ADCY9

Summary

ADCY9 (adenylate cyclase 9, HGNC:240) is a protein-coding gene on chromosome 16p13.3, encoding Adenylate cyclase type 9 (O60503). Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors.

Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin.

Source: NCBI Gene 115 — RefSeq curated summary.

At a glance

• GWAS associations: 53
• Clinical variants (ClinVar): 235 total — 11 pathogenic, 2 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001116

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:240
Approved symbol	ADCY9
Name	adenylate cyclase 9
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	AC9
Ensembl gene	ENSG00000162104
Ensembl biotype	protein_coding
OMIM	603302
Entrez	115

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000294016, ENST00000571467, ENST00000571889, ENST00000572288, ENST00000574721, ENST00000575550, ENST00000576936, ENST00000868252, ENST00000936466, ENST00000936467, ENST00000944818

RefSeq mRNA: 1 — MANE Select: NM_001116 NM_001116

CCDS: CCDS32382

Canonical transcript exons

ENST00000294016 — 11 exons

Exon	Start	End
ENSE00001062629	4113750	4115485
ENSE00001101102	3983232	3983440
ENSE00001101106	3977482	3977630
ENSE00001101120	3974669	3974710
ENSE00001101128	3979116	3979275
ENSE00001225738	4115690	4116442
ENSE00001296872	3962653	3966966
ENSE00003558640	3988994	3989096
ENSE00003573515	4007368	4007558
ENSE00003658621	3993406	3993510
ENSE00003680511	3992146	3992363

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 95.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.7551 / max 31.1122, expressed in 1279 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156059	2.2731	1192
156057	0.2367	115
207715	0.1647	71
156058	0.0806	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	95.85	gold quality
choroid plexus epithelium	UBERON:0003911	95.75	gold quality
vastus lateralis	UBERON:0001379	93.25	gold quality
quadriceps femoris	UBERON:0001377	93.05	gold quality
gastrocnemius	UBERON:0001388	92.62	gold quality
left ventricle myocardium	UBERON:0006566	92.62	gold quality
skeletal muscle organ	UBERON:0014892	92.32	gold quality
muscle organ	UBERON:0001630	92.31	gold quality
gluteal muscle	UBERON:0002000	92.27	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.27	gold quality
muscle of leg	UBERON:0001383	92.24	gold quality
parotid gland	UBERON:0001831	92.14	gold quality
skeletal muscle tissue	UBERON:0001134	91.99	gold quality
deltoid	UBERON:0001476	91.98	gold quality
biceps brachii	UBERON:0001507	91.40	gold quality
endothelial cell	CL:0000115	91.25	gold quality
pancreatic ductal cell	CL:0002079	91.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.96	gold quality
heart right ventricle	UBERON:0002080	90.83	gold quality
cervix squamous epithelium	UBERON:0006922	90.78	silver quality
jejunal mucosa	UBERON:0000399	90.56	gold quality
tibialis anterior	UBERON:0001385	90.35	gold quality
visceral pleura	UBERON:0002401	90.34	gold quality
muscle tissue	UBERON:0002385	90.25	gold quality
oocyte	CL:0000023	90.21	gold quality
jejunum	UBERON:0002115	90.04	gold quality
triceps brachii	UBERON:0001509	89.40	gold quality
stromal cell of endometrium	CL:0002255	88.41	gold quality
body of tongue	UBERON:0011876	88.36	gold quality
myocardium	UBERON:0002349	88.03	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.88
E-GEOD-93593	no	158.47
E-CURD-10	no	111.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

176 targeting ADCY9, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4283	100.00	66.42	2097
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-371B-5P	99.99	75.34	4759
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4487	99.96	64.58	1252

Literature-anchored findings (GeneRIF, showing 20)

• The HIV-1 regulatory protein Tat was shown to inhibit the activity of adenylyl cyclase in rat microglial cells. (PMID:11299302)
• A case-control study using Ile772Met and a repeat (TTTA)n showed no significant association with mood disorders in Japan. (PMID:11840511)
• associated with bipolar disorder using pedigree linkage disequilibrium (PMID:12082561)
• blocking glycosylation of AC9 significantly attenuates Galpha(s) stimulation. (PMID:14996950)
• in heart, Yotiao brings together PKA, PP1, PDE4D3, AC9, and the I(Ks) channel to achieve localized temporal regulation of beta-adrenergic stimulation. (PMID:22778270)
• Data indicate that adenylyl cyclase 9 (AC9) transcript is a direct target of miR-181b. (PMID:24269684)
• The importance of miR-181a-mediated AC9 downregulation in acute promyelocytic leukemia, is reported. (PMID:24722286)
• The effects of dalcetrapib on atherosclerotic outcomes are determined by correlated polymorphisms in the ADCY9 gene. (PMID:25583994)
• The stronger TNF-alpha responses in young males compared to females may be partly associated with male-specific down-regulation of ADCY7 and ADCY9. (PMID:25959651)
• polymorphisms in the ADCY9 gene are significantly associated with asthma and/or allergy markers (PMID:28076799)
• ADCY9 immunoreactivity score was significantly higher (P=0.002) in tumor tissues (6.40+/-1.26, n=200) than in adjacent normal samples (4.13+/-0.83, n=8). The IRS and mRNA expression of ADCY9 were correlated to colon cancer TNM staging. (PMID:29292367)
• deductive reasoning leads to the suggestion that proteolytic cleavage of the C2b auto-inhibitory domain may govern the activation of AC9 by Gs-coupled receptors . (PMID:30121334)
• G protein-regulated endocytic trafficking of adenylyl cyclase type 9. (PMID:32515353)
• Assessment of ADCY9 polymorphisms and colorectal cancer risk in the Chinese Han population. (PMID:33232543)
• The ADCY9 genetic variants are associated with glioma susceptibility and patient prognosis. (PMID:33326832)
• miR1423p targets AC9 to regulate sciatic nerve injuryinduced neuropathic pain by regulating the cAMP/AMPK signalling pathway. (PMID:33416140)
• A sex-specific evolutionary interaction between ADCY9 and CETP. (PMID:34609279)
• [Association of the ADCY9 gene and gene-environmental interaction with the susceptibility to childhood bronchial asthma].", trans “ADCY9. (PMID:36111722)
• Human adenylyl cyclase 9 is auto-stimulated by its isoform-specific C-terminal domain. (PMID:36657828)
• The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response. (PMID:37579959)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	adcy9	ENSDARG00000100869
danio_rerio		ENSDARG00000103847
mus_musculus	Adcy9	ENSMUSG00000005580
rattus_norvegicus	Adcy9	ENSRNOG00000049768
drosophila_melanogaster	Ac13E	FBGN0022710
caenorhabditis_elegans		WBGENE00000068

Paralogs (17): GUCY1B1 (ENSG00000061918), GUCY2C (ENSG00000070019), ADCY2 (ENSG00000078295), GUCY2F (ENSG00000101890), NPR3 (ENSG00000113389), ADCY7 (ENSG00000121281), ADCY4 (ENSG00000129467), GUCY2D (ENSG00000132518), ADCY3 (ENSG00000138031), GUCY1A2 (ENSG00000152402), ADCY8 (ENSG00000155897), NPR2 (ENSG00000159899), GUCY1A1 (ENSG00000164116), ADCY1 (ENSG00000164742), NPR1 (ENSG00000169418), ADCY5 (ENSG00000173175), ADCY6 (ENSG00000174233)

Protein

Protein identifiers

Adenylate cyclase type 9 — O60503 (reviewed: O60503)

Alternative names: ATP pyrophosphate-lyase 9, Adenylate cyclase type IX, Adenylyl cyclase 9

All UniProt accessions (4): O60503, I3L300, I3L342, I3NI20

UniProt curated annotations — full annotation on UniProt →

Function. Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors. Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors.

Subcellular location. Cell membrane.

Tissue specificity. Detected in skeletal muscle, pancreas, lung, heart, kidney, liver, brain and placenta. Expressed in multiple cells of the lung, with expression highest in airway smooth muscle.

Activity regulation. Insensitive to calcium/calmodulin, forskolin and somatostatin. Stimulated by beta-adrenergic receptor activation. Activity is down-regulated by calcium/calcineurin.

Cofactor. Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro).

Domain organisation. The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.

Similarity. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.

RefSeq proteins (1): NP_001107* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001054	A/G_cyclase	Domain
IPR018297	A/G_cyclase_CS	Conserved_site
IPR029787	Nucleotide_cyclase	Homologous_superfamily

Pfam: PF00211

Catalyzed reactions (Rhea), 1 shown:

• ATP = 3’,5’-cyclic AMP + diphosphate (RHEA:15389)

UniProt features (66 total): topological domain 13, transmembrane region 12, binding site 12, modified residue 8, region of interest 5, compositionally biased region 5, glycosylation site 3, sequence conflict 3, domain 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9U3P	ELECTRON MICROSCOPY	2.65
9U3S	ELECTRON MICROSCOPY	3.1
9U3V	ELECTRON MICROSCOPY	3.2
9U3R	ELECTRON MICROSCOPY	3.23
9U3Q	ELECTRON MICROSCOPY	3.37
9U3U	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60503-F1	71.00	0.29

Functional residue map

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

Ligand- & substrate-binding residues (12): 399–404; 399; 399; 400; 441–443; 443; 443; 487; 1108; 1185–1187; 1192–1196; 1232

Post-translational modifications (8): 610, 688, 691, 706, 1257, 1259, 1295, 1307

Glycosylation sites (3): 206, 955, 964

Function

Pathways and Gene Ontology

Reactome pathways

46 pathways

ID	Pathway
R-HSA-163359	Glucagon signaling in metabolic regulation
R-HSA-163615	PKA activation
R-HSA-164378	PKA activation in glucagon signalling
R-HSA-170660	Adenylate cyclase activating pathway
R-HSA-170670	Adenylate cyclase inhibitory pathway
R-HSA-418555	G alpha (s) signalling events
R-HSA-418594	G alpha (i) signalling events
R-HSA-418597	G alpha (z) signalling events
R-HSA-432040	Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-9634597	GPER1 signaling
R-HSA-9660821	ADORA2B mediated anti-inflammatory cytokines production
R-HSA-9664323	FCGR3A-mediated IL10 synthesis
R-HSA-9856530	High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
R-HSA-111885	Opioid Signalling
R-HSA-111931	PKA-mediated phosphorylation of CREB
R-HSA-111933	Calmodulin induced events
R-HSA-111996	Ca-dependent events
R-HSA-111997	CaM pathway
R-HSA-112040	G-protein mediated events
R-HSA-112043	PLC beta mediated events
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112315	Transmission across Chemical Synapses
R-HSA-112316	Neuronal System
R-HSA-1430728	Metabolism
R-HSA-1489509	DAG and IP3 signaling
R-HSA-162582	Signal Transduction
R-HSA-163685	Integration of energy metabolism
R-HSA-1643685	Disease
R-HSA-372790	Signaling by GPCR

MSigDB gene sets: 333 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, KOBAYASHI_EGFR_SIGNALING_24HR_UP, ACTACCT_MIR196A_MIR196B, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_RESPONSE_TO_FLUID_SHEAR_STRESS, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, ATACCTC_MIR202, GOBP_CELLULAR_RESPONSE_TO_FLUID_SHEAR_STRESS, GOZGIT_ESR1_TARGETS_DN, GOBP_CAMP_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CYCLIC_NUCLEOTIDE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION

GO Biological Process (10): in utero embryonic development (GO:0001701), renal water homeostasis (GO:0003091), cAMP biosynthetic process (GO:0006171), signal transduction (GO:0007165), adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), intracellular signal transduction (GO:0035556), cellular response to glucagon stimulus (GO:0071377), adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880), vascular endothelial cell response to laminar fluid shear stress (GO:0097700), cyclic nucleotide biosynthetic process (GO:0009190)

GO Molecular Function (7): adenylate cyclase activity (GO:0004016), ATP binding (GO:0005524), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), lyase activity (GO:0016829), phosphorus-oxygen lyase activity (GO:0016849)

GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), ciliary basal body (GO:0036064)

Reactome top-level categories

Rollup of top-18 pathways:

Category	Pathways
GPCR downstream signalling	3
G-protein mediated events	2
Anti-inflammatory response favouring Leishmania parasite infection	2
Integration of energy metabolism	1
PKA-mediated phosphorylation of CREB	1
Glucagon signaling in metabolic regulation	1
Activation of GABAB receptors	1
Aquaporin-mediated transport	1
Signaling by Hedgehog	1
G alpha (s) signalling events	1
Response of endothelial cells to shear stress	1
G alpha (i) signalling events	1
Calmodulin induced events	1
CaM pathway	1
PLC beta mediated events	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
neuron projection	2
chordate embryonic development	1
renal system process	1
multicellular organismal-level water homeostasis	1
purine ribonucleotide biosynthetic process	1
cyclic nucleotide biosynthetic process	1
cAMP metabolic process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
intracellular anatomical structure	1
signal transduction	1
response to glucagon	1
cellular response to peptide hormone stimulus	1
adenylate cyclase-activating G protein-coupled receptor signaling pathway	1
adrenergic receptor signaling pathway	1
cellular response to laminar fluid shear stress	1
vascular endothelial cell response to fluid shear stress	1
nucleotide biosynthetic process	1
cyclic nucleotide metabolic process	1
cyclase activity	1
phosphorus-oxygen lyase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
lyase activity	1
cytoplasm	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

1208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADCY9	ADRB2	P07550	751
ADCY9	MAPK15	Q8TD08	729
ADCY9	SST	P01166	655
ADCY9	AKAP9	Q99996	641
ADCY9	ADCY5	O95622	630
ADCY9	GNAI2	P04899	620
ADCY9	GNA11	P29992	568
ADCY9	ADCY6	O43306	545
ADCY9	KCNQ1	P51787	518
ADCY9	KCNE1	P15382	518
ADCY9	PRKACB	P22694	515
ADCY9	ADCY1	Q08828	512
ADCY9	GNG12	Q9UBI6	503
ADCY9	PRKACG	P22612	501
ADCY9	PRKACA	P17612	492

IntAct

74 interactions, top by confidence:

A	B	Type	Score
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
NEMP1	RGPD8	psi-mi:“MI:0914”(association)	0.640
ADCY9	NEMP1	psi-mi:“MI:0914”(association)	0.640
SLC20A1	LIN7A	psi-mi:“MI:0914”(association)	0.640
STX7	SNAP23	psi-mi:“MI:0914”(association)	0.640
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
AREG	ADCY9	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
GINM1	ADCY9	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
FLVCR1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.530
PXYLP1	ADCY9	psi-mi:“MI:0914”(association)	0.500
PXYLP1	ADCY9	psi-mi:“MI:0915”(physical association)	0.500
HSPB1	ADCY9	psi-mi:“MI:0915”(physical association)	0.370
	SNAP23	psi-mi:“MI:0914”(association)	0.350
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
STX7	TYW5	psi-mi:“MI:0914”(association)	0.350
PIANP	TCAF2	psi-mi:“MI:0914”(association)	0.350
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.350
SLC20A1	MPP2	psi-mi:“MI:0914”(association)	0.350
GINM1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
PXYLP1	ADCY9	psi-mi:“MI:0914”(association)	0.350
IER3IP1	ADCY9	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (210): ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Two-hybrid), ADCY9 (Proximity Label-MS), ADCY9 (Proximity Label-MS), ADCY9 (Proximity Label-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS), ADCY9 (Affinity Capture-MS)

ESM2 similar proteins: A0A125YWU9, A4HVU6, B6EU02, F1QHM7, F1QX91, F5HB62, G5EBL2, G5ECJ0, G5ED05, G5EDW2, H2KZU7, O45813, O46080, O60353, O60503, P0C5E7, P0C5J9, P18475, P22815, P34358, P34389, P51830, P54779, P98999, Q09147, Q10128, Q20500, Q22271, Q24592, Q24738, Q29000, Q3V0G7, Q4E409, Q4QFY1, Q5RCN4, Q5VVW2, Q5Y5T3, Q61089, Q622X0, Q6P9Z6

Diamond homologs: A0A0U1RPR8, A0A509APX1, B1Q257, E7EAU8, G5EEE9, O02740, O16544, O16715, O19179, O54865, O60503, O62179, P0A4Y1, P16065, P16066, P16067, P16068, P18293, P18910, P19686, P19687, P20594, P20595, P23897, P25092, P26770, P46197, P51828, P51830, P51839, P51840, P51841, P51842, P52785, P55202, P55203, P55204, P55205, P70106, P91550

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
NF1	up-regulates	ADCY9
ADCY9	“up-regulates quantity”	“3’,5’-cyclic AMP”	“chemical modification”
GNAS	“up-regulates activity”	ADCY9	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	11
Likely pathogenic	2
Uncertain significance	171
Likely benign	20
Benign	11

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
148700	GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1	Pathogenic
148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	Pathogenic
154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	Pathogenic
3391928	GRCh37/hg19 16p13.3(chr16:3761912-4073514)x1	Pathogenic
443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	Pathogenic
58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	Pathogenic
58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	Pathogenic
59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	Pathogenic
687923	GRCh37/hg19 16p13.3(chr16:3728113-4114276)x3	Pathogenic
815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	Pathogenic
831349	NC_000016.10:g.(?3744874)(4337544_?)del	Pathogenic
1808651	GRCh37/hg19 16p13.3(chr16:3772570-4156857)x3	Likely pathogenic
2684778	GRCh37/hg19 16p13.3(chr16:3792951-4274168)x3	Likely pathogenic

SpliceAI

3890 predictions. Top by Δscore:

Variant	Effect	Δscore
16:3966962:CGGAA:C	acceptor_gain	1.0000
16:3966967:C:CC	acceptor_gain	1.0000
16:3977478:GTAC:G	donor_loss	1.0000
16:3977479:TACCT:T	donor_loss	1.0000
16:3977480:ACC:A	donor_loss	1.0000
16:3977481:CCTGT:C	donor_gain	1.0000
16:3977627:GGAA:G	acceptor_gain	1.0000
16:3977631:C:CC	acceptor_gain	1.0000
16:3979111:CTTA:C	donor_gain	1.0000
16:3979112:TTA:T	donor_loss	1.0000
16:3979114:A:AC	donor_gain	1.0000
16:3979115:C:A	donor_loss	1.0000
16:3979115:C:CT	donor_gain	1.0000
16:3979115:CG:C	donor_gain	1.0000
16:3979115:CGT:C	donor_gain	1.0000
16:3979115:CGTG:C	donor_gain	1.0000
16:3979115:CGTGT:C	donor_gain	1.0000
16:3979271:CCATC:C	acceptor_gain	1.0000
16:3979272:CATCC:C	acceptor_gain	1.0000
16:3988989:CGCA:C	donor_loss	1.0000
16:3988990:GCA:G	donor_loss	1.0000
16:3988991:CA:C	donor_loss	1.0000
16:3988992:A:C	donor_loss	1.0000
16:3988993:CCT:C	donor_gain	1.0000
16:3988998:T:TA	donor_gain	1.0000
16:3989092:TCAGG:T	acceptor_gain	1.0000
16:3989093:CAGG:C	acceptor_gain	1.0000
16:3989093:CAGGC:C	acceptor_gain	1.0000
16:3989094:AGG:A	acceptor_gain	1.0000
16:3989095:GG:G	acceptor_gain	1.0000

AlphaMissense

8937 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:3966140:C:G	G1233R	1.000
16:3966140:C:T	G1233R	1.000
16:3966141:C:A	K1232N	1.000
16:3966141:C:G	K1232N	1.000
16:3966143:T:C	K1232E	1.000
16:3966145:A:T	V1231D	1.000
16:3966201:G:C	S1212R	1.000
16:3966201:G:T	S1212R	1.000
16:3966203:T:G	S1212R	1.000
16:3966247:A:C	M1197R	1.000
16:3966250:C:A	R1196M	1.000
16:3966252:G:C	S1195R	1.000
16:3966252:G:T	S1195R	1.000
16:3966254:T:G	S1195R	1.000
16:3966256:G:T	A1194D	1.000
16:3966261:G:C	N1192K	1.000
16:3966261:G:T	N1192K	1.000
16:3966263:T:C	N1192D	1.000
16:3966265:A:T	V1191D	1.000
16:3966274:C:A	G1188V	1.000
16:3966274:C:T	G1188E	1.000
16:3966275:C:G	G1188R	1.000
16:3966275:C:T	G1188R	1.000
16:3966276:C:A	W1187C	1.000
16:3966276:C:G	W1187C	1.000
16:3966278:A:G	W1187R	1.000
16:3966278:A:T	W1187R	1.000
16:3966282:G:C	D1185E	1.000
16:3966282:G:T	D1185E	1.000
16:3966283:T:A	D1185V	1.000

dbSNP variants (sampled 300 via entrez): RS1000020630 (16:3964916 G>A), RS1000022344 (16:4110482 T>C), RS1000037244 (16:4012293 A>T), RS1000041583 (16:4010177 G>T), RS1000054856 (16:4110171 G>A), RS1000088536 (16:3979611 C>T), RS1000110777 (16:4021551 C>T), RS1000115827 (16:3953062 C>A,G), RS1000124189 (16:4112670 A>G), RS1000137745 (16:4083942 T>C,G), RS1000142914 (16:4073756 T>A,C), RS1000153690 (16:4080749 A>T), RS1000162662 (16:4105838 C>A), RS1000178748 (16:4042502 A>G), RS1000178930 (16:4116631 G>A,C,T)

Disease associations

OMIM: gene MIM:603302 | disease phenotypes: MIM:180849, MIM:226750

GenCC curated gene-disease

Mondo (4): Rubinstein-Taybi syndrome due to CREBBP mutations (MONDO:0008393), Rubinstein-Taybi syndrome (MONDO:0019188), amelocerebrohypohidrotic syndrome (MONDO:0009185), neurodevelopmental disorder (MONDO:0700092)

Orphanet (3): Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277), Rubinstein-Taybi syndrome (Orphanet:783), Amelocerebrohypohidrotic syndrome (Orphanet:1946)

HPO phenotypes

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

GWAS associations

53 associations (top):

Study	Trait	p-value
GCST000691_2	Partial epilepsies	1.000000e-06
GCST000830_36	Body mass index	9.000000e-08
GCST001953_42	Obesity	4.000000e-08
GCST002461_15	Body mass index	7.000000e-08
GCST002747_1	Response to Dalcetrapib treatment in acute coronary syndrome	2.000000e-08
GCST002811_3	Nonsyndromic cleft lip with or without cleft palate	9.000000e-12
GCST004065_48	Waist circumference	9.000000e-06
GCST004065_52	Waist circumference	3.000000e-09
GCST004066_124	Hip circumference	9.000000e-10
GCST004066_15	Hip circumference	2.000000e-06
GCST004166_27	Nonsyndromic cleft lip with cleft palate	1.000000e-10
GCST004557_108	Body mass index	1.000000e-06
GCST004557_139	Body mass index	1.000000e-06
GCST004557_209	Body mass index	5.000000e-07
GCST004557_240	Body mass index	1.000000e-11
GCST004557_29	Body mass index	2.000000e-11
GCST004557_67	Body mass index	1.000000e-06
GCST004558_105	Body mass index (joint analysis main effects and physical activity interaction)	5.000000e-06
GCST004558_137	Body mass index (joint analysis main effects and physical activity interaction)	6.000000e-06
GCST004558_160	Body mass index (joint analysis main effects and physical activity interaction)	5.000000e-11
GCST004558_178	Body mass index (joint analysis main effects and physical activity interaction)	6.000000e-06
GCST004558_26	Body mass index (joint analysis main effects and physical activity interaction)	3.000000e-11
GCST004559_104	Body mass index in physically active individuals	8.000000e-10
GCST004559_136	Body mass index in physically active individuals	3.000000e-06
GCST004559_22	Body mass index in physically active individuals	9.000000e-10
GCST004559_56	Body mass index in physically active individuals	3.000000e-06
GCST004627_158	Lymphocyte count	8.000000e-09
GCST004904_179	Body mass index	9.000000e-19
GCST004904_245	Body mass index	3.000000e-12
GCST005076_12	Breast cancer (estrogen-receptor negative)	2.000000e-08

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006916	response to dalcetrapib
EFO:0006919	cardiovascular event measurement
EFO:0003959	cleft lip
EFO:0008002	physical activity measurement
EFO:0004587	lymphocyte count
EFO:0006941	grip strength measurement
EFO:0009959	diverticular disease
EFO:0009270	heel bone mineral density
EFO:0006335	systolic blood pressure
EFO:0004338	body weight
EFO:0007874	gut microbiome measurement
EFO:0009819	comparative body size at age 10, self-reported
EFO:0008343	sex interaction measurement
EFO:0004980	appendicular lean mass
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0004309	platelet count

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
D012415	Rubinstein-Taybi Syndrome	C05.116.099.370.797; C05.660.207.850; C10.597.606.360.700; C16.131.077.804; C16.131.260.790; C16.131.621.207.850; C16.320.180.790
C537213	Kohlschutter Tonz syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2097167 (PROTEIN FAMILY), CHEMBL2655 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1967309	Efficacy,Toxicity	3	dalcetrapib	Acute coronary syndrome

PharmGKB variants

3 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1967309	ADCY9	3	3.00	1	dalcetrapib
rs144315541	ADCY9		0.00	0
rs2230739	ADCY9		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Adenylyl cyclases (ACs)

ChEMBL bioactivities

24 potent at pChembl≥5 of 24 total, top 24 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.06	Ki	0.88	nM	CHEMBL3142312
8.77	Ki	1.7	nM	CHEMBL3142318
8.77	Ki	1.7	nM	CHEMBL3142332
8.72	Ki	1.9	nM	CHEMBL3142329
8.60	Ki	2.5	nM	CHEMBL3142331
8.59	Ki	2.6	nM	CHEMBL2369777
8.41	Ki	3.9	nM	CHEMBL2369525
8.38	Ki	4.2	nM	CHEMBL2369778
8.11	Ki	7.8	nM	CHEMBL3142313
7.85	Ki	14	nM	CHEMBL66087
7.77	Ki	17	nM	CHEMBL418135
7.70	Ki	20	nM	CHEMBL293907
7.54	Ki	29	nM	CHEMBL305151
7.48	Ki	33	nM	CHEMBL62123
7.16	Ki	69	nM	CHEMBL305151
7.15	EC50	71	nM	(R)-SKF-38393
6.96	Ki	110	nM	CHEMBL62412
6.84	Ki	144	nM	CHEMBL64475
6.59	Ki	254	nM	CHEMBL62444
6.52	Ki	300	nM	CHEMBL62892
6.50	Ki	317	nM	CHEMBL64646
6.21	Ki	610	nM	CHEMBL418468
6.00	Ki	1000	nM	CHEMBL64955
5.28	EC50	5200	nM	CHEMBL57873

PubChem BioAssay actives

24 with measured affinity, of 2595 total; 23 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
(4R,7S,10S,13S,16S)-N-[(2R)-1-[[(2R)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0009	uM
(4R,7S,10S,13S,16S)-N-[(2S)-1-[[(2S)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0017	uM
(4R,7S,10S,13S,16S)-N-[(2S)-1-[[(2R)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0017	uM
(4R,7S,10S,13S,16S)-N-[(2R)-1-[[(2S)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0019	uM
(4R,7S,10S,13S,16S)-N-[(2S)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34312: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0025	uM
(4R,7S,10S,13S,16R)-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-N-[(2S)-5-(diaminomethylideneamino)-1-[[(2S)-1,6-diamino-1-oxohexan-2-yl]amino]-1-oxopentan-2-yl]-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0026	uM
(2S)-N-[(2S)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]-1-[(4R,7S,10S,13S,16R)-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carbonyl]pyrrolidine-2-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0039	uM
(4R,7S,10S,13S,16R)-N-[(2S)-6-amino-1-[[(2S)-1-amino-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-1-oxohexan-2-yl]-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0042	uM
(2S)-2-[[(2S)-2-[[(4R,7S,10S,13S,16S)-7-(2-amino-2-oxoethyl)-13-benzyl-20,20-dicyclopentyl-16-[(4-ethoxyphenyl)methyl]-6,9,12,15,18-pentaoxo-10-propan-2-yl-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carbonyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-5-(diaminomethylideneamino)pentanoic acid	34311: Compound was evaluated for the inhibition constant for inhibition of 8-lysine-vasopressin stimulated adenylate cyclase of pig kidney medullary membrane	ki	0.0078	uM
3-[[4-[1-[4-(2,4-dichlorophenyl)anilino]-1-oxooctan-2-yl]oxybenzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.0140	uM
3-[[4-[1-[4-(1-benzofuran-2-yl)anilino]-1-oxooctan-2-yl]oxybenzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.0170	uM
3-[[4-[2-[[4-(1-benzofuran-2-yl)phenyl]carbamoyl]octyl]benzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.0200	uM
3-[[4-[3-[4-(1-benzofuran-2-yl)anilino]-2-(4-tert-butylphenyl)-3-oxopropyl]benzoyl]amino]propanoic acid	34296: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.0290	uM
3-[[4-[2-(4-tert-butylphenyl)-3-[4-(2,4-dichlorophenyl)anilino]-3-oxopropyl]benzoyl]amino]propanoic acid	34296: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.0330	uM
(5R)-5-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol	34592: Compound was tested for the adenylate cyclase stimulation	ec50	0.0710	uM
3-[[4-[2-(4-tert-butylphenyl)-3-oxo-3-[4-(trifluoromethoxy)anilino]propyl]benzoyl]amino]propanoic acid	34296: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.1100	uM
3-[[4-[1-(4-tert-butylphenyl)-2-oxo-2-(4-phenylanilino)ethoxy]benzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.1440	uM
3-[[4-[[(4-tert-butylcyclohexyl)-[[4-(trifluoromethoxy)phenyl]carbamoyl]amino]methyl]benzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.2540	uM
3-[[4-[2-(4-tert-butylphenyl)-3-oxo-3-(4-phenylanilino)propyl]benzoyl]amino]propanoic acid	34296: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.3000	uM
4-[1-(4-tert-butylphenyl)-2-oxo-2-(4-phenylanilino)ethoxy]-N-(2H-tetrazol-5-yl)benzamide	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.3170	uM
3-[[4-[2-(4-tert-butylphenyl)-3-oxo-3-(quinolin-3-ylamino)propyl]benzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	0.6100	uM
3-[[4-[2-(4-tert-butylphenyl)-3-[4-(hydroxymethyl)anilino]-3-oxopropyl]benzoyl]amino]propanoic acid	34294: In vitro inhibitory activity against glucagon induced human adenylate cyclase	ki	1.0000	uM
2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol	34592: Compound was tested for the adenylate cyclase stimulation	ec50	5.2000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	increases expression, affects methylation, decreases expression	3
bisphenol A	decreases methylation, increases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
Tetrachlorodibenzodioxin	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cyclosporine	decreases expression	2
FR900359	affects phosphorylation	1
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	affects cotreatment, affects expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
afimoxifene	decreases reaction, increases expression	1
11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	affects methylation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	affects cotreatment, affects expression, decreases expression	1
coumarin	decreases phosphorylation	1
perfluorooctane sulfonic acid	affects expression, decreases expression, affects cotreatment	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
perfluorobutanesulfonic acid	decreases expression, affects cotreatment, affects expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression, affects cotreatment	1
Arsenic Trioxide	decreases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Vehicle Emissions	decreases expression	1

ChEMBL screening assays

18 unique, capped per target: 16 binding, 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3284336	Binding	Agonist activity at adenylyl cyclase (unknown origin) at 1.35 x 10’-4 M	Synthesis of a fragment of human parathyroid hormore, hPTH-(44-68). — J Med Chem
CHEMBL645298	Functional	In vitro antagonist activity was measured by inhibition of vasopressin-stimulated adenylate cyclase in renal medullary preparation in pig	Dicarbavasopressin antagonist analogues exhibit reduced in vivo agonist activity. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SB70	HAP1 ADCY9 (-) 1	Cancer cell line	Male
CVCL_XL07	HAP1 ADCY9 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT01619644	PHASE2	COMPLETED	Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT04122742	Not specified	UNKNOWN	Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
NCT05696912	Not specified	UNKNOWN	Functional Tests to Resolve Unsolved Rare Diseases. Rares.
NCT06740162	Not specified	RECRUITING	Physical Activity and Community EmPOWERment Project
NCT04681781	Not specified	ENROLLING_BY_INVITATION	SLC13A5 Deficiency Natural History Study - Remote Only
NCT06144957	Not specified	ENROLLING_BY_INVITATION	SLC13A5 Deficiency Natural History Study - United States Only
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
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NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring