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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
151463902004Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.82
220393542011Mendelian randomization study of B-type natriuretic peptide and type 2 diabetes: evidence of causal association from population studies.36
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
228702952012An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.28
240017442013Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature.27
159110702005C-type natriuretic peptide and guanylyl cyclase B receptor.26
194580862009A familial mutation renders atrial natriuretic Peptide resistant to proteolytic degradation.22
159116102005ATP-independent activation of natriuretic peptide receptors.21
176522152007Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.21

Citation

Dessen P

NPR2 (natriuretic peptide receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43383/npr2