CTRC (chymotrypsin C)

Gene

• Entrez ID: 11330
• Gene name: Chymotrypsin C
• Gene symbol: CTRC
• Synonyms (NCBI Gene): CLCR, ELA4
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 601405
• HGNC: 2523
• e!Ensembl: ENSG00000162438

Protein

• UniProt ID: 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

Pathways

Reactome:

Cobalamin (Cbl, vitamin B12) transport and metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Chronic pancreatitis	Likely pathogenic	rs1553134935	RCV000626905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pancreatitis	Pathogenic; Likely pathogenic	rs515726210, rs1168572368, rs753459089, rs1708190814, rs761774161, rs2526290117, rs767242562, rs1455019932, rs121909294, rs2526297384, rs1290349619, rs2526289681, rs754640545, rs1557508272, rs747905422, rs766917452, rs1570784592	RCV000119046 RCV002351066 RCV002349971 RCV002353918 RCV002359858 RCV002395086 RCV002408256 RCV002435646 RCV000119047 RCV003120297 RCV003305778 RCV003382243 RCV004517329 RCV000704581 RCV000698829 RCV000821957 RCV005234398	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancreatitis, chronic, susceptibility to	Pathogenic	rs515726210, rs121909294	RCV002267727 RCV000008659	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HEREDITARY CHRONIC PANCREATITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTRC-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL CALCIFIC PANCREATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL PANCREATITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	26100556, 28095786, 28502372		★☆☆☆☆ Found in Text Mining only
Acute recurrent pancreatitis	Pancreatitis	ORPHANET_DG	25003218, 25383785		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	25003218		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31605106		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Hereditary Pancreatitis	Pancreatitis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Biliary hyperplasia	Biliary hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31605106	Associate	★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Choledochal Cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32240833	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	25636364, 27603351		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	25636364	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30277669	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23721890		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	37962678	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary chronic pancreatitis	Hereditary Pancreatitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	18059268, 22539344, 23455445, 23601753, 27129265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	CLINVAR_DG	18059268, 18172691, 19453252, 20625975, 22427236, 22942235, 25569187		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	ORPHANET_DG	18059268, 22539344, 23601753		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	UNIPROT_DG	18059268, 18172691, 22580415, 22942235		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	22539344, 23455445, 23601753, 27129265, 37603299	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	GENOMICS_ENGLAND_DG	28502372		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Hereditary Pancreatitis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	31605106	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23721890, 25003218		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Recurrent acute pancreatitis	Pancreatitis	Orphanet			★☆☆☆☆ Found in Text Mining only
Pancreas divisum	Pancreas divisum	BEFREE	29864067		★☆☆☆☆ Found in Text Mining only
Pancreas divisum	Pancreas divisum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23721890, 25003218		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21460362, 29154238, 39674387	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Pseudocyst	Pancreatic Pseudocyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	16505482, 18059268, 22942235, 23951356, 24413785, 25636364, 26100556, 26376395, 27578509, 28095786, 29669919, 32014997, 35226426, 39172977, 39738564	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	18059268, 20625975, 21525753, 22942235, 24522117, 25636364, 26013824, 27578509, 28502372, 31211695		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18059268		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	18059268, 22942235, 23455445, 23951356, 24260417, 24413785, 25636364, 28502372, 28754779, 30277669, 30420730, 35974416, 37389024, 38334943, 39765393, 40428425	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	LHGDN	18059268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	CTD_human_DG	18059268		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	BEFREE	19122498, 19407484, 19453252, 19951900, 20510827, 21525753, 21631589, 22580415, 22942235, 23721890, 25003218, 25636364, 26013824, 28502372, 28968289, 30420730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis, Chronic	Pancreatitis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleural effusion disorder	Pleural effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	40343765	Associate	★☆☆☆☆ Found in Text Mining only
Recurrent pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sphincter of Oddi Dyskinesia	Sphincter of Oddi Dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tropical Calcific Pancreatitis	Tropical calcific pancreatitis	Pubtator	18059268	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	ORPHANET_DG	19404200, 22580415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TROPICAL CALCIFIC PANCREATITIS	TROPICAL CALCIFIC PANCREATITIS	BEFREE	21323990, 22580415		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tropical pancreatitis	Tropical Pancreatitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations