Entity Details

Primary name NPR2
Entity type gene
Source Source Link

Details

PrimaryID4882
RefseqGeneNG_009249
SymbolNPR2
Namenatriuretic peptide receptor 2
Chromosome9
Location9p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsANPRB_HUMAN

GO terms

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GOName
GO:0001503 ossification
GO:0001653 peptide receptor activity
GO:0004383 guanylate cyclase activity
GO:0004672 protein kinase activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006182 cGMP biosynthetic process
GO:0007165 signal transduction
GO:0007168 receptor guanylyl cyclase signaling pathway
GO:0008217 regulation of blood pressure
GO:0010753 positive regulation of cGMP-mediated signaling
GO:0016941 natriuretic peptide receptor activity
GO:0017046 peptide hormone binding
GO:0019934 cGMP-mediated signaling
GO:0022414 reproductive process
GO:0042562 hormone binding
GO:0042802 identical protein binding
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
GO:1903779 regulation of cardiac conduction

Diseases

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Disease IDSourceNameDescription
616255 OMIMShort stature with non-specific skeletal abnormalities (SNSK)A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities. The disease is caused by variants affecting the gene represented in this entry.
602875 OMIMAcromesomelic dysplasia, Maroteaux type (AMDM)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. The disease is caused by variants affecting the gene represented in this entry.
615923 OMIMEpiphyseal chondrodysplasia, Miura type (ECDM)An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. The disease is caused by variants affecting the gene represented in this entry.