rs1926447

This is a variant in the CPB2 gene that changes a isoleucine to an threonine.

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GWAS Catalog Trait Associations (12)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

MAP kinase-activated protein kinase 3 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele A
OR 1.10
p 2.0e-145
N 997
Small GWAS
multi-ancestry
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele A
OR 0.94
p 7.0e-30
N 466
Small GWAS
African American or Afro-Caribbean

NKG2D ligand 4 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR —
β 0.430
p 5.0e-58
N 3,301
Large GWAS
European

carboxypeptidase B2 amount

Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele A
OR 0.51
p 3.0e-45
N 1,255
Large GWAS
multi-ancestry

serine/threonine-protein kinase Chk1 measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele G
OR 1.13
p 3.0e-32
N 198
Small GWAS
European

level of pirin in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele G
OR 0.89
p 2.0e-26
N 466
Small GWAS
African American or Afro-Caribbean

level of CD164 sialomucin-like 2 protein in blood

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele G
OR 0.89
p 8.0e-18
N 198
Small GWAS
European

UPF0488 protein C8orf33 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele G
OR 0.22
p 3.0e-16
N 3,301
Large GWAS
European

macrophage migration inhibitory factor level

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele A
OR 0.35
p 1.0e-12
N 997
Small GWAS
multi-ancestry
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ClinVar annotation

Benign
1 submitter

CPB2-related disorder

View on ClinVar →
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Research that mentions this SNP (2)

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A common and functional gene variant in the vascular endothelial growth factor a predicts clinical outcome in early‐stage breast cancer
ReviewGudrun Absenger et al.(2013)· Molecular Carcinogenesis

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

Traits studied:Acute myeloid leukemiaBladder cancerBreast cancerChemotherapy responseChronic lymphocytic leukemiaColorectal cancerDisease-free survivalEsophageal cancerFollicular lymphomaGallbladder cancerGlioblastomaHead and neck cancerLymphomaMyelodysplastic syndromesNon-small cell lung cancer (NSCLC)Overall survivalPrimary mediastinal B-cell lymphomaProgression-free survivalProstate cancerRenal cell carcinoma
PubMedDOIMetascience Observatory
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Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese
ReviewChenli Xie et al.(2013)· Molecular Carcinogenesis

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

Traits studied:Acute lymphoblastic leukemiaAcute myeloid leukemiaBladder cancerBreast cancerChronic lymphocytic leukemiaChronic myeloid leukemiaChronic myelomonocytic leukemiaColorectal cancerFollicular lymphomaGastric cancerGastrointestinal stromal tumorsGlioblastomaHepatocellular carcinomaHodgkin lymphomaLung cancerMultiple myelomaMyelodysplastic syndromesMyxofibrosarcomasNon-small cell lung cancerPrimary mediastinal B-cell lymphomaProstate cancer
DOIMetascience Observatory

About CPB2

Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

View all CPB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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