CD74 Gene (CD74 Molecule, Major Histocompatibility Complex, Class II Invariant Chain)
A comprehensive biomedical resource on CD74, including gene structure, expression, function, associated diseases, and mutations.
Gene Information Card
| Symbol | CD74 |
|---|---|
| Full Name | CD74 molecule, major histocompatibility complex, class II invariant chain |
| Gene Type | protein-coding |
| Chromosomal Location | 5q33.1 |
| NCBI Gene ID | 972 ncbi.nlm.nih.gov/gene/972 |
| Ensembl ID | ENSG00000019582 |
| UniProt ID | P04233 |
| OMIM ID | 142790 |
| HGNC ID | 1697 |
| Aliases | DHLAG, HLADG, II, Ia-GAMMA, p33 |
Description
CD74 encodes the invariant chain (Ii) of the major histocompatibility complex (MHC) class II. This protein is essential for the proper assembly, transport, and antigen presentation function of MHC class II molecules. It also functions as a cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF), mediating signaling pathways involved in cell survival and proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | CD74 overexpression promotes cell proliferation and invasion via MIF signaling | PMID: 23454750 |
| Rheumatoid arthritis | CD74-MIF interaction drives macrophage activation and inflammation | PMID: 18288109 |
| Systemic lupus erythematosus | CD74 polymorphisms associated with disease susceptibility | PMID: 19838199 |
| Lung cancer | CD74 expression correlates with poor prognosis and metastasis | PMID: 25695679 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 68.5 | High |
| Spleen | 62.3 | High |
| Bone marrow | 45.1 | High |
| Lung | 12.4 | Medium |
| Kidney | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (B-lymphoblast) | 89.7 | High expression |
| THP-1 (monocyte) | 72.4 | High expression |
| HeLa (cervical) | 15.6 | Medium expression |
| A549 (lung) | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, likely loss of function |
| c.194C>T (p.Pro65Leu) | missense | <0.01% | Unknown significance |
| c.310G>A (p.Gly104Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD74 are rare and may impair MHC class II antigen presentation, potentially increasing susceptibility to infections.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression is more commonly observed in cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CD74.
View complete mutation data：
Gene Ontology (GO)
| • GO:0002504 - antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | • GO:0005515 - protein binding |
| • GO:0005886 - plasma membrane | • GO:0005765 - lysosomal membrane |
| • GO:0042802 - identical protein binding |
Pathways
• Antigen processing and presentation (KEGG hsa04612)
• MIF-mediated signaling (Reactome R-HSA-6798695)
Protein Summary
CD74 is a type II transmembrane protein that acts as the MHC class II invariant chain. It stabilizes the peptide-binding groove of MHC class II molecules during biosynthesis, directs them to endosomal compartments, and prevents premature peptide loading. After proteolytic cleavage, a fragment (CLIP) remains until replaced by antigenic peptide. CD74 also serves as a receptor for MIF, triggering ERK1/2 and PI3K/Akt pathways, promoting cell survival and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD74 Knockout HEK293 Cell Line | EDC08272 | Human | 972 | Details Get a Quote |
| CD74 Knockout HeLa Cell Line | EDJ-KQ19831 | Human | 972 | Details Get a Quote |
| CD74 Knockout A-549 Cell Line | EDJ-KQ61315 | Human | 972 | Details Get a Quote |
| CD74 Knockout HCT 116 Cell Line | EDJ-KQ69810 | Human | 972 | Details Get a Quote |
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