Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10699
Gene name	Corin, serine peptidase
Gene symbol	CORIN
Synonyms (NCBI Gene)	ATC2CMH30CRNLrp4PEE5TMPRSS10
Chromosome	4
Chromosome location	4p12
Summary	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 biologi

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906894	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906895	T>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (93)

miRTarBase ID	miRNA	Experiments
MIRT904547	hsa-miR-1224-5p	CLIP-seq
MIRT904548	hsa-miR-1305	CLIP-seq
MIRT904549	hsa-miR-141	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904551	hsa-miR-200a	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904554	hsa-miR-3168	CLIP-seq
MIRT904555	hsa-miR-329	CLIP-seq
MIRT904556	hsa-miR-362-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904558	hsa-miR-382	CLIP-seq
MIRT904559	hsa-miR-3941	CLIP-seq
MIRT904560	hsa-miR-3976	CLIP-seq
MIRT904561	hsa-miR-4277	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904563	hsa-miR-4307	CLIP-seq
MIRT904564	hsa-miR-4420	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904566	hsa-miR-466	CLIP-seq
MIRT904567	hsa-miR-4672	CLIP-seq
MIRT904568	hsa-miR-4694-3p	CLIP-seq
MIRT904569	hsa-miR-4698	CLIP-seq
MIRT904570	hsa-miR-4751	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904572	hsa-miR-515-5p	CLIP-seq
MIRT904573	hsa-miR-603	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904562	hsa-miR-4291	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2386370	hsa-miR-1184	CLIP-seq
MIRT2386371	hsa-miR-1205	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT904552	hsa-miR-3065-3p	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2386372	hsa-miR-3158-5p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT2386370	hsa-miR-1184	CLIP-seq
MIRT2386371	hsa-miR-1205	CLIP-seq
MIRT2447458	hsa-miR-128	CLIP-seq
MIRT2447459	hsa-miR-27a	CLIP-seq
MIRT2447460	hsa-miR-27b	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2386372	hsa-miR-3158-5p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT2447461	hsa-miR-412	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT2447462	hsa-miR-4514	CLIP-seq
MIRT2447463	hsa-miR-4660	CLIP-seq
MIRT2447464	hsa-miR-4692	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT2447465	hsa-miR-513a-5p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT904550	hsa-miR-183	CLIP-seq
MIRT2507511	hsa-miR-218	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2678485	hsa-miR-2053	CLIP-seq
MIRT2507511	hsa-miR-218	CLIP-seq
MIRT904553	hsa-miR-3129-3p	CLIP-seq
MIRT2678486	hsa-miR-323b-3p	CLIP-seq
MIRT904557	hsa-miR-380	CLIP-seq
MIRT904565	hsa-miR-4495	CLIP-seq
MIRT904571	hsa-miR-490-3p	CLIP-seq
MIRT2678487	hsa-miR-569	CLIP-seq
MIRT904574	hsa-miR-649	CLIP-seq
MIRT2678488	hsa-miR-889	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	IEA
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	IMP	22437503
GO:0003050	Process	Regulation of systemic arterial blood pressure by atrial natriuretic peptide	ISS
GO:0004175	Function	Endopeptidase activity	IMP	20489134
GO:0004252	Function	Serine-type endopeptidase activity	IDA	10880574, 21518754, 21763278
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21518754
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007565	Process	Female pregnancy	IEA
GO:0007565	Process	Female pregnancy	IMP	22437503
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009986	Component	Cell surface	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016486	Process	Peptide hormone processing	IDA	10880574, 21518754
GO:0016486	Process	Peptide hormone processing	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035813	Process	Regulation of renal sodium excretion	IEA
GO:0035813	Process	Regulation of renal sodium excretion	ISS
GO:0044057	Process	Regulation of system process	IEA
GO:1903779	Process	Regulation of cardiac conduction	TAS

MIM	HGNC	e!Ensembl
605236	19012	ENSG00000145244

Q9Y5Q5

Protein name

Atrial natriuretic peptide-converting enzyme (EC 3.4.21.-) (Corin) (Heart-specific serine proteinase ATC2) (Pro-ANP-converting enzyme) (Transmembrane protease serine 10) [Cleaved into: Atrial natriuretic peptide-converting enzyme, N-terminal propeptide; A

Protein function

Serine-type endopeptidase involved in atrial natriuretic peptide (NPPA) and brain natriuretic peptide (NPPB) processing (PubMed:10880574, PubMed:20489134, PubMed:21288900, PubMed:21763278). Converts through proteolytic cleavage the non-functiona

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01392	Fz	139 → 248	Fz domain	Domain
PF00057	Ldl_recept_a	268 → 304	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	305 → 340	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	341 → 377	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	378 → 414	Low-density lipoprotein receptor domain class A	Repeat
PF01392	Fz	455 → 565	Fz domain	Domain
PF00057	Ldl_recept_a	578 → 614	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	653 → 689	Low-density lipoprotein receptor domain class A	Repeat
PF15494	SRCR_2	698 → 794	Scavenger receptor cysteine-rich domain	Domain
PF00089	Trypsin	802 → 1030	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart. Expressed in heart myocytes. Also expressed in pregnant uterus. Detected in blood, in plasma as well as in serum (at protein level). {ECO:0000269|PubMed:10329693, ECO:0000269|PubMed:19751717, ECO:0000269|PubM

Sequence

MKQSPALAPEERCRRAGSPKPVLRADDNNMGNGCSQKLATANLLRFLLLVLIPCICALVL
LLVILLSYVGTLQKVYFKSNGSEPLVTDGEIQGSDVILTNTIYNQSTVVSTAHPDQHVPA
WTTDASLPGDQSHRNTSACMNITHSQCQMLPYHATLTPLLSVVRNMEMEKFLKFFTYLHR
LSCYQHIMLFGCTLAFPECIIDGDDSHGLLPCRSFCEAAKEGCESVLGMVNYSWPDFLRC
SQFRNQTESSNVSRICFSPQQENGKQLLCGRGENFLCASGICIPGKLQCNGYNDCDDWSD
EAHCNCSENLFHCHTGKCLNYSLVCDGYDDCGDLSDEQNCDCNPTTEHRCGDGRCIAMEW
VCDGDHDCVDKSDEVNCSCHSQGLVECRNGQCIPSTFQCDGDEDCKDGSDEENCSVIQTS
CQEGDQRCLYNPCLDSCGGSSLCDPNNSLNNCSQCEPITLELCMNLPYNSTSYPNYFGHR
TQKEASISWESSLFPALVQTNCYKYLMFFSCTILVPKCDVNTGEHIPPCRALCEHSKERC
ESVLGIVGLQWPEDTDCSQFPEENSDNQTCLMPDEYVEECSPSHFKCRSGQCVLASRRCD
GQADCDDDSDEENCGCKERDLWECPSNKQCLKHTVICDGFPDCPDYMDEKNCSFCQDDEL
ECANHACVSRDLWCDGEADCSDSSDEWDCVTLSINVNSSSFLMVHRAATEHHVCADGWQE
ILSQLACKQMGLGEPSVTKLIQEQEKEPRWLTLHSNWESLNGTTLHELLVNGQSCESRSK
ISLLCTKQDCGRRPAARMNKRILGGRTSRPGRWPWQCSLQSEPSGHICGCVLIAKKWVLT
VAHCFEGRENAAVWKVVLGINNLDHPSVFMQTRFVKTIILHPRYSRAVVDYDISIVELSE
DISETGYVRPVCLPNPEQWLEPDTYCYITGWGHMGNKMPFKLQEGEVRIISLEHCQSYFD
MKTITTRMICAGYESGTVDSCMGDSGGPLVCEKPGGRWTLFGLTSWGSVCFSKVLGPGVY
SNVSYFVEWIKRQIYIQTFLLN

Sequence length

1042

Interactions

View interactions

	Reactome
			Physiological factors

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atrial fibrillation	Pathogenic	rs756399499	RCV003388932
Cardiomyopathy	Pathogenic	rs756399499	RCV003388932
Cardiomyopathy, familial hypertrophic, 30, atrial	Pathogenic	rs756399499	RCV003882741
Hypertensive disorder	Pathogenic	rs756399499	RCV003388932
Myocardial fibrosis	Pathogenic	rs756399499	RCV003388932
Preeclampsia/eclampsia 5	Pathogenic	rs387906894, rs387906895	RCV000023403 RCV000023404

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CORIN-related disorder	Benign; Likely benign	rs55932196, rs1033241784, rs772900157, rs372683178, rs567348021, rs545955410, rs113461950, rs61758484	RCV003973371 RCV003909322 RCV003923825 RCV003904040 RCV003934010 RCV003971752 RCV003976555 RCV003935893
Prostate cancer	Uncertain significance	rs193921036	RCV000149184
Variant of unknown significance	Uncertain significance	rs201223301	RCV000034349

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Stimulate	39191876
Adenocarcinoma of Lung	Associate	35918384
Brain Ischemia	Stimulate	24599027
Cardiomegaly	Associate	18669922, 19919978, 34846782
Cardiomyopathies	Associate	30115125
Cardiomyopathy Dilated	Associate	27890770
Cardiomyopathy Dilated	Inhibit	30518715
Cardiovascular Diseases	Associate	11082206
Critical Illness	Associate	39191876
Death	Associate	19919978
Delayed Emergence from Anesthesia	Associate	19919978
Diabetes Mellitus	Associate	39191876
Fibrosis	Associate	39191876
Heart Defects Congenital	Associate	11082206
Heart Diseases	Associate	18669922, 23372161, 25488193, 39191876
Heart Diseases	Inhibit	30148170
Heart Failure	Associate	11082206, 19919978
Heart Failure	Inhibit	21216831
Heart Failure Systolic	Associate	19919978
Hypertension	Associate	11082206, 18669922, 19919978, 23372161, 25488193, 28861913, 31856714, 32828311, 34846782, 34962054, 35699180
Hypertension	Inhibit	24828501
Kidney Diseases	Associate	39191876
Myocardial Infarction	Associate	34579647
Pre Eclampsia	Associate	24828501, 25474356, 29523263
Preeclamptic toxemia	Associate	24828501
Proteinuria	Associate	39191876
Pulmonary Disease Chronic Obstructive	Associate	35918384
Scimitar Syndrome	Associate	11082206
Ventricular Dysfunction Left	Associate	30518715

CORIN (corin, serine peptidase)