Literature summary for 4.6.1.2 extracted from

Dickey, D.M.; Edmund, A.B.; Otto, N.M.; Chaffee, T.S.; Robinson, J.W.; Potter, L.R.
Catalytically active guanylyl cyclase B requires endoplasmic reticulum-mediated glycosylation, and mutations that inhibit this process cause dwarfism (2016), J. Biol. Chem., 291, 11385-11393 .

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Protein Variants

Protein Variants	Comment	Organism
G959A	missense mutation, mutant binds C-type natriuretic peptide on the surface of cells but fails to synthesize cGMP in membrane guanylate cyclase assays. Mutant protein is dephosphorylated and incompletely glycosylated	Homo sapiens
L658F	missense mutation, mutant binds C-type natriuretic peptide on the surface of cells but fails to synthesize cGMP in membrane guanylate cyclase assays. Mutant protein is dephosphorylated and incompletely glycosylated	Homo sapiens
R776W	missense mutation, mutant binds C-type natriuretic peptide on the surface of cells but fails to synthesize cGMP in membrane guanylate cyclase assays. Mutant protein is dephosphorylated and incompletely glycosylated	Homo sapiens
Y708C	missense mutation, mutant binds C-type natriuretic peptide on the surface of cells but fails to synthesize cGMP in membrane guanylate cyclase assays. Mutant protein is dephosphorylated and incompletely glycosylated	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
plasma membrane	-	Homo sapiens	5886	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P20594	-	-

Posttranslational Modification

Posttranslational Modification	Comment	Organism
glycoprotein	-	Homo sapiens

Synonyms

Synonyms	Comment	Organism
atrial natriuretic peptide receptor 2	-	Homo sapiens
NPR2	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	endoplasmic reticulum-mediated glycosylation is required for the formation of an active catalytic domain, and mutations that inhibit this process cause dwarfism	Homo sapiens

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Release 2023.1 (January 2023)