Homo sapiens Protein: NPR2
Summary
InnateDB Protein IDBP-64129.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NPR2
Protein Name natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)
Synonyms AMDM; ANPb; ANPRB; ECDM; GUC2B; GUCY2B; NPRB; NPRBi;
Species Homo sapiens
Ensembl Protein ENSP00000341083
InnateDB Gene IDBG-64127 (NPR2)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:15146390, ECO:0000269PubMed:1672777}.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Acromesomelic dysplasia, Maroteaux type (AMDM) [MIM:602875]: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders 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). AMDM is characterized by axial skeletal involvement with wedging of vertebral bodies. In AMDM all skeletal elements are present but show abnormal rates of linear growth. {ECO:0000269PubMed:15146390}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004383 guanylate cyclase activity
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004872 receptor activity
GO:0004888 transmembrane signaling receptor activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0016849 phosphorus-oxygen lyase activity
GO:0016941 natriuretic peptide receptor activity
GO:0017046 peptide hormone binding
GO:0042562 hormone binding
GO:0042802 identical protein binding
Biological Process
GO:0001503 ossification
GO:0006182 cGMP biosynthetic process
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0008217 regulation of blood pressure
GO:0009190 cyclic nucleotide biosynthetic process
GO:0035556 intracellular signal transduction
GO:0044702 single organism reproductive process
GO:0051447 negative regulation of meiotic cell cycle
GO:0060348 bone development
GO:0097011 cellular response to granulocyte macrophage colony-stimulating factor stimulus
GO:1900194 negative regulation of oocyte maturation
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000719 Protein kinase domain
IPR001054 Adenylyl cyclase class-3/4/guanylyl cyclase
IPR001170 Natriuretic peptide receptor
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR001828 Extracellular ligand-binding receptor
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain
IPR028082 Periplasmic binding protein-like I
IPR029787 Nucleotide cyclase
PFAM PF00069
PF00211
PF07714
PF01094
PRINTS PR00255
PR00109
PIRSF
SMART SM00044
SM00220
SM00219
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P20594
PhosphoSite PhosphoSite-P20594
TrEMBL
UniProt Splice Variant
Entrez Gene 4882
UniGene Hs.78518
RefSeq NP_003986
HUGO HGNC:7944
OMIM 108961
CCDS CCDS6590
HPRD 00166
IMGT
EMBL AB005647 AJ005282 AL133410 BC023017 CH471071 EU326311
GenPept AAH23017 ACA05920 ACA05921 BAA81737 CAA06466 CAI10987 EAW58337 EAW58338 EAW58339 EAW58340