CORIN

Chr 4ARAD

corin, serine peptidase

Also known as: ATC2, CMH30, CRN, Lrp4, PEE5, TMPRSS10

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Cardiomyopathy, familial hypertrophic, 30, atrialMIM #620734
AR
Preeclampsia/eclampsia 5MIM #614595
AD
UniProtPre-eclampsia/eclampsia 5
1
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.23
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.23LOEUF
pLI 0.000
Z-score 0.13
OE 0.98 (0.791.23)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.17Z-score
OE missense 1.02 (0.951.09)
608 obs / 596.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.791.23)
00.351.4
Missense OE?1.02 (0.951.09)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 53 / 54.1Missense obs/exp: 608 / 596.6Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CORIN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.