Gene table of NPR2 : natriuretic peptide receptor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NPR2	OMIM link	Number of associated genes	genes
602875	ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NPR2
616255	SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NPR2
615923	EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	NPR2

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Annotation of the gene NPR2

Associated genes in ENSEMBL

ENSG00000159899

Associated proteins - SwissProt Accession ID

P20594

Associated PDB IDs

Cytogenetic Band

9p13.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
cGMP-PKG signaling pathway	hsa04022	5.32
Vascular smooth muscle contraction	hsa04270	5.74
Oxytocin signaling pathway	hsa04921	5.4
Purine metabolism	hsa00230	5.28

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
peptide hormone binding	GO:0017046	6.13
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
adenylate cyclase activity	GO:0004016	6.74
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
purine nucleoside binding	GO:0001883	2.22
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
peptide binding	GO:0042277	4.22
guanyl nucleotide binding	GO:0019001	3.73
lyase activity	GO:0016829	4.53
phosphorus-oxygen lyase activity	GO:0016849	6.6
nucleotide binding	GO:0000166	1.96
guanyl ribonucleotide binding	GO:0032561	3.73
transferase activity	GO:0016740	1.95
identical protein binding	GO:0042802	2.63
protein tyrosine kinase activity	GO:0004713	4.54
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
ATP binding	GO:0005524	2.43
GTP binding	GO:0005525	3.78
kinase activity	GO:0016301	2.93
amide binding	GO:0033218	4.14
guanylate cyclase activity	GO:0004383	7.54
ribonucleoside binding	GO:0032549	2.22
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
peptide receptor activity	GO:0001653	4.84
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
hormone binding	GO:0042562	5.53
natriuretic peptide receptor activity	GO:0016941	8.64
adenyl nucleotide binding	GO:0030554	2.4
cyclase activity	GO:0009975	6.6
organic cyclic compound binding	GO:0097159	1.05
carbohydrate derivative binding	GO:0097367	2.03
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32