENDA: 31 organisms, 17 substrates, 106 inhibitors, 29 Km, 1 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
AMP	0.025–13	20

Catalyzed reactions (Rhea)

• AMP + H2O + H(+) = IMP + NH4(+) (RHEA:14777)

UniProt features (97 total): helix 42, strand 17, modified residue 11, binding site 8, turn 5, splice variant 4, sequence variant 4, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1, active site 1

Structure

Experimental structures (PDB)

5 structures by resolution:

PDB	Title	Method	Resolution (Å)
4NO3	Crystal structure of AMPD2 phosphopeptide bound to HLA-A2	X-RAY DIFFRACTION	1.7
4NO5	Crystal structure of non-phosphorylated form of AMPD2 phosphopeptide bound to HLA-A2	X-RAY DIFFRACTION	2.1
8HU6	AMP deaminase 2 in complex with AMP	X-RAY DIFFRACTION	2.33
26XC	Identification of AMPD2 Allosteric Inhibitors with Novel Mechanism of Action by Fragment …	X-RAY DIFFRACTION	2.5
8HUB	AMP deaminase 2 in complex with an inhibitor	X-RAY DIFFRACTION	3.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01433-F1	81.28	0.59

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Metabolic proteins, Predicted intracellular proteins, Disease related genes, Potential drug targets, Human disease related genes, Congenital malformations, Congenital malformations of the nervous system

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

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

Catalytic / active sites (1)

Position	Role
655	proton acceptor

Ligand- & substrate-binding residues (8)

Position	Role
710	Zn(2+)
711–714	substrate
364	Zn(2+)
366	substrate
366	Zn(2+)
435–440	substrate
633	Zn(2+)
636	substrate

Post-translational modifications (11)

Type	Positions
Phosphoserine	22, 46, 64, 80, 97, 114, 136, 138
Omega-n-methylarginine	45
Phosphotyrosine	91
Phosphothreonine	134

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-74217	Purine salvage	curated
R-HSA-1430728	Metabolism	—
R-HSA-15869	Metabolism of nucleotides	—
R-HSA-8956321	Nucleotide salvage	—

MSigDB gene sets: 320 (showing top): RNGTGGGC_UNKNOWN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_STEROL_HOMEOSTASIS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_KIDNEY_EPITHELIUM_DEVELOPMENT, USF_C, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_SALVAGE

GO Biological Process (11): IMP biosynthetic process (GO:0006188), GMP salvage (GO:0032263), IMP salvage (GO:0032264), AMP metabolic process (GO:0046033), ATP metabolic process (GO:0046034), GTP metabolic process (GO:0046039), cyclic purine nucleotide metabolic process (GO:0052652), energy homeostasis (GO:0097009), nucleoside phosphate metabolic process (GO:0006753), nucleotide metabolic process (GO:0009117), purine ribonucleoside monophosphate biosynthetic process (GO:0009168)

GO Molecular Function (6): AMP deaminase activity (GO:0003876), identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein binding (GO:0005515), hydrolase activity (GO:0016787), deaminase activity (GO:0019239)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Nucleotide salvage	1
Metabolism	1
Metabolism of nucleotides	1

GO top-level categories

26 GO namespaces:

Category	Terms
purine ribonucleotide metabolic process	3
purine ribonucleotide salvage	2
purine ribonucleoside monophosphate metabolic process	2
nucleoside triphosphate metabolic process	2
purine ribonucleoside triphosphate metabolic process	2
purine ribonucleotide biosynthetic process	1
purine ribonucleoside monophosphate biosynthetic process	1
IMP metabolic process	1
GMP biosynthetic process	1
IMP biosynthetic process	1
purine nucleotide metabolic process	1
cyclic nucleotide metabolic process	1
multicellular organismal-level homeostasis	1
organophosphate metabolic process	1
nucleobase-containing small molecule metabolic process	1
nucleoside phosphate metabolic process	1
purine nucleoside monophosphate biosynthetic process	1
ribonucleoside monophosphate biosynthetic process	1
adenosine-phosphate deaminase activity	1
protein binding	1
cation binding	1
binding	1
catalytic activity	1
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	1
cytoplasm	1
cellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 18 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
GMP salvage	BP	direct assay
IMP biosynthetic process	BP	genetic interaction
cyclic purine nucleotide metabolic process	BP	mutant phenotype
energy homeostasis	BP	genetic interaction
AMP deaminase activity	MF	genetic interaction
identical protein binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 1,278 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMPD2	ADSS2	P30520	915
AMPD2	ADA	P00813	871
AMPD2	ALDOB	P05062	721
AMPD2	PNP	P00491	720
AMPD2	GNAI3	P08754	712
AMPD2	ADK	P55263	685
AMPD2	ADSL	P30566	675
AMPD2	APRT	P07741	662
AMPD2	KHK	P50053	651
AMPD2	NT5C2	P49902	596
AMPD2	GMPS	P49915	593
AMPD2	IMPDH2	P12268	551
AMPD2	IMPDH1	P20839	549
AMPD2	GDA	Q9Y2T3	532
AMPD2	MPI	P34949	525

IntAct

Human interaction partners of AMPD2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

16 partners by confidence:

Partner	Interaction type	MIscore	Records
HIRIP3	physical association	0.710	1
CCNDBP1	physical association	0.670	4
SDC2	association	0.640	1
PHF8	association	0.530	1
TERF1	physical association	0.510	2
AMPD3	physical association	0.400	1
VIM	physical association	0.400	1
POT1	physical association	0.370	1
ARL6	association	0.350	1
CCDC198	association	0.350	1
EPS8	association	0.350	1
ZMPSTE24	association	0.350	1
NME7	physical association	0.000	1
TCHP	physical association	0.000	1
TUBG1	physical association	0.000	1
TUBGCP4	physical association	0.000	1

BioGRID (136 interactions; top human partners by supporting records): C14orf105 (Affinity Capture-MS; 3 records), CTBP1 (Affinity Capture-MS; 3 records), CD44 (Affinity Capture-MS; 2 records), DCAF8 (Affinity Capture-MS; 2 records), EPS8 (Affinity Capture-MS; 2 records), GPBP1L1 (Affinity Capture-MS; 2 records), GPR156 (Affinity Capture-MS; 2 records), LZTS2 (Affinity Capture-MS; 2 records), MLX (Affinity Capture-MS; 2 records), SDC1 (Affinity Capture-MS; 2 records), SDC2 (Affinity Capture-MS; 2 records), YWHAB (Affinity Capture-MS; 2 records), YWHAG (Affinity Capture-MS; 2 records), YWHAH (Affinity Capture-MS; 2 records), ACLY (Co-fractionation)

SIGNOR signaling

4 signaling interactions:

A	Effect	B	Mechanism
AMPD2	“down-regulates quantity”	AMP	“chemical modification”
AMPD2	“down-regulates quantity”	water	“chemical modification”
AMPD2	“up-regulates quantity”	IMP	“chemical modification”
AMPD2	“up-regulates quantity”	ammonium	“chemical modification”

Disease & clinical

Genetic variants

Variant evidence for AMPD2: 570 ClinVar records (45 pathogenic / likely pathogenic); 3 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	23
Likely pathogenic	22
Uncertain significance	218
Likely benign	219
Benign	41

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 45 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1325790	NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
3383361	NM_001368809.2(AMPD2):c.252_253insAGTGAGC (p.Glu85fs)	Likely pathogenic	criteria provided, multiple submitters, no conflicts	2
132810	NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)	Pathogenic	criteria provided, single submitter	2
429743	NM_001368809.2(AMPD2):c.531+2T>G	Pathogenic	criteria provided, single submitter	1
488467	NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg)	Pathogenic	criteria provided, single submitter	1
871869	NM_001368809.2(AMPD2):c.134_138del (p.Arg45fs)	Pathogenic	criteria provided, single submitter	1
975089	NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter)	Pathogenic	criteria provided, single submitter	1
1027468	NM_001368809.2(AMPD2):c.808del (p.Arg270fs)	Pathogenic	criteria provided, single submitter	1
1098293	NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter)	Pathogenic	criteria provided, single submitter	1
1180624	NM_001368809.2(AMPD2):c.532-1G>T	Pathogenic	criteria provided, single submitter	1
1991577	NM_001368809.2(AMPD2):c.-43_-24dup	Pathogenic	criteria provided, single submitter	1
2004862	NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)	Pathogenic	criteria provided, single submitter	1
2500190	NM_001368809.2(AMPD2):c.265_277del (p.Ala89fs)	Pathogenic	criteria provided, single submitter	1
3758013	NM_001368809.2(AMPD2):c.42del (p.Lys14fs)	Pathogenic	criteria provided, single submitter	1
4785536	NM_001368809.2(AMPD2):c.2007C>A (p.Tyr669Ter)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore AMPD2’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 1,454):

Position(s)	Effect	Δscore	Sites
1:109625660–109625661	acceptor_loss	1.0000	5
1:109625661	acceptor_gain	1.0000
1:109625793–109625794	donor_loss	1.0000	4
1:109625803	donor_gain	1.0000
1:109625807	donor_gain	1.0000
1:109626428–109626429	donor_loss	1.0000	5
1:109626724–109626725	acceptor_loss	1.0000	6
1:109626889	donor_gain	1.0000
1:109627303	donor_gain	1.0000
1:109627318	donor_loss	1.0000

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene MIM:102771 | disease phenotypes: MIM:615686, MIM:108600, MIM:615809, MIM:607596

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
pontocerebellar hypoplasia type 9	Definitive	Autosomal recessive	5
hereditary spastic paraplegia 63	Supportive	Autosomal recessive	2

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (17 panels, 12 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

17 panels:

Panel	Rating
Ataxia and cerebellar anomalies - childhood onset	green
Cerebellar hypoplasia	green
DDG2P	green
Early onset or syndromic epilepsy	green
Fetal anomalies	green
Hereditary ataxia	green
Hereditary ataxia and cerebellar anomalies, childhood onset	green
Hypotonic infant	green
Intellectual disability	green
Leukodystrophy, childhood onset	green
Paediatric disorders	green
Unexplained death in infancy and sudden unexplained death in childhood	green
Adult-onset neurological disorders	amber
Hereditary ataxia, adult onset	amber
Hereditary neuropathy or pain disorder	amber
Hereditary spastic paraplegia, adult onset	amber
Hereditary spastic paraplegia, childhood onset	amber

Mondo (5): hereditary spastic paraplegia 63 (MONDO:0014305), spastic ataxia (MONDO:0017845), pontocerebellar hypoplasia type 9 (MONDO:0014351), congenital nervous system disorder (MONDO:0002320), pontocerebellar hypoplasia (MONDO:0020135)

Orphanet (4): Autosomal recessive spastic paraplegia type 63 (Orphanet:401805), Spastic ataxia (Orphanet:316226), Pontocerebellar hypoplasia type 9 (Orphanet:369920), Non-syndromic pontocerebellar hypoplasia (Orphanet:98523)

HPO phenotypes

47 phenotypes (HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000188	Short upper lip
HP:0000297	Facial hypotonia
HP:0000341	Narrow forehead
HP:0000377	Abnormal pinna morphology
HP:0000486	Strabismus
HP:0000494	Downslanted palpebral fissures
HP:0000648	Optic atrophy
HP:0000737	Irritability
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001257	Spasticity
HP:0001258	Spastic paraplegia
HP:0001263	Global developmental delay
HP:0001276	Hypertonia
HP:0001288	Gait disturbance
HP:0001321	Cerebellar hypoplasia
HP:0001332	Dystonia
HP:0001344	Absent speech
HP:0001347	Hyperreflexia
HP:0002015	Dysphagia
HP:0002079	Hypoplasia of the corpus callosum
HP:0002119	Ventriculomegaly
HP:0002120	Cerebral cortical atrophy
HP:0002151	Increased circulating lactate concentration
HP:0002169	Clonus
HP:0002194	Delayed gross motor development
HP:0002518	Abnormal periventricular white matter morphology
HP:0003202	Skeletal muscle atrophy
HP:0003477	Peripheral axonal neuropathy
HP:0003487	Babinski sign
HP:0003577	Congenital onset
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0004325	Decreased body weight
HP:0005484	Secondary microcephaly
HP:0006938	Impaired vibration sensation at ankles
HP:0006970	Periventricular leukomalacia
HP:0008936	Axial hypotonia
HP:0011800	Midface retrusion
HP:0012110	Hypoplasia of the pons
HP:0012407	Scissor gait
HP:0012434	Delayed early-childhood social milestone development
HP:0025405	Visual fixation instability
HP:0031936	Delayed ability to walk
HP:0100704	Cerebral visual impairment

GWAS associations

3 associations:

Study	Trait	p-value
GCST010243_230	Apolipoprotein B levels	5e-8
GCST000578_3	Major depressive disorder	1e-6
GCST007102_4	Seasonality and depression	3e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0006876	seasonality measurement
EFO:0004615	apolipoprotein B measurement

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
C580383	Pontocerebellar Hypoplasia *(supp.)*
C564815	Spastic Ataxia *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2997 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

61 measured of 70 human assays (70 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
6-[4-({[(1S)-1-(isoquinolin-8-yl)ethyl]amino}methyl)phenyl]pyridine-3-carboxylic acid (Compound 3)	IC50	38 nM
CHEMBL5272816	IC50	100 nM
CHEMBL5270167	IC50	110 nM
CHEMBL5287644	IC50	130 nM
CHEMBL5281489	IC50	170 nM
CHEMBL5281034	IC50	200 nM
CHEMBL5283087	IC50	260 nM
CHEMBL5280447	IC50	270 nM
CHEMBL5284666	IC50	270 nM
2-(2-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid H2O	KI	300 nM
2-Benzyl-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid	KI	410 nM
CHEMBL5280490	IC50	410 nM
CHEMBL5282638	IC50	500 nM
2-(3-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid H2O	KI	790 nM
2-(3-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-methyl-hexanoic acid H2O.0.42CH3CO2H	KI	800 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-diisobutyl-hexanoic acid 2H2O	KI	860 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-diphenyl-hexanoic acid 2.75H2O	KI	920 nM
2-[4-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-butyl]-indan-2-carboxylic acid 1H2O	KI	970 nM
2-(4-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid 1.25H2O	KI	1100 nM
CHEMBL5269095	IC50	1100 nM
CHEMBL5284837	IC50	1100 nM
CHEMBL5287535	IC50	1300 nM
2-(3-Chloro-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid H2O.0.25CH3CO2H	KI	1400 nM
CHEMBL5276735	IC50	1400 nM
2-(4-Chloro-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid H2O.0.25CH3CO2H	KI	1700 nM
CHEMBL5284620	IC50	1700 nM
CHEMBL5289502	IC50	1700 nM
CHEMBL5271711	IC50	1800 nM
CHEMBL5271550	IC50	1800 nM
CHEMBL5266374	IC50	1900 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-phenyl-hexanoic acid 0.75H2O.0.27CH3CO2H	KI	2100 nM
CHEMBL5282210	IC50	2200 nM
CHEMBL5277889	IC50	2300 nM
2-(3-Bromo-phenyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid 0.75H2O.0.36CH3CO2H	KI	2400 nM
2-(3-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-methyl-hexanoic acid ethyl ester	KI	3000 nM
CHEMBL5290923	IC50	3100 nM
2-(3-Bromo-benzyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid ethyl ester	KI	3800 nM
CHEMBL5284646	IC50	4000 nM
Sodium; 6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoate 0.5H2O	KI	4200 nM
3-[5-(1H-Tetrazol-5-yl)-pentyl]-3,6,7,8-tetrahydro-imidazo[4,5-d][1,3]diazepin-8-ol 2H2O	KI	6000 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-dimethyl-hexanoic acid 0.6H2O.0.25CH3CO2H	KI	8200 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-phenyl-hexanoic acid ethyl ester	KI	9600 nM
2-(3-Bromo-phenyl)-6-(8-hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid ethyl ester	KI	9700 nM
7-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-heptanoic acid 0.5H2O	KI	10000 nM
CHEMBL5266988	IC50	12000 nM
3-Hexyl-3,6,7,8-tetrahydro-imidazo[4,5-d][1,3]diazepin-8-ol	KI	20000 nM
[5-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-pentyl]-phosphonic acid 1.75H2O	KI	35000 nM
3-(5-Hydroxy-pentyl)-3,6,7,8-tetrahydro-imidazo[4,5-d][1,3]diazepin-8-ol	KI	36000 nM
CHEMBL5273333	IC50	41000 nM
6-(8-Hydroxy-7,8-dihydro-6H-imidazo[4,5-d][1,3]diazepin-3-yl)-hexanoic acid ethyl ester	KI	44000 nM

ChEMBL bioactivities

62 potent at pChembl≥5 of 77 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.52	IC50	30	nM	CHEMBL5269095
7.22	IC50	60	nM	CHEMBL5271711
7.00	IC50	100	nM	CHEMBL5272816
6.96	IC50	110	nM	CHEMBL5270167
6.89	IC50	130	nM	CHEMBL5287644
6.85	IC50	140	nM	CHEMBL5287535
6.77	IC50	170	nM	CHEMBL5276735
6.77	IC50	170	nM	CHEMBL5281489
6.75	IC50	180	nM	CHEMBL5284620
6.72	IC50	190	nM	CHEMBL5289502
6.70	IC50	200	nM	CHEMBL5271550
6.70	IC50	200	nM	CHEMBL5281034
6.62	IC50	240	nM	CHEMBL5266374
6.58	IC50	260	nM	CHEMBL5283087
6.57	IC50	270	nM	CHEMBL5280447
6.57	IC50	270	nM	CHEMBL5284666
6.52	Ki	300	nM	CHEMBL36045
6.52	IC50	300	nM	CHEMBL5277889
6.39	Ki	410	nM	CHEMBL35929
6.39	IC50	410	nM	CHEMBL5280490
6.30	IC50	500	nM	CHEMBL5284646
6.30	IC50	500	nM	CHEMBL5282638
6.19	Ki	640	nM	CHEMBL290887
6.13	IC50	740	nM	CHEMBL5290923
6.10	Ki	800	nM	CHEMBL290887
6.10	Ki	790	nM	CHEMBL38113
6.07	Ki	860	nM	CHEMBL417506
6.04	Ki	920	nM	CHEMBL284799
6.01	Ki	970	nM	CHEMBL37713
5.96	Ki	1100	nM	CHEMBL289052
5.96	IC50	1100	nM	CHEMBL5269095
5.96	IC50	1100	nM	CHEMBL5284837
5.89	IC50	1300	nM	CHEMBL5287535
5.85	Ki	1400	nM	CHEMBL433444
5.85	IC50	1400	nM	CHEMBL5276735
5.77	Ki	1700	nM	CHEMBL37142
5.77	IC50	1700	nM	CHEMBL5284620
5.77	IC50	1700	nM	CHEMBL5289502
5.75	IC50	1800	nM	CHEMBL5271711
5.75	IC50	1800	nM	CHEMBL5271550
5.72	IC50	1900	nM	CHEMBL5266374
5.68	Ki	2100	nM	CHEMBL288348
5.66	IC50	2200	nM	CHEMBL5282210
5.64	IC50	2300	nM	CHEMBL5277889
5.62	Ki	2400	nM	CHEMBL38002
5.58	IC50	2600	nM	CHEMBL5270167
5.52	Ki	3000	nM	CHEMBL37641
5.52	IC50	3000	nM	CHEMBL5280447
5.51	IC50	3100	nM	CHEMBL5290923
5.42	Ki	3800	nM	CHEMBL289823

PubChem BioAssay actives

63 with measured affinity, of 112 total; 44 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
6-[4-[[[(1S)-1-isoquinolin-8-ylethyl]amino]methyl]phenyl]pyridine-3-carboxylic acid	1801154: AMPD Enzymatic Activity Assay from Article 10.1016/j.chembiol.2014.09.011: “Inhibition of AMP deaminase activity does not improve glucose control in rodent models of insulin resistance or diabetes.”	ic50	0.0160	uM
4-benzyl-5-fluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.0300	uM
4-benzyl-5,6-difluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.0600	uM
5,6-difluoro-4-[[4-[[4-(hydroxymethyl)phenoxy]methyl]phenyl]methyl]-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1000	uM
3,3-dimethyl-4-[[4-(phenoxymethyl)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1100	uM
5,6-difluoro-3,3-dimethyl-4-[[4-(phenoxymethyl)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1300	uM
3,3-dimethyl-4-[[3-(trifluoromethoxy)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1400	uM
4-[[4-[(4-acetamidophenoxy)methyl]phenyl]methyl]-5,6-difluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1700	uM
3,3-dimethyl-4-[(4-methylphenyl)methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1700	uM
4-benzyl-5-chloro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1800	uM
4-[(4-chlorophenyl)methyl]-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.1900	uM
4-[(3-chlorophenyl)methyl]-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2000	uM
4-[[4-[(4-carbamoylphenoxy)methyl]phenyl]methyl]-5,6-difluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2000	uM
4-benzyl-7-fluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2400	uM
4-benzyl-5,7-difluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2600	uM
4-benzyl-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2700	uM
3,3-dimethyl-4-[[4-(trifluoromethoxy)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.2700	uM
2-[(2-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.3000	uM
3,3-dimethyl-4-[(3-methylphenyl)methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.3000	uM
3,3-dimethyl-4-[[4-(2-phenylethyl)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.4100	uM
2-benzyl-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.4100	uM
4-benzyl-8-fluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.5000	uM
3,3-dimethyl-4-[[3-(2-phenylethyl)phenyl]methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.5000	uM
2-[(3-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-methylhexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.6400	uM
3,3-dimethyl-4-[(4-phenylmethoxyphenyl)methyl]-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	0.7400	uM
2-[(3-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.7900	uM
6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-bis(2-methylpropyl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.8600	uM
6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-diphenylhexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.9200	uM
2-[4-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)butyl]-1,3-dihydroindene-2-carboxylic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	0.9700	uM
2-[(4-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	1.1000	uM
4-benzyl-6-fluoro-3,3-dimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	1.1000	uM
2-[(3-chlorophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	1.4000	uM
2-[(4-chlorophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	1.7000	uM
6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-phenylhexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	2.1000	uM
4-benzyl-3,3,5-trimethyl-2H-quinoxaline-1-carboxamide	1937188: Inhibition of recombinant human AMPD2 using AMP as substrate preincubated for 30 mins followed by substrate addition and measured after 30 mins by spectrophotometric analysis	ic50	2.2000	uM
2-(3-bromophenyl)-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	2.4000	uM
ethyl 2-[(3-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-methylhexanoate	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	3.0000	uM
ethyl 2-[(3-bromophenyl)methyl]-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoate	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	3.8000	uM
sodium 6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoate	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	4.2000	uM
3-[5-(2H-tetrazol-5-yl)pentyl]-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-8-ol	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	6.0000	uM
6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2,2-dimethylhexanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	8.2000	uM
ethyl 6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)-2-phenylhexanoate	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	9.6000	uM
ethyl 2-(3-bromophenyl)-6-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)hexanoate	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	9.7000	uM
7-(8-hydroxy-7,8-dihydro-4H-imidazo[4,5-d][1,3]diazepin-3-yl)heptanoic acid	31739: Evaluated for the inhibition of porcine heart or human L-type Adenosine 5’-monophosphate deaminase (AMPDA)	ki	10.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases expression, affects cotreatment, decreases expression	2
Acetaminophen	decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, affects expression	2
Estradiol	increases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
M-VAC protocol	decreases response to substance	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
2-palmitoylglycerol	increases expression	1
tofacitinib	decreases expression, affects abundance	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Sunitinib	decreases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Adenosine	affects abundance, decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5240592	Binding	Inhibition of recombinant human AMPD2 using AMP as substrate incubated for 30 mins by spectrophotometric analysis	The discovery of 3,3-dimethyl-1,2,3,4-tetrahydroquinoxaline-1-carboxamides as AMPD2 inhibitors with a novel mechanism of action. — *Bioorg Med Chem Lett*

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2RK	Abcam HEK293T AMPD2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

showing 60 of 261 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT07542548	Phase 4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT07803276	Phase 4	RECRUITING	Comparison Between Palpatory and Ultrasound-guided Methods for Botulinum Toxin Administration in Spastic Paraplegia
NCT02270736	Phase 3	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	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT03961906	Phase 2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	Phase 2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT06117020	Phase 1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT04297891	Not specified	UNKNOWN	Phenotypes, Biomarkers and Pathophysiology in Spastic Ataxias
NCT07798674	Not specified	RECRUITING	TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	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
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
NCT02914951	Not specified	ENROLLING_BY_INVITATION	Cognitive-Behavioral Therapy for Irritability in Children With Autism Spectrum Disorder and Intellectual Disability
NCT02919826	Not specified	COMPLETED	Dialectical Behaviour Group Therapy for Adults With Intellectual Disabilities
NCT02934854	Not specified	WITHDRAWN	Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT03033797	Not specified	UNKNOWN	Augmentative and Alternative Communication in Games With Virtual Reality in Intellectual Disabilities
NCT03135236	Not specified	COMPLETED	Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
NCT03139760	Not specified	COMPLETED	POWERSforID: A Telehealth Weight Management System for Adults With Intellectual Disability
NCT03203226	Not specified	COMPLETED	The Feldenkrais Method for People With Intellectual Disability
NCT03212092	Not specified	COMPLETED	Reducing Aggression Among People With an Intellectual Disability
NCT03218462	Not specified	COMPLETED	Effect of Sensory Adapted Dental Environment on Dental Anxiety of Children With Intellectual and Developmental Disabilities

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for AMPD2 across ~30M SureChEMBL compounds — explore on Sugi Predict.