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	11330
Gene name	Chymotrypsin C
Gene symbol	CTRC
Synonyms (NCBI Gene)	CLCRELA4
Chromosome	1
Chromosome location	1p36.21
Summary	This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has no

Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909293	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, risk-factor	Missense variant, coding sequence variant
rs121909294	G>A,T	Pathogenic, risk-factor	Stop gained, missense variant, coding sequence variant
rs140993290	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs142560329	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs183053579	G>A,T	Likely-pathogenic	Intron variant
rs200678111	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs202058123	G>A,C	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs515726210	CAAGAAGCCGGTAGTCTACACCCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs747905422	C>T	Pathogenic	Stop gained, coding sequence variant
rs766917452	G>C,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs772436044	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs773119534	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553134935	CATCG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557508272	G>T	Likely-pathogenic	Splice acceptor variant
rs1570783505	A>G	Likely-pathogenic	Splice acceptor variant
rs1570784592	AG>TGGC	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT495058	hsa-miR-320a	PAR-CLIP	22291592
MIRT495057	hsa-miR-320b	PAR-CLIP	22291592
MIRT495056	hsa-miR-320c	PAR-CLIP	22291592
MIRT495055	hsa-miR-320d	PAR-CLIP	22291592
MIRT495054	hsa-miR-4429	PAR-CLIP	22291592
MIRT495053	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT495052	hsa-miR-6827-5p	PAR-CLIP	22291592
MIRT495051	hsa-miR-7156-3p	PAR-CLIP	22291592
MIRT495050	hsa-miR-1301-3p	PAR-CLIP	22291592
MIRT495049	hsa-miR-5047	PAR-CLIP	22291592
MIRT495058	hsa-miR-320a	PAR-CLIP	23708386
MIRT495057	hsa-miR-320b	PAR-CLIP	23708386
MIRT495056	hsa-miR-320c	PAR-CLIP	23708386
MIRT495055	hsa-miR-320d	PAR-CLIP	23708386
MIRT495054	hsa-miR-4429	PAR-CLIP	23708386
MIRT495053	hsa-miR-505-5p	PAR-CLIP	23708386
MIRT495052	hsa-miR-6827-5p	PAR-CLIP	23708386
MIRT495051	hsa-miR-7156-3p	PAR-CLIP	23708386
MIRT495050	hsa-miR-1301-3p	PAR-CLIP	23708386
MIRT495049	hsa-miR-5047	PAR-CLIP	23708386
MIRT495058	hsa-miR-320a	PAR-CLIP	22291592
MIRT495057	hsa-miR-320b	PAR-CLIP	22291592
MIRT495056	hsa-miR-320c	PAR-CLIP	22291592
MIRT495055	hsa-miR-320d	PAR-CLIP	22291592
MIRT495054	hsa-miR-4429	PAR-CLIP	22291592
MIRT495053	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT495052	hsa-miR-6827-5p	PAR-CLIP	22291592
MIRT495051	hsa-miR-7156-3p	PAR-CLIP	22291592
MIRT495050	hsa-miR-1301-3p	PAR-CLIP	22291592
MIRT495049	hsa-miR-5047	PAR-CLIP	22291592
MIRT495058	hsa-miR-320a	PAR-CLIP	23708386
MIRT495057	hsa-miR-320b	PAR-CLIP	23708386
MIRT495056	hsa-miR-320c	PAR-CLIP	23708386
MIRT495055	hsa-miR-320d	PAR-CLIP	23708386
MIRT495054	hsa-miR-4429	PAR-CLIP	23708386
MIRT495053	hsa-miR-505-5p	PAR-CLIP	23708386
MIRT495052	hsa-miR-6827-5p	PAR-CLIP	23708386
MIRT495051	hsa-miR-7156-3p	PAR-CLIP	23708386
MIRT495050	hsa-miR-1301-3p	PAR-CLIP	23708386
MIRT495049	hsa-miR-5047	PAR-CLIP	23708386

Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183, 33961781
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	8635596
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	8635596
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	8635596
GO:0008233	Function	Peptidase activity	IDA	8635596
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	TAS	8635596
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
601405	2523	ENSG00000162438

Q99895

Protein name

Chymotrypsin-C (EC 3.4.21.2) (Caldecrin)

Protein function

Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity.

PDB

4H4F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00089	Trypsin	30 → 262	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Pancreas.

Sequence

MLGITVLAALLACASSCGVPSFPPNLSARVVGGEDARPHSWPWQISLQYLKNDTWRHTCG
GTLIASNFVLTAAHCISNTRTYRVAVGKNNLEVEDEEGSLFVGVDTIHVHKRWNALLLRN
DIALIKLAEHVELSDTIQVACLPEKDSLLPKDYPCYVTGWGRLWTNGPIADKLQQGLQPV
VDHATCSRIDWWGFRVKKTMVCAGGDGVISACNGDSGGPLNCQLENGSWEVFGIVSFGSR
RGCNTRKKPVVYTRVSAYIDWINEKMQL

Sequence length

268

Interactions

View interactions

	Reactome
			Cobalamin (Cbl, vitamin B12) transport and metabolism

590

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chronic pancreatitis	Likely pathogenic	rs1553134935	RCV000626905
Hereditary pancreatitis	Pathogenic; Likely pathogenic	rs515726210, rs1168572368, rs753459089, rs1708190814, rs761774161, rs2526290117, rs767242562, rs1455019932, rs121909294, rs2526297384, rs1290349619, rs2526289681, rs754640545, rs1557508272, rs747905422, rs766917452, rs1570784592 View all (2 more)	RCV000119046 RCV002351066 RCV002349971 RCV002353918 RCV002359858 RCV002395086 RCV002408256 RCV002435646 RCV000119047 RCV003120297 RCV003305778 RCV003382243 RCV004517329 RCV000704581 RCV000698829 RCV000821957 RCV005234398
Pancreatitis, chronic, susceptibility to	Pathogenic	rs515726210, rs121909294	RCV002267727 RCV000008659

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs497078	RCV005892864
Colorectal cancer	Benign	rs497078	RCV005892866
CTRC-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs183658182, rs200678111, rs140059353, rs770471626, rs183053579, rs199736095, rs773334021, rs202049497	RCV003982975 RCV003417831 RCV003949971 RCV003983412 RCV004730965 RCV003955642 RCV003943314 RCV003973185
Malignant lymphoma, large B-cell, diffuse	Benign	rs497078	RCV005892865
Thymoma	Benign	rs497078	RCV005892868
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs200576965	RCV005901746
Uterine carcinosarcoma	Benign	rs497078	RCV005892867
Uterine corpus endometrial carcinoma	Benign	rs117858254	RCV005921518

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	31605106
Cerebral Palsy Ataxic Autosomal Recessive	Associate	19096130
Cleft Palate	Associate	32240833
Cystic Fibrosis	Associate	25636364
Diabetes Mellitus	Associate	30277669
Gastritis	Associate	37962678
Genetic Diseases Inborn	Associate	26376395
Hereditary pancreatitis	Associate	22539344, 23455445, 23601753, 27129265, 37603299
Liver Diseases	Associate	31605106
Pain	Associate	39674387
Pancreatic Neoplasms	Associate	21460362, 29154238, 39674387
Pancreatitis	Associate	16505482, 18059268, 22942235, 23951356, 24413785, 25636364, 26100556, 26376395, 27578509, 28095786, 29669919, 32014997, 35226426, 39172977, 39738564
Pancreatitis Chronic	Associate	18059268, 22942235, 23455445, 23951356, 24260417, 24413785, 25636364, 28502372, 28754779, 30277669, 30420730, 35974416, 37389024, 38334943, 39765393, 40428425 View all (1 more)
Pulmonary Disease Chronic Obstructive	Associate	40343765
Tropical Calcific Pancreatitis	Associate	18059268

CTRC (chymotrypsin C)