NPR2

Summary

NPR2 (natriuretic peptide receptor 2, HGNC:7944) is a protein-coding gene on chromosome 9p13.3, encoding Atrial natriuretic peptide receptor 2 (P20594). Receptor for the C-type natriuretic peptide NPPC/CNP hormone.

This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type.

Source: NCBI Gene 4882 — RefSeq curated summary.

At a glance

• Gene–disease (curated): acromesomelic dysplasia 1, Maroteaux type (Definitive, GenCC) — +3 more curated relationships
• Clinical variants (ClinVar): 739 total — 58 pathogenic, 36 likely-pathogenic
• Phenotypes (HPO): 55
• Druggable target: yes
• MANE Select transcript: NM_003995

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7944
Approved symbol	NPR2
Name	natriuretic peptide receptor 2
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	GUCY2B, ANPb, GC-B
Ensembl gene	ENSG00000159899
Ensembl biotype	protein_coding
OMIM	108961
Entrez	4882

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 15 protein_coding, 10 retained_intron, 6 nonsense_mediated_decay, 4 protein_coding_CDS_not_defined

ENST00000342694, ENST00000421267, ENST00000448821, ENST00000464810, ENST00000469249, ENST00000685871, ENST00000686159, ENST00000686486, ENST00000687302, ENST00000687357, ENST00000687625, ENST00000687787, ENST00000688201, ENST00000688226, ENST00000688869, ENST00000689788, ENST00000689898, ENST00000690070, ENST00000690267, ENST00000690552, ENST00000691138, ENST00000691969, ENST00000692232, ENST00000692233, ENST00000692380, ENST00000692447, ENST00000693094, ENST00000893533, ENST00000893534, ENST00000893535, ENST00000893536, ENST00000914728, ENST00000964862, ENST00000964863, ENST00000964864

RefSeq mRNA: 2 — MANE Select: NM_003995 NM_001378923, NM_003995

CCDS: CCDS6590

Canonical transcript exons

ENST00000342694 — 22 exons

Exon	Start	End
ENSE00001048335	35808509	35808683
ENSE00002293758	35791591	35793075
ENSE00003463658	35801926	35802000
ENSE00003467021	35801070	35801154
ENSE00003468129	35802206	35802283
ENSE00003503225	35809156	35809247
ENSE00003513453	35808755	35808853
ENSE00003519175	35800709	35800841
ENSE00003525646	35807330	35807398
ENSE00003548722	35800022	35800157
ENSE00003560556	35802732	35802803
ENSE00003589883	35802503	35802607
ENSE00003604100	35809380	35809731
ENSE00003606538	35805830	35805985
ENSE00003616993	35793898	35794103
ENSE00003622379	35800389	35800483
ENSE00003630130	35805511	35805670
ENSE00003652286	35801643	35801763
ENSE00003658681	35799618	35799731
ENSE00003662700	35807023	35807146
ENSE00003687133	35806065	35806233
ENSE00003694553	35806392	35806538

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 99.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.9546 / max 98.2083, expressed in 1082 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96634	6.9546	1082

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.44	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.49	gold quality
cerebellar hemisphere	UBERON:0002245	96.22	gold quality
cerebellar cortex	UBERON:0002129	96.15	gold quality
adenohypophysis	UBERON:0002196	95.27	gold quality
endocervix	UBERON:0000458	94.78	gold quality
cerebellum	UBERON:0002037	94.74	gold quality
ascending aorta	UBERON:0001496	94.31	gold quality
descending thoracic aorta	UBERON:0002345	94.29	gold quality
thoracic aorta	UBERON:0001515	94.27	gold quality
pituitary gland	UBERON:0000007	94.19	gold quality
body of uterus	UBERON:0009853	93.48	gold quality
stromal cell of endometrium	CL:0002255	93.45	gold quality
left uterine tube	UBERON:0001303	92.57	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.36	gold quality
tibial nerve	UBERON:0001323	92.25	gold quality
apex of heart	UBERON:0002098	92.13	gold quality
aorta	UBERON:0000947	91.98	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.88	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.86	gold quality
left coronary artery	UBERON:0001626	91.81	gold quality
lower esophagus	UBERON:0013473	91.79	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.35	gold quality
coronary artery	UBERON:0001621	91.29	gold quality
right coronary artery	UBERON:0001625	91.29	gold quality
right testis	UBERON:0004534	91.26	gold quality
mucosa of stomach	UBERON:0001199	91.25	gold quality
right lung	UBERON:0002167	91.14	gold quality
ectocervix	UBERON:0012249	91.14	gold quality
caudate nucleus	UBERON:0001873	91.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.36

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 40)

• protein structure: ligand binding domains (PMID:11556325)
• NPR-B is highly expressed in glomeruli and proximal tubules, whereas NPR-Bi(the splice form) shows strong signals in the distal nephron (PMID:12709393)
• a marker for left ventricular dysfunction in diabetic patients. (PMID:14988324)
• Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux (PMID:15146390)
• The 5’ terminus of the hNPR-B gene transcript is ~732 base pairs upstream from the presumed translation start site. Its activity is dominated by a single cluster of Sp1-binding elements in the proximal 5’ flanking sequence of the gene. (PMID:15262909)
• hyperosmotic and lysophosphatidic acid-dependent inhibition of NPRB is mediated by calcium-dependent phosphorylation (PMID:15371450)
• NPR-A and NPR-B are desensitized in cells in which they are not internalized. (PMID:15459247)
• discussion of C-type natriuretic peptide and guanylyl cyclase B receptor [review] (PMID:15911070)
• ATP does not activate NPRA and NPRB as has been repeatedly reported. Instead, ATP increases activity primarily by maintaining proper receptor phosphorylation status but also serves a previously unappreciated enzyme stabilizing function. (PMID:15911610)
• Study focus on the role of NPR-B and its ligand C-type natriuretic peptide in cardiovascular physiology and disease. (PMID:17429599)
• intact kinase homology domain of NPR-B is essential for skeletal development (PMID:17652215)
• Defective cellular trafficking of NPR-B resulted from missense mutation is associated with acromesomelic dysplasia-type Maroteaux. (PMID:18945719)
• The extracellular domain of human GC-B folds independently of the remainder of the protein. (PMID:19108585)
• BNP level on arrival in the intensive care unit may support early diagnosis and allow optimal management of heart failure after aortic valve replacement (PMID:19167912)
• It appears that subjects homozygous for C allele at position 381 of the BNP precursor gene promoter are more prone to develop atherosclerotic lesions in renal arteries. (PMID:19413180)
• Data indicate that the familial ANP mutation associated with atrial fibrillation has only minor effects on natriuretic peptide receptor interactions but markedly modifies peptide proteolysis. (PMID:19458086)
• Results show that VILIP-1 regulates the cell surface localization of natriuretic peptide receptor B. (PMID:20079378)
• A polymorphism in natriuretic peptide receptor 2 influences the susceptibility to idiopathic dilated cardiomyopathy in a Chinese cohort. (PMID:20123316)
• Data show that serum B-type natriuretic peptide strongly correlates with new-onset heart failure development at the optimal cut-off value of 175 pg/mL. (PMID:20600420)
• These studies showed the presence of NPR-A and NPR-B (mRNAs and protein) in human corneal epithelial tissue. (PMID:20664698)
• The data indicates that ANP, BNP, and CNP and natriuretic peptide receptor transcripts are expressed and are functional in human lens epithelial cells. (PMID:20700369)
• we identified and characterized new phosphorylation sites in GC-A and GC-B and provide the first evidence of phosphorylation sites within human guanylyl cyclases. (PMID:20977274)
• Cellular exposure to Go6976 reduced basal and natriuretic peptide-dependent, but not detergent-dependent, GC-A and GC-B activity. (PMID:21366551)
• Go6976 reduces GTP binding to the catalytic site of GC-A and GC-B and that ATP increases the magnitude of the inhibition. (PMID:21828054)
• results provide evidence for a potential causal role of the B-type natriuretic peptide system in the aetiology of type 2 diabetes (PMID:22039354)
• GC-B activity is increased in non-myocytes from failing human ventricles, possibly as a result of increased fibrosis. (PMID:22133375)
• Report the presence of CNP and its receptors, NPR2/3 in atherosclerotic plaques of human carotid artery. (PMID:22421372)
• Patients with BNP on admission greater than 150/pg/ml have higher probability of death in follow up. (PMID:22633662)
• NPR2 expression in normal human fetal and adult pituitaries and adenomatous pituitary tissue suggests a role for these receptors in both pituitary development and oncogenesis. (PMID:22645228)
• Two novel missense mutations in the gene NPR2 were identified six consanguineous families of Pakistani origin. The presence of the same mutation (p. T907M) and haplotype in five families (A, B, C, D, E) is suggestive of a founder effect. (PMID:22691581)
• An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. (PMID:22870295)
• Gene expression of C-type natriuretic peptide and of its specific receptor NPR-B in human leukocytes of healthy and heart failure subjects (PMID:22884919)
• Guanylyl cyclases A and B are asymmetric dimers that are allosterically activated by ATP binding to the catalytic domain. (PMID:22949736)
• ACNP stimulated both human natriuretic peptide receptors (NPRs), NPRA and NPRB, as potent as their native ligands in receptor transfected cells. (PMID:23186809)
• Although no novel phosphorylation sites that influenced the suppression of guanylate cyclase-B were identified, experiments revealed that mutations in Tyr808 markedly enhanced GC-B activity. (PMID:23586811)
• study concludes V883M mutation increases maximal velocity in absence of C-type natriuretic peptide (CNP), eliminates requirement for ATP in the CNP-dependent Km reduction and disrupts normal inactivation process; established a molecular mechanism for how an amino acid substitution in GC-B activates the enzyme, which results in abnormally long and fragile bones (PMID:23827346)
• KIdney NPR2 protein quantity is significantly impacted by genetic variation. (PMID:23835779)
• We identified heterozygous NPR2 mutations in 6% of patients initially classified as idiopathic short stature. Affected patients have mild and variable degrees of short stature without a distinct phenotype. (PMID:24001744)
• Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. (PMID:24259409)
• In transgenic mice, complete absence of Npr2 activity prohibits the bifurcation of cranial sensory axons. (PMID:24431432)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	npr1b	ENSDARG00000018750
danio_rerio	npr1a	ENSDARG00000031751
mus_musculus	Npr2	ENSMUSG00000028469
rattus_norvegicus	Npr2	ENSRNOG00000015991

Paralogs (17): GUCY1B1 (ENSG00000061918), GUCY2C (ENSG00000070019), ADCY2 (ENSG00000078295), GUCY2F (ENSG00000101890), NPR3 (ENSG00000113389), ADCY7 (ENSG00000121281), ADCY4 (ENSG00000129467), GUCY2D (ENSG00000132518), ADCY3 (ENSG00000138031), GUCY1A2 (ENSG00000152402), ADCY8 (ENSG00000155897), ADCY9 (ENSG00000162104), GUCY1A1 (ENSG00000164116), ADCY1 (ENSG00000164742), NPR1 (ENSG00000169418), ADCY5 (ENSG00000173175), ADCY6 (ENSG00000174233)

Protein

Protein identifiers

Atrial natriuretic peptide receptor 2 — P20594 (reviewed: P20594)

Alternative names: Atrial natriuretic peptide receptor type B, Guanylate cyclase B

All UniProt accessions (12): P20594, A0A8I5KR63, A0A8I5KSX8, A0A8I5KT66, A0A8I5KTF2, A0A8I5KTJ8, A0A8I5KVN5, A0A8I5KVW9, A0A8I5QJG2, A0A8I5QJT7, H7C1A1, H7C1X0

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for the C-type natriuretic peptide NPPC/CNP hormone. Has guanylate cyclase activity upon binding of its ligand. May play a role in the regulation of skeletal growth.

Subcellular location. Cell membrane.

Post-translational modifications. Phosphorylated. Phosphorylation of the protein kinase-like domain is required for full activation by CNP. Glycosylated.

Disease relevance. Acromesomelic dysplasia 1 (AMD1) [MIM:602875] A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth. The disease is caused by variants affecting the gene represented in this entry. Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. The disease is caused by variants affecting the gene represented in this entry. Short stature with non-specific skeletal abnormalities 1 (SNSK1) [MIM:616255] An autosomal dominant condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. Some SNSK1 patients show delayed bone age. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P20594-1	Long	yes
P20594-2	Short, NPR-BI

RefSeq proteins (2): NP_001365852, NP_003986* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001054	A/G_cyclase	Domain
IPR001170	ANPR/GUC	Family
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR001828	ANF_lig-bd_rcpt	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR018297	A/G_cyclase_CS	Conserved_site
IPR028082	Peripla_BP_I	Homologous_superfamily
IPR029787	Nucleotide_cyclase	Homologous_superfamily
IPR050401	Cyclic_nucleotide_synthase	Family

Pfam: PF00211, PF01094, PF07714

Enzyme classification (BRENDA):

• EC 4.6.1.2 — guanylate cyclase (BRENDA: 58 organisms, 213 substrates, 212 inhibitors, 100 Km, 16 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GTP	0.01–6.09	90
2’-O-(N-METHYLANTHRANILOYL) GUANOSINE 5’-TRIPHOS	0.0357	1
GUANYL-(BETA,GAMMA-METHYLENE)-DIPHOSPHONATE	0.37	1
GUANYL-IMIDODIPHOSPHATE	0.07	1
MN2+	2.7	1

Catalyzed reactions (Rhea), 1 shown:

• GTP = 3’,5’-cyclic GMP + diphosphate (RHEA:13665)

UniProt features (51 total): sequence variant 24, modified residue 7, glycosylation site 7, disulfide bond 3, topological domain 2, domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20594-F1	84.00	0.45

Functional residue map

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

Post-translational modifications (7): 522, 523, 526, 529, 513, 516, 518

Disulfide bonds (3): 75–101, 439, 448

Glycosylation sites (7): 24, 35, 161, 195, 244, 277, 349

Mutagenesis-validated functional residues (1):

Position	Phenotype
24	decreased glycosylation. decreased guanylate cyclase activity.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5578768	Physiological factors
R-HSA-397014	Muscle contraction
R-HSA-5576891	Cardiac conduction

MSigDB gene sets: 436 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_SINGLE_FERTILIZATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_DIGESTION, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_CELL_MATURATION, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, WANG_CLIM2_TARGETS_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CARTILAGE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS

GO Biological Process (68): MAPK cascade (GO:0000165), cumulus cell differentiation (GO:0001549), vasculogenesis (GO:0001570), lymph vessel development (GO:0001945), endochondral ossification (GO:0001958), startle response (GO:0001964), blood vessel remodeling (GO:0001974), chondrocyte differentiation (GO:0002062), growth plate cartilage development (GO:0003417), cGMP biosynthetic process (GO:0006182), vacuole organization (GO:0007033), receptor guanylyl cyclase signaling pathway (GO:0007168), epidermal growth factor receptor signaling pathway (GO:0007173), chemical synaptic transmission (GO:0007268), spermatogenesis (GO:0007283), sensory perception of sound (GO:0007605), regulation of blood pressure (GO:0008217), neuronal action potential (GO:0019228), vestibulocochlear nerve maturation (GO:0021647), female genitalia development (GO:0030540), response to luteinizing hormone (GO:0034699), limb morphogenesis (GO:0035108), genitalia morphogenesis (GO:0035112), multicellular organism growth (GO:0035264), gastric emptying (GO:0035483), chondrocyte proliferation (GO:0035988), post-anal tail morphogenesis (GO:0036342), digestive tract morphogenesis (GO:0048546), collateral sprouting (GO:0048668), smooth muscle tissue development (GO:0048745), white fat cell differentiation (GO:0050872), chromosome organization (GO:0051276), neuron apoptotic process (GO:0051402), negative regulation of meiotic cell cycle (GO:0051447), axonogenesis involved in innervation (GO:0060385), activation of meiosis involved in egg activation (GO:0060466), vascular wound healing (GO:0061042), c-di-GMP signaling (GO:0061939), cellular response to cGMP (GO:0071321), response to fibroblast growth factor (GO:0071774)

GO Molecular Function (12): guanylate cyclase activity (GO:0004383), protein kinase activity (GO:0004672), ATP binding (GO:0005524), GTP binding (GO:0005525), natriuretic peptide receptor activity (GO:0016941), peptide hormone binding (GO:0017046), hormone binding (GO:0042562), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), protein binding (GO:0005515), lyase activity (GO:0016829), phosphorus-oxygen lyase activity (GO:0016849)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886), cilium (GO:0005929), neuron projection (GO:0043005), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Cardiac conduction	1
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
developmental process involved in reproduction	2
cell differentiation	2
purine ribonucleoside triphosphate binding	2
binding	2
cellular anatomical structure	2
plasma membrane bounded cell projection	2
intracellular signaling cassette	1
antral ovarian follicle growth	1
fused antrum stage	1
granulosa cell differentiation	1
blood vessel morphogenesis	1
vasculature development	1
anatomical structure development	1
replacement ossification	1
endochondral bone morphogenesis	1
response to external stimulus	1
neuromuscular process	1
tissue remodeling	1
cartilage development	1
endochondral bone growth	1
cartilage development involved in endochondral bone morphogenesis	1
connective tissue development	1
purine ribonucleotide biosynthetic process	1
cyclic nucleotide biosynthetic process	1
cGMP metabolic process	1
organelle organization	1
enzyme-linked receptor protein signaling pathway	1
ERBB signaling pathway	1
anterograde trans-synaptic signaling	1
male gamete generation	1
sensory perception of mechanical stimulus	1
blood circulation	1
regulation of biological quality	1
action potential	1
transmission of nerve impulse	1
vestibulocochlear nerve development	1
cranial nerve maturation	1
female sex differentiation	1
genitalia development	1
cGMP biosynthetic process	1

Protein interactions and networks

STRING

836 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NPR2	NPPC	P23582	999
NPR2	NPPA	P01160	995
NPR2	NPPB	P16860	946
NPR2	NPTXR	O95502	799
NPR2	GCDH	Q92947	739
NPR2	TMEM214	Q6NUQ4	670
NPR2	EXD2	Q9NVH0	670
NPR2	CNOT2	Q9NZN8	639
NPR2	GUCA2B	Q16661	577
NPR2	NPR3	P17342	555
NPR2	SEC61B	P38390	549
NPR2	PDE3A	Q14432	545
NPR2	GUCA1A	P43080	537
NPR2	CORIN	Q9Y5Q5	511
NPR2	PRKG1	P14619	509

IntAct

25 interactions, top by confidence:

A	B	Type	Score
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
SCGB1D1	MANBA	psi-mi:“MI:0914”(association)	0.640
GPRC5B	STXBP3	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
NPR2	NUMA1	psi-mi:“MI:0915”(physical association)	0.400
HSP90AB1	NPR2	psi-mi:“MI:0915”(physical association)	0.400
CDC37	NPR2	psi-mi:“MI:0915”(physical association)	0.400
ACADVL	NPR2	psi-mi:“MI:0914”(association)	0.350
ALDH3B1	ENC1	psi-mi:“MI:0914”(association)	0.350
BCL2L12	NPR2	psi-mi:“MI:0914”(association)	0.350
BFSP2	ZZEF1	psi-mi:“MI:0914”(association)	0.350
CCNY	PDGFRB	psi-mi:“MI:0914”(association)	0.350
CHID1	HTRA2	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CTDSP2	NPR2	psi-mi:“MI:0914”(association)	0.350
DYNLT4	NPR1	psi-mi:“MI:0914”(association)	0.350
EDEM2	HIGD1C	psi-mi:“MI:0914”(association)	0.350
FBXL15	NPR2	psi-mi:“MI:0914”(association)	0.350
FEZ1	KCNN4	psi-mi:“MI:0914”(association)	0.350
GNB1	MYO9A	psi-mi:“MI:0914”(association)	0.350
HAUS4	SNAP23	psi-mi:“MI:0914”(association)	0.350
LGALS3	SDCBP	psi-mi:“MI:0914”(association)	0.350
MRAP2	A2ML1	psi-mi:“MI:0914”(association)	0.350
RIC3	QSOX1	psi-mi:“MI:0914”(association)	0.350

BioGRID (24): NPR2 (Affinity Capture-RNA), SLC5A5 (Negative Genetic), NPR2 (Negative Genetic), NPR2 (Positive Genetic), NPR2 (Positive Genetic), NPR2 (Positive Genetic), NPR2 (Positive Genetic), NUMA1 (Proximity Label-MS), NPPC (Reconstituted Complex), NPPB (Reconstituted Complex), NPPA (Reconstituted Complex), NPR2 (Affinity Capture-RNA), NPR2 (Cross-Linking-MS (XL-MS)), NPR2 (Co-fractionation), NPR2 (Co-fractionation)

ESM2 similar proteins: A0A0U1RPR8, O02740, O08644, O09127, O15197, O19179, O73875, O73878, P0C0K6, P0C0K7, P14616, P16067, P20594, P21709, P26770, P29317, P29322, P35590, P46197, P51839, P51840, P51841, P51842, P52333, P52785, P54753, P54754, P54760, P54761, P55203, P55205, Q02846, Q03146, Q06805, Q06806, Q08345, Q1KL86, Q5JZY3, Q5SDA5, Q60750

Diamond homologs: A0A078BQP2, A0A0U1RPR8, E7EAU8, H2L002, O02298, O02740, O16715, O19179, O54865, O62179, O75343, P0A4Y1, P16065, P16066, P16068, P18293, P18910, P19686, P19687, P20594, P20595, P22717, P23897, P25092, P26770, P33402, P51840, P51841, P51842, P52785, P55202, P55203, P55204, P70106, P90895, P91550, P92006, P9WQ34, P9WQ35, Q02108

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neutrophil degranulation	8	7.1×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	58
Likely pathogenic	36
Uncertain significance	401
Likely benign	166
Benign	19

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1300012	NM_003995.4(NPR2):c.1444_1449del (p.Met482_Leu483del)	Pathogenic
1333664	NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)	Pathogenic
1395420	NM_003995.4(NPR2):c.507del (p.Tyr170fs)	Pathogenic
143053	NM_003995.4(NPR2):c.2647G>A (p.Val883Met)	Pathogenic
143054	NM_003995.4(NPR2):c.1963C>T (p.Arg655Cys)	Pathogenic
143055	NM_003995.4(NPR2):c.1462G>C (p.Ala488Pro)	Pathogenic
1433253	NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)	Pathogenic
1452537	NM_003995.4(NPR2):c.60del (p.Ala22fs)	Pathogenic
1453237	NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)	Pathogenic
1454887	NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)	Pathogenic
1459715	NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)	Pathogenic
1459896	NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)	Pathogenic
1678652	NM_003995.4(NPR2):c.2842dup (p.His948fs)	Pathogenic
1683471	NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs)	Pathogenic
1693277	NM_003995.4(NPR2):c.1579C>T (p.Leu527Phe)	Pathogenic
1695394	NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)	Pathogenic
17785	NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)	Pathogenic
17786	NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)	Pathogenic
17787	NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)	Pathogenic
2025379	NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)	Pathogenic
2032731	NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)	Pathogenic
208357	NM_003995.4(NPR2):c.226T>C (p.Ser76Pro)	Pathogenic
2096788	NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)	Pathogenic
2183283	NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)	Pathogenic
2194018	NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)	Pathogenic
2577399	NM_003995.4(NPR2):c.1779C>A (p.Cys593Ter)	Pathogenic
2925446	NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)	Pathogenic
2925448	NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)	Pathogenic
2944318	NM_003995.4(NPR2):c.2738dup (p.Met913fs)	Pathogenic
3026872	NM_003995.4(NPR2):c.601C>T (p.Gln201Ter)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

6779 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:35801680:T:A	W492R	1.000
9:35801680:T:C	W492R	1.000
9:35801682:G:C	W492C	1.000
9:35801682:G:T	W492C	1.000
9:35802276:T:C	L568P	1.000
9:35802542:G:C	G584R	1.000
9:35802543:G:A	G584D	1.000
9:35802576:T:A	V595D	1.000
9:35802596:G:T	G602W	1.000
9:35802597:G:A	G602E	1.000
9:35802739:T:C	L608P	1.000
9:35802784:T:C	L623P	1.000
9:35805511:G:C	G630R	1.000
9:35805571:T:C	C650R	1.000
9:35805573:T:G	C650W	1.000
9:35805589:T:C	F656L	1.000
9:35805590:T:C	F656S	1.000
9:35805591:T:A	F656L	1.000
9:35805591:T:G	F656L	1.000
9:35805596:T:A	L658H	1.000
9:35805838:T:A	W686R	1.000
9:35805838:T:C	W686R	1.000
9:35806421:T:C	L801P	1.000
9:35806434:G:A	M805I	1.000
9:35806434:G:C	M805I	1.000
9:35806434:G:T	M805I	1.000
9:35806444:G:C	A809P	1.000
9:35806454:T:C	L812S	1.000
9:35807040:T:C	L846S	1.000
9:35807072:T:C	F857L	1.000

dbSNP variants (sampled 300 via entrez): RS1000243732 (9:35790519 C>G), RS1000358774 (9:35790121 T>C), RS1000447302 (9:35798217 T>C), RS1000579890 (9:35791882 C>A), RS1000850590 (9:35805190 A>G), RS1001130806 (9:35800279 C>T), RS1001452615 (9:35796186 T>G), RS1001483073 (9:35796593 A>G), RS1001635772 (9:35797056 T>C), RS1001774324 (9:35806179 C>T), RS1001799641 (9:35803409 A>G), RS1001946448 (9:35802638 G>A), RS1002101422 (9:35807890 C>T), RS1002370830 (9:35791559 G>A,C), RS1002486478 (9:35794801 G>A)

Disease associations

OMIM: gene MIM:108961 | disease phenotypes: MIM:602875, MIM:615923, MIM:616255, MIM:123100, MIM:616789, MIM:617116

GenCC curated gene-disease

Disease	Classification	Inheritance
acromesomelic dysplasia 1, Maroteaux type	Definitive	Autosomal recessive
tall stature-scoliosis-macrodactyly of the great toes syndrome	Strong	Autosomal dominant
short stature with nonspecific skeletal abnormalities 1	Strong	Autosomal dominant
bone disorder	Strong	Autosomal dominant

Mondo (9): acromesomelic dysplasia 1, Maroteaux type (MONDO:0011275), tall stature-scoliosis-macrodactyly of the great toes syndrome (MONDO:0014401), short stature with nonspecific skeletal abnormalities 1 (MONDO:0014551), short stature with nonspecific skeletal abnormalities (MONDO:0975810), craniosynostosis (MONDO:0015469), cardiac anomalies - developmental delay - facial dysmorphism syndrome (MONDO:0014773), epilepsy, familial focal, with variable foci 2 (MONDO:0014924), intellectual disability (MONDO:0001071), bone disorder (MONDO:0005381)

Orphanet (5): Tall stature-long halluces-multiple extra-epiphyses syndrome (Orphanet:329191), Acromesomelic dysplasia, Maroteaux type (Orphanet:40), Craniosynostosis (Orphanet:1531), Developmental delay-facial dysmorphism syndrome due to MED13L deficiency (Orphanet:369891), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

55 total (30 of 55 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000098	Tall stature
HP:0000268	Dolichocephaly
HP:0000912	Sprengel anomaly
HP:0000938	Osteopenia
HP:0001156	Brachydactyly
HP:0001166	Arachnodactyly
HP:0001230	Broad metacarpals
HP:0001249	Intellectual disability
HP:0001377	Limited elbow extension
HP:0001382	Joint hypermobility
HP:0001387	Joint stiffness
HP:0001500	Broad finger
HP:0001783	Broad metatarsal
HP:0001799	Short nail
HP:0001831	Short toe
HP:0001847	Long hallux
HP:0002007	Frontal bossing
HP:0002650	Scoliosis
HP:0002656	Epiphyseal dysplasia
HP:0002750	Delayed skeletal maturation
HP:0002808	Kyphosis
HP:0002938	Lumbar hyperlordosis
HP:0002984	Hypoplasia of the radius
HP:0002986	Radial bowing
HP:0003015	Flared metaphysis
HP:0003086	Acromesomelia
HP:0003196	Short nose
HP:0003300	Ovoid vertebral bodies

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D001847	Bone Diseases	C05.116
D003398	Craniosynostoses	C05.116.099.370.894.232; C05.660.207.240; C05.660.906.364; C16.131.621.207.240; C16.131.621.906.364
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C535661	Acromesomelic dysplasia, Maroteaux type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1795 (SINGLE PROTEIN), CHEMBL2111337 (PROTEIN FAMILY)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: catalytic receptor — Transmembrane guanylyl cyclases

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
peptide P19 [PMID: 15652659]	Antagonist	7.81	pKd
MCUF-42	Agonist	6.1	pEC50

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
10.27	IC50	0.054	nM	CHEMBL3349623
9.60	Ki	0.25	nM	CHEMBL3349651
9.54	IC50	0.29	nM	CHEMBL413432
7.44	IC50	36	nM	CHEMBL3349961
7.28	IC50	52	nM	CHEMBL3349622

PubChem BioAssay actives

5 with measured affinity, of 68 total; 5 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
(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-4-amino-2-[[(4R,10S,16S,19S,22S,28S,31S,34S,37S,40S,49S,52R)-52-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-amino-3-hydroxypropanoyl]amino]-4-methylpentanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-hydroxypropanoyl]amino]-3-hydroxypropanoyl]amino]-19-(3-amino-3-oxopropyl)-49-benzyl-28,37-bis[(2S)-butan-2-yl]-34-(carboxymethyl)-31,40-bis[3-(diaminomethylideneamino)propyl]-16-(hydroxymethyl)-22-methyl-10-(2-methylpropyl)-6,9,12,15,18,21,24,27,30,33,36,39,42,45,48,51-hexadecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35,38,41,44,47,50-hexadecazacyclotripentacontane-4-carbonyl]amino]-4-oxobutanoyl]amino]-3-hydroxypropanoyl]amino]-3-phenylpropanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-(4-hydroxyphenyl)propanoic acid	75468: Inhibitory activity against guanylate cyclase coupled receptor binding site in rabbit lung by using [125I]-ANP-(103-126)	ic50	0.0001	uM
(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-4-amino-2-[[(4R,10S,16S,19S,22S,28S,31S,34S,37S,40S,49S,52R)-52-[[(2S)-2-[[(2S)-2-amino-3-hydroxypropanoyl]amino]-3-hydroxypropanoyl]amino]-19-(3-amino-3-oxopropyl)-49-benzyl-28,37-bis[(2S)-butan-2-yl]-34-(carboxymethyl)-31,40-bis[3-(diaminomethylideneamino)propyl]-16-(hydroxymethyl)-22-methyl-10-(2-methylpropyl)-6,9,12,15,18,21,24,27,30,33,36,39,42,45,48,51-hexadecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35,38,41,44,47,50-hexadecazacyclotripentacontane-4-carbonyl]amino]-4-oxobutanoyl]amino]-3-hydroxypropanoyl]amino]-3-phenylpropanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-(4-hydroxyphenyl)propanoic acid	217856: Apparent binding constant against multiple binding sites	ki	0.0003	uM
(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-4-amino-2-[[(4S,10S,16S,19R,22S,28S,31R,34S,37R,40S,49R,52S)-52-[[(2S)-2-[[(2R)-2-amino-3-hydroxypropanoyl]amino]-3-hydroxypropanoyl]amino]-19-(3-amino-3-oxopropyl)-49-benzyl-28,37-bis[(2S)-butan-2-yl]-34-(carboxymethyl)-31,40-bis[3-(diaminomethylideneamino)propyl]-16-(hydroxymethyl)-22-methyl-10-(2-methylpropyl)-6,9,12,15,18,21,24,27,30,33,36,39,42,45,48,51-hexadecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35,38,41,44,47,50-hexadecazacyclotripentacontane-4-carbonyl]amino]-4-oxobutanoyl]amino]-3-hydroxypropanoyl]amino]-3-phenylpropanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-(4-hydroxyphenyl)propanoic acid	75468: Inhibitory activity against guanylate cyclase coupled receptor binding site in rabbit lung by using [125I]-ANP-(103-126)	ic50	0.0003	uM
(2S)-2-[[(2S)-4-amino-2-[[(4R,10S,16S,19S,22S,28S,31S,34S,37S,40S,49S,52R)-52-[[(2S)-2-[[(2S)-2-amino-3-hydroxypropanoyl]amino]-3-hydroxypropanoyl]amino]-19-(3-amino-3-oxopropyl)-49-benzyl-28,37-bis[(2S)-butan-2-yl]-34-(carboxymethyl)-31,40-bis[3-(diaminomethylideneamino)propyl]-16-(hydroxymethyl)-22-methyl-10-(2-methylpropyl)-6,9,12,15,18,21,24,27,30,33,36,39,42,45,48,51-hexadecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35,38,41,44,47,50-hexadecazacyclotripentacontane-4-carbonyl]amino]-4-oxobutanoyl]amino]-3-hydroxypropanoic acid	75468: Inhibitory activity against guanylate cyclase coupled receptor binding site in rabbit lung by using [125I]-ANP-(103-126)	ic50	0.0360	uM
2-[(4R,7S,10S,16S,19S,22S,25S,28S,37S,40R)-40-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-amino-3-hydroxypropanoyl]amino]-4-methylpentanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-hydroxypropanoyl]amino]-3-hydroxypropanoyl]amino]-7-(3-amino-3-oxopropyl)-37-benzyl-16,25-bis[(2S)-butan-2-yl]-4-carbamoyl-19,28-bis[3-(diaminomethylideneamino)propyl]-10-methyl-6,9,12,15,18,21,24,27,30,33,36,39-dodecaoxo-1,2-dithia-5,8,11,14,17,20,23,26,29,32,35,38-dodecazacyclohentetracont-22-yl]acetic acid	75468: Inhibitory activity against guanylate cyclase coupled receptor binding site in rabbit lung by using [125I]-ANP-(103-126)	ic50	0.0520	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression	7
Estradiol	affects binding, increases expression, affects cotreatment, increases reaction, affects expression	3
Tamoxifen	decreases expression, affects expression, affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation	2
Raloxifene Hydrochloride	affects expression, affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases activity, increases expression, affects binding	1
bisphenol A	decreases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
trichostatin A	decreases expression	1
afimoxifene	decreases response to substance	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	decreases methylation	1
nickel sulfate	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
rofecoxib	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases methylation	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Acrolein	increases expression, affects cotreatment	1
Carbamazepine	affects expression	1

ChEMBL screening assays

11 unique, capped per target: 11 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5162508	Binding	Agonist activity at NPRB in human HeLa cells assessed as increased cGMP formation at 10 uM incubated for 30 mins in presence of IBMX by ELISA	A Series of Substituted Bis-Aminotriazines Are Activators of the Natriuretic Peptide Receptor C. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_VE78	PFIZi030-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00722436	PHASE4	TERMINATED	Tranexamic Acid for Craniofacial Surgery
NCT02188576	PHASE4	COMPLETED	The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02229968	PHASE2	ACTIVE_NOT_RECRUITING	Efficacy of Amicar for Children Having Craniofacial Surgery
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00912119	PHASE1	COMPLETED	Amicar Pharmacokinetics of Children Having Craniofacial Surgery
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT01166854	Not specified	RECRUITING	Characterization of Familial Myopathy and Paget Disease of Bone
NCT03527511	Not specified	COMPLETED	Effect of Active Vitamin D and Etelcalcetide on Human Osteoclasts in Patients With Chronic Kidney Disease
NCT06444503	Not specified	RECRUITING	Clinico-biological Collection of Bone, Calcium and Growth Plate Pathologies
NCT00077831	Not specified	COMPLETED	Child and Infant Learning Project
NCT00106977	Not specified	COMPLETED	Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
NCT00367796	Not specified	COMPLETED	Genetic Analysis of Craniosynostosis, Philadelphia Type
NCT00769847	Not specified	WITHDRAWN	Endoscopic Treatment for Isolated, Single Suture Craniosynostosis
NCT00773643	Not specified	COMPLETED	Osteogenic Profiling of Tissue From Children With Craniosynostosis
NCT01898650	Not specified	COMPLETED	MRI for Non-invasive Evaluation of Brain Stress
NCT02287805	Not specified	COMPLETED	Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care
NCT02561728	Not specified	WITHDRAWN	Hanger Helmet Study
NCT03025763	Not specified	ACTIVE_NOT_RECRUITING	Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
NCT03231085	Not specified	COMPLETED	Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child
NCT04704284	Not specified	COMPLETED	Comparing MRI to CT on Pediatric Craniosynostosis.
NCT05911139	Not specified	ENROLLING_BY_INVITATION	Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy
NCT06928727	Not specified	RECRUITING	Ocular Characteristics in Patients With Craniosynostosis
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills