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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CTRC
chymotrypsin C
Chromosome 1 Β· 1p36.21
NCBI Gene: 11330Ensembl: ENSG00000162438.12HGNC: HGNC:2523UniProt: Q99895
59PubMed Papers
21Diseases
0Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
proteolysisintracellular calcium ion homeostasisprotein bindingpeptidase activityhereditary chronic pancreatitischronic pancreatitisalcoholic pancreatitisnon-alcoholic pancreatitis
✦AI Summary

CTRC (chymotrypsin C) is a serine-type endopeptidase that regulates pancreatic enzyme activation through targeted proteolysis of trypsinogens and procarboxypeptidases 1. The enzyme exhibits chymotrypsin-type protease activity and contributes to intracellular calcium ion homeostasis 1. CTRC functions as a disease-predisposing gene rather than a disease-causing gene in chr1 pancreatitis (CP) pathogenesis 2. Pathogenic and likely-pathogenic variants in CTRC are identified in approximately 37.1% of CP patients in European Russian populations 3, with variants such as c.180C>T, c.760C>T, and c.738_761del24 demonstrating elevated odds ratios for disease development 3. CTRC variants significantly influence the age of disease onset and clinical outcomes including pancreatic stones, diabetes mellitus, and steatorrhea, with mutation-positive patients showing earlier median disease onset than mutation-negative patients 4. The gene is typically implicated in oligogenic disease where multiple genetic variants interact with environmental factors (alcohol, smoking) to precipitate disease 15. Clinical interpretation of CTRC variants requires functional evidence and comparison of allelic frequencies between affected and control populations 6. CTRC represents one of the four major genetic risk factors for idiopathic chr1 pancreatitis 1.

Sources cited
1
CTRC pathogenic genotypes significantly influence age of CP onset and clinical outcomes including pancreatic stones, diabetes mellitus, and steatorrhea
PMID: 30420730
2
CTRC is classified as a CP-predisposing gene rather than CP-causing gene in variant classification frameworks
PMID: 35974416
3
CTRC is one of four major pancreatitis genes; mutations contribute to oligogenic disease with gene-gene interactions
PMID: 23951356
4
CTRC pathogenic variants identified in 37.1% of CP patients; specific variants (c.180C>T, c.760C>T, c.738_761del24) have elevated odds ratios for CP development
PMID: 37389024
5
CTRC genetic variations represent risk factors for recurrent acute and chronic pancreatitis, with multiple genetic-environmental interactions
PMID: 21844754
6
Clinical interpretation of CTRC variants requires functional evidence and comparison of allelic frequencies in patient versus control populations
PMID: 32948427
Disease Associationsβ“˜21
hereditary chronic pancreatitisOpen Targets
0.76Strong
chronic pancreatitisOpen Targets
0.76Strong
alcoholic pancreatitisOpen Targets
0.42Moderate
non-alcoholic pancreatitisOpen Targets
0.35Weak
acute pancreatitisOpen Targets
0.35Weak
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.04Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.04Suggestive
spondyloepimetaphyseal dysplasia, Missouri typeOpen Targets
0.04Suggestive
acromesomelic dysplasia 2C, Hunter-Thompson typeOpen Targets
0.03Suggestive
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.03Suggestive
Fuhrmann syndromeOpen Targets
0.03Suggestive
mucous membrane pemphigoidOpen Targets
0.03Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.03Suggestive
tibial aplasia-ectrodactyly syndromeOpen Targets
0.03Suggestive
acromesomelic dysplasia 2AOpen Targets
0.03Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.03Suggestive
visceral myopathy 2Open Targets
0.03Suggestive
coxopodopatellar syndromeOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
Pancreatitis, hereditaryUniProt
Pathogenic Variants17
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)Pathogenic
Hereditary pancreatitis|not specified|not provided|Pancreatitis, chronic, susceptibility to
β˜…β˜…β˜†β˜†2025β†’ Residue 247
NM_007272.3(CTRC):c.494-1G>CPathogenic
Hereditary pancreatitis
β˜…β˜…β˜†β˜†2024
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter)Pathogenic
Hereditary pancreatitis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 29
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)Pathogenic
Hereditary pancreatitis
β˜…β˜…β˜†β˜†2023β†’ Residue 174
NM_007272.3(CTRC):c.190_193del (p.Ile64fs)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2025β†’ Residue 64
NM_007272.3(CTRC):c.576_588del (p.Trp191_Trp192insTer)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2024β†’ Residue 191
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs)Likely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2023β†’ Residue 82
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)Likely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2023β†’ Residue 43
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)Likely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2022β†’ Residue 155
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)Likely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2022β†’ Residue 1
NM_007272.3(CTRC):c.57dup (p.Pro20fs)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2021β†’ Residue 20
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2021β†’ Residue 55
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)Pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2020β†’ Residue 126
NM_007272.3(CTRC):c.133-1G>TLikely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2018
NM_007272.3(CTRC):c.627dup (p.Ser210fs)Likely pathogenic
Hereditary pancreatitis
β˜…β˜†β˜†β˜†2017β†’ Residue 210
NM_007272.3(CTRC):c.699_703del (p.Ile234fs)Likely pathogenic
Chronic pancreatitis
β˜…β˜†β˜†β˜†2017β†’ Residue 234
View on ClinVar β†—
Related Genes
CELA3BProtein interaction97%CELProtein interaction93%CLPSProtein interaction93%CPA2Protein interaction93%PNLIPRP1Protein interaction93%PPYProtein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
90%
Ovary
77%
Lung
63%
Brain
39%
Heart
9%
Gene Interaction Network
Click a node to explore
CTRCCELA3BCELCLPSCPA2PNLIPRP1PPY
PROTEIN STRUCTURE
Preparing viewer…
PDB4H4F Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.15LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.64–1.15]
RankingsWhere CTRC stands among ~20K protein-coding genes
  • #7,757of 20,598
    Most Researched59
  • #2,353of 5,498
    Most Pathogenic Variants17
  • #11,930of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedCTRC
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.
PMID: 30420730
Clin Transl Gastroenterol Β· 2018
1.00
2
Expanding ACMG variant classification guidelines into a general framework.
PMID: 35974416
Hum Genomics Β· 2022
0.90
3
Sport concussion assessment toolβ„’ - 6 (SCAT6).
PMID: 37316203
Br J Sports Med Β· 2023
0.80
4
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
PMID: 26799652
Autophagy Β· 2016
0.70
5
PMID: 24624459
0.60