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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CPA2
carboxypeptidase A2
Chromosome 7 · 7q32.2
NCBI Gene: 1358Ensembl: ENSG00000158516.12HGNC: HGNC:2297UniProt: P48052
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular regionmetallocarboxypeptidase activityzinc ion bindingcarboxypeptidase activityexostosisdrug allergyearly-onset non-syndromic cataractCataract-microcornea syndrome
✦AI Summary

CPA2 (carboxypeptidase A2) encodes a zinc-dependent metallocarboxypeptidase that catalyzes the removal of C-terminal amino acids from proteins, with preference for large aromatic residues 1. The enzyme belongs to the A/B subfamily of metallocarboxypeptidases and shares 60% amino acid sequence identity with CPA1 1. CPA2 is located in a gene cluster with other carboxypeptidase genes (CPA1, CPA4, CPA5) on chromosome 7 1. The protein functions as an extracellular enzyme involved in proteolysis and protein catabolism. Clinical significance of CPA2 is primarily related to pancreatic diseases. While variants in CPA2 are not associated with chr7 pancreatitis 2, rare variants show strong association with acute pancreatitis in patients with acute lymphoblastic leukemia receiving asparaginase therapy. Specifically, a rare nonsense variant (rs199695765) confers extremely high risk for asparaginase-induced pancreatitis (hazard ratio 587) 3. Gene-level analysis revealed an excess of CPA2 variants in pancreatitis patients, with 13 of 24 carriers of risk variants developing the condition 3. This makes CPA2 a critical genetic risk factor for treatment-related pancreatitis in leukemia patients.

Sources cited
1
CPA2 encodes a zinc-dependent metallocarboxypeptidase with preference for aromatic C-terminal residues and belongs to A/B subfamily
PMID: 11836249
2
CPA2 variants are not associated with chronic pancreatitis
PMID: 26316592
3
Rare CPA2 variants, particularly rs199695765, are strongly associated with asparaginase-induced acute pancreatitis in leukemia patients
PMID: 27114598
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
exostosisOpen Targets
0.23Weak
drug allergyOpen Targets
0.21Weak
early-onset non-syndromic cataractOpen Targets
0.07Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
Total congenital cataractOpen Targets
0.06Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
early-onset zonular cataractOpen Targets
0.06Suggestive
Partial congenital cataractOpen Targets
0.05Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
isolated ectopia lentisOpen Targets
0.05Suggestive
early-onset nuclear cataractOpen Targets
0.05Suggestive
pulverulent cataractOpen Targets
0.05Suggestive
gastric carcinomaOpen Targets
0.05Suggestive
Female infertility due to fertilization defectOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
Anterior polar cataractOpen Targets
0.05Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.04Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.04Suggestive
mixed connective tissue diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PGA4Shared pathway100%PGA3Shared pathway100%CAPN14Shared pathway100%CTRB2Shared pathway100%CAPN8Shared pathway100%PRSS48Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
68%
Ovary
57%
Lung
14%
Heart
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CPA2PGA4PGA3CAPN14CTRB2CAPN8PRSS48
PROTEIN STRUCTURE
Preparing viewer…
PDB1DTD · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.75–1.28]
RankingsWhere CPA2 stands among ~20K protein-coding genes
  • #12,763of 20,598
    Most Researched26
  • #13,510of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedCPA2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comparing virtual reality and balance training effects on postural strategies during ball kicking in soccer players with chronic ankle instability.
PMID: 39733187
Sci Rep · 2024
1.00
2
Variants in pancreatic carboxypeptidase genes CPA2 and CPB1 are not associated with chronic pancreatitis.
PMID: 26316592
Am J Physiol Gastrointest Liver Physiol · 2015
0.90
3
Evolutionary origins of eukaryotic sodium/proton exchangers.
PMID: 15643048
Am J Physiol Cell Physiol · 2005
0.80
4
Identification and characterization of three members of the human metallocarboxypeptidase gene family.
PMID: 11836249
J Biol Chem · 2002
0.70
5
Broad phylogenetic analysis of cation/proton antiporters reveals transport determinants.
PMID: 30310075
Nat Commun · 2018
0.60