NPR2 Chromosome 9
Natriuretic peptide receptor 2
Upload your DNA to see your personal genotypes for variants in NPR2.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Transmembrane guanylate cyclases|DENN domain containing"
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000159899
Associated Conditions (19)
Acromesomelic dysplasia 1
Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
NPR2-related disorder
Short stature with nonspecific skeletal abnormalities 1
Inborn genetic diseases
Colon adenocarcinoma
Short stature with nonspecific skeletal abnormalities
Epilepsy
familial focal
with variable foci 2
Growth delay
Limb undergrowth
Trident hand
Craniosynostosis syndrome
Short stature
Intellectual disability
Monogenic short statue
Disproportionate short stature
Key Variants
RS115369552
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS1303913631
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS138254005
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS140014632
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS146546770
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS150393424
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS1828117923
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS191155989
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS199798952
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS200129431
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
RS2132066800
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1
Health Risk
RS2132089495
Conflicting classifications of pathogenicity
Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370158184 | Health Risk | Likely pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1, Maroteaux type |
| RS753644648 | Health Risk | Likely pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS756858649 | Health Risk | Likely pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS757744435 | Health Risk | Likely pathogenic | Growth delay, Limb undergrowth, Trident hand |
| RS773934765 | Health Risk | Likely pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS796065356 | Health Risk | Likely pathogenic | Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities |
| RS886042851 | Health Risk | Likely pathogenic | — |
| RS897171604 | Health Risk | Likely pathogenic | Inborn genetic diseases, NPR2-related disorder, Inborn genetic diseases |
| RS1057519333 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1057519334 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1057519335 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1057519336 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1180840764 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1, Maroteaux type |
| RS121912739 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1282365060 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1452208078 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1554674642 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1563988849 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1588068987 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1, Maroteaux type |
| RS1827867580 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1828094222 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1828106198 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS1828107536 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1828226013 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS1828356952 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS2132066003 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2132066161 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS2132066904 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2132081428 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2132082177 | Health Risk | Pathogenic | Disproportionate short stature, Disproportionate short stature |
| RS2132082975 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2132090998 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1, Maroteaux type |
| RS2132101022 | Health Risk | Pathogenic | Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities |
| RS2491029660 | Health Risk | Pathogenic | Short stature with nonspecific skeletal abnormalities, Short stature with nonspecific skeletal abnormalities |
| RS2491031578 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2491049875 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2491053131 | Health Risk | Pathogenic | NPR2-related disorder, NPR2-related disorder |
| RS2491063751 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2491075513 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS2491077769 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS28929479 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS28931582 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS371946199 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS587777595 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS587777596 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS587777597 | Health Risk | Pathogenic | Tall stature-scoliosis-macrodactyly of the great toes syndrome, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS749952755 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Acromesomelic dysplasia 1 |
| RS753472316 | Health Risk | Pathogenic | Short stature with nonspecific skeletal abnormalities, Acromesomelic dysplasia 1, Maroteaux type |
| RS767258629 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |
| RS768852284 | Health Risk | Pathogenic | Acromesomelic dysplasia 1, Maroteaux type, Tall stature-scoliosis-macrodactyly of the great toes syndrome |