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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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JCHAIN
joining chain of multimeric IgA and IgM
Chromosome 4 · 4q13.3
NCBI Gene: 3512Ensembl: ENSG00000132465.13HGNC: HGNC:5713UniProt: P01591
61PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hexameric IgM immunoglobulin complexsingle-stranded DNA bindingphosphatidylcholine bindingimmunoglobulin receptor bindingisolated agammaglobulinemiabreast canceragammaglobulinemia 8, autosomal dominantAutosomal recessive hyper-IgE syndrome
✦AI Summary

JCHAIN (joining chain) is a structural protein essential for assembling multimeric immunoglobulins, particularly IgM and IgA. Functionally, JCHAIN stabilizes IgM pentamers and hexamers by capping the tailpiece assembly in an amyloid-like structure, forming a nucleation unit for higher-order polymers 1. The J-chain bridges interactions between immunoglobulin Fc regions and the polymeric immunoglobulin receptor (pIgR), enabling transcytosis from vasculature to mucosal surfaces 2. Similarly, JCHAIN promotes IgA dimerization and larger polymer formation, facilitating secretory IgA immune responses 3. Clinically, JCHAIN dysregulation is implicated in multiple pathologies. In IgA nephropathy, upregulated JCHAIN in mesangial cells triggers pathological IgA1 dimerization and glomerular deposition, contributing to kidney disease progression 3. In intrahepatic cholangiocarcinoma, elevated JCHAIN marks plasma cell+ infiltration patterns associated with improved patient survival, contrasting unfavorably with macrophage-dominant immune signatures 4. In rheumatoid arthritis, JCHAIN expression identifies bone marrow long-lived plasma cells producing pathogenic anti-citrullinated autoantibodies 5. Additionally, reduced JCHAIN expression correlates with epilepsy, suggesting impaired B-cell/antibody responses in neuroinflammatory disease 6. These findings highlight JCHAIN's dual role: essential for normal humoral immunity yet potentially pathogenic when dysregulated in autoimmune and malignant conditions.

Sources cited
1
JCHAIN caps tailpiece assembly in an amyloid-like structure to stabilize IgM pentamers and bridges interaction with pIgR
PMID: 32029689
2
JCHAIN stabilizes IgM pentamers and enables binding to pIgR for transcytosis to mucosal surfaces
PMID: 33066119
3
Upregulated JCHAIN in mesangial cells triggers IgA1 dimerization and deposition in IgA nephropathy pathogenesis
PMID: 33357427
4
JCHAIN marks plasma cell+ infiltration pattern in intrahepatic cholangiocarcinoma associated with better patient survival
PMID: 39471066
5
JCHAIN expression identifies bone marrow long-lived plasma cells producing anti-citrullinated protein autoantibodies in rheumatoid arthritis
PMID: 37001434
6
JCHAIN shows low expression in epilepsy samples and associates with T-cell immune regulation
PMID: 40697415
Disease Associationsⓘ20
isolated agammaglobulinemiaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
agammaglobulinemia 8, autosomal dominantOpen Targets
0.08Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.08Suggestive
hyper-IgM syndrome type 2Open Targets
0.08Suggestive
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiencyOpen Targets
0.08Suggestive
immunodeficiency 35Open Targets
0.08Suggestive
immunodeficiency, common variable, 4Open Targets
0.08Suggestive
common variable immunodeficiencyOpen Targets
0.08Suggestive
hyper-IgM syndrome type 3Open Targets
0.08Suggestive
immune deficiency, familial variableOpen Targets
0.08Suggestive
BENTA diseaseOpen Targets
0.08Suggestive
combined immunodeficiency due to CTPS1 deficiencyOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
immunodeficiency 18Open Targets
0.08Suggestive
immunodeficiency, common variable, 3Open Targets
0.08Suggestive
X-linked agammaglobulinemiaOpen Targets
0.08Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.08Suggestive
immunodeficiency 62Open Targets
0.08Suggestive
immunodeficiency 86Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MZB1Protein interaction100%IGLL1Protein interaction100%PIGAProtein interaction99%ERO1BProtein interaction98%LOC102723407Protein interaction97%IL2Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
36%
Liver
12%
Heart
4%
Ovary
2%
Brain
1%
Gene Interaction Network
Click a node to explore
JCHAINMZB1IGLL1PIGAERO1BLOC102723407IL2
PROTEIN STRUCTURE
Preparing viewer…
PDB6UE7 · 2.90 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.51Intermediate
Observed/Expected LoF0.31 [0.13–0.97]
RankingsWhere JCHAIN stands among ~20K protein-coding genes
  • #7,567of 20,598
    Most Researched61
  • #9,153of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedJCHAIN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structure, Function, and Therapeutic Use of IgM Antibodies.
PMID: 33066119
Antibodies (Basel) · 2020
1.00
2
Single-Cell Transcriptomics Reveal Immune Mechanisms of the Onset and Progression of IgA Nephropathy.
PMID: 33357427
Cell Rep · 2020
0.90
3
Structural insights into immunoglobulin M.
PMID: 32029689
Science · 2020
0.80
4
The co-location of MARCO+ tumor-associated macrophages and CTSE+ tumor cells determined the poor prognosis in intrahepatic cholangiocarcinoma.
PMID: 39471066
Hepatology · 2025
0.70
5
The human bone marrow plasma cell compartment in rheumatoid arthritis - Clonal relationships and anti-citrulline autoantibody producing cells.
PMID: 37001434
J Autoimmun · 2023
0.60