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	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0006508	Process	Proteolysis	IBA	21873635
GO:0006508	Process	Proteolysis	IDA	8635596
GO:0006874	Process	Cellular calcium ion homeostasis	IDA	8635596
GO:0008233	Function	Peptidase activity	IDA	8635596
GO:0008233	Function	Peptidase activity	TAS
GO:0009235	Process	Cobalamin metabolic process	TAS

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

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hereditary pancreatitis	Hereditary pancreatitis, Hereditary chronic pancreatitis	rs113993960, rs113993959, rs75527207, rs80034486, rs121909294, rs111033565, rs111033566, rs111033567, rs267606982, rs111033568, rs104893938, rs104893939, rs387906698, rs193922659, rs397507439, rs202003805, rs121908774, rs397508198, rs397508387, rs121909034, rs397508706, rs374705585, rs148954387, rs515726210, rs199769221, rs1805177, rs797045159, rs3034796, rs1060503164, rs1554382608, rs121909005, rs369503365, rs1554089895, rs1557508272, rs747905422, rs1562898489, rs1561606446, rs766917452, rs1570784592	18059268, 22427236, 18172691, 22942235, 20625975, 28502372, 19453252, 23601753, 25569187, 22539344, 22580415
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044
Tropical pancreatitis	Tropical pancreatitis	rs191068215, rs148954387

Unknown
Disease term	Disease name	Evidence	References	Source
Pancreatitis	Pancreatitis, Pancreatitis, Chronic, Acute recurrent pancreatitis, Autosomal Dominant Hereditary Pancreatitis, Recurrent pancreatitis, NON RARE IN EUROPE: Recurrent acute pancreatitis		18059268, 25003218, 25383785	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
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
Pulmonary Disease Chronic Obstructive	Associate	40343765
Tropical Calcific Pancreatitis	Associate	18059268