NPR2 (natriuretic peptide receptor 2)

2006-10-01  

Identity

HGNC
NPR2
LOCATION
9p13.3
LOCUSID
4882
ALIAS
AMDM,ANPRB,ANPb,ECDM,GC-B,GCB,GUC2B,GUCY2B,NPRB,NPRBi,SNSK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4882
MIM: 108961
HGNC: 7944
Ensembl: ENSG00000159899

Variants:

dbSNP: 4882
ClinVar: 4882
TCGA: ENSG00000159899
COSMIC: NPR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159899ENST00000342694P20594
ENSG00000159899ENST00000421267H7C1A1
ENSG00000159899ENST00000447210H7C056
ENSG00000159899ENST00000448821H7C1X0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cGMP signalingKEGGhsa_M00694
cGMP signalingKEGGM00694
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Physiological factorsREACTOMER-HSA-5578768

References

Pubmed IDYearTitleCitations
375011902023Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.1
375011902023Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.1
345650542022NPR2 gene variants in familial short stature: a single-center study.2
354559462022Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.3
357418272022Heterozygous NPR2 Variants in Idiopathic Short Stature.2
363228982022Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.0
345650542022NPR2 gene variants in familial short stature: a single-center study.2
354559462022Novel NPR2 Gene Mutations Affect Chondrocytes Function via ER Stress in Short Stature.3
357418272022Heterozygous NPR2 Variants in Idiopathic Short Stature.2
363228982022Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.0
330735192021A new family with epiphyseal chondrodysplasia type Miura.1
332052152021Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.9
332888342021Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.2
341620362021Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.0
330735192021A 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