CORIN Chromosome 4
Corin, serine peptidase
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What This Gene Does
This gene encodes a member of the type II transmembrane serine protease class of the trypsin superfamily. Members of this family are composed of multiple structurally distinct domains. The encoded protein converts pro-atrial natriuretic peptide to biologically active atrial natriuretic peptide, a cardiac hormone that regulates blood volume and pressure. This protein may also function as a pro-brain-type natriuretic peptide convertase. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases"
Locus Type
gene with protein product
Location
4p12
Ensembl
ENSG00000145244
Associated Conditions (8)
Preeclampsia/eclampsia 5
Atrial fibrillation
Cardiomyopathy
Myocardial fibrosis
Hypertensive disorder
familial hypertrophic
30
atrial
Key Variants
RS199972616
Conflicting classifications of pathogenicity
Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
Health Risk
RS387906894
Pathogenic
Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
Health Risk
RS387906895
Pathogenic
Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5
Health Risk
RS756399499
Pathogenic
Atrial fibrillation, Cardiomyopathy, Myocardial fibrosis
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199972616 | Health Risk | Conflicting classifications of pathogenicity | Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5 |
| RS387906894 | Health Risk | Pathogenic | Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5 |
| RS387906895 | Health Risk | Pathogenic | Preeclampsia/eclampsia 5, Preeclampsia/eclampsia 5 |
| RS756399499 | Health Risk | Pathogenic | Atrial fibrillation, Cardiomyopathy, Myocardial fibrosis |