Identity
HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
AMDM,ANPRB,ANPb,ECDM,GC-B,GCB,GUC2B,GUCY2B,NPRB,NPRBi,SNSK
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4882
MIM: 108961
HGNC: 7944
Ensembl: ENSG00000159899
Variants:
dbSNP: 4882
ClinVar: 4882
TCGA: ENSG00000159899
COSMIC: NPR2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000159899 | ENST00000342694 | P20594 |
| ENSG00000159899 | ENST00000421267 | H7C1A1 |
| ENSG00000159899 | ENST00000447210 | H7C056 |
| ENSG00000159899 | ENST00000448821 | H7C1X0 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37501190 | 2023 | Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH. | 1 |
| 37501190 | 2023 | Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH. | 1 |
| 34565054 | 2022 | NPR2 gene variants in familial short stature: a single-center study. | 2 |
| 35455946 | 2022 | Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature. | 3 |
| 35741827 | 2022 | Heterozygous NPR2 Variants in Idiopathic Short Stature. | 2 |
| 36322898 | 2022 | Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux. | 0 |
| 34565054 | 2022 | NPR2 gene variants in familial short stature: a single-center study. | 2 |
| 35455946 | 2022 | Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature. | 3 |
| 35741827 | 2022 | Heterozygous NPR2 Variants in Idiopathic Short Stature. | 2 |
| 36322898 | 2022 | Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux. | 0 |
| 33073519 | 2021 | A new family with epiphyseal chondrodysplasia type Miura. | 1 |
| 33205215 | 2021 | Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH. | 9 |
| 33288834 | 2021 | Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience. | 2 |
| 34162036 | 2021 | Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants. | 0 |
| 33073519 | 2021 | A new family with epiphyseal chondrodysplasia type Miura. | 1 |
Citation
Dessen P
NPR2 (natriuretic peptide receptor 2)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43383/npr2
