IGLL5: Immunoglobulin Lambda Like Polypeptide 5
A key component of the pre-B cell receptor complex involved in B cell development and lymphoid malignancies.
Gene Information Card
| Symbol | IGLL5 |
|---|---|
| Full Name | Immunoglobulin Lambda Like Polypeptide 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 100423062 ncbi.nlm.nih.gov/gene/100423062 |
| Ensembl ID | ENSG00000254709 |
| UniProt ID | B9A064 |
| OMIM ID | 146770 |
| HGNC ID | 37127 |
| Aliases | G22P1, IGLL, IGLL1, IGLV@, lambda5 |
Description
IGLL5 encodes a member of the immunoglobulin lambda-like polypeptide family. This protein is a component of the pre-B cell receptor (pre-BCR) complex, which is essential for early B cell development. The pre-BCR complex, composed of an immunoglobulin heavy chain and surrogate light chain (including IGLL5), signals to promote V(D)J recombination and B cell maturation. IGLL5 is also implicated in B cell malignancies, with recurrent somatic mutations reported in diffuse large B-cell lymphoma and chronic lymphocytic leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse Large B-Cell Lymphoma | Somatic mutations in IGLL5 may disrupt pre-BCR signaling, contributing to lymphomagenesis. | COSMIC; PMID: 23792559 |
| Chronic Lymphocytic Leukemia | Recurrent mutations in IGLL5 are associated with clonal evolution and disease progression. | COSMIC; PMID: 26030186 |
| Multiple Myeloma | Altered expression of IGLL5 has been observed in plasma cell neoplasms, potentially affecting B cell differentiation. | NCBI Gene; PMID: 25426837 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 8.3 | Low |
| Spleen | 6.1 | Low |
| Blood | 4.7 | Low |
| Tonsil | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.8 | B cell line, high expression |
| Daudi (Burkitt lymphoma) | 14.2 | B cell line, high expression |
| K562 (leukemia) | 0.5 | Non-B cell line, very low expression |
| HEK293 (embryonic kidney) | 0.3 | Non-hematopoietic, very low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152A>G (p.Gln51Arg) | Missense | 0.5% in DLBCL | May alter pre-BCR complex stability |
| c.301C>T (p.Arg101*) | Nonsense | 0.2% in CLL | Loss of function, truncated protein |
| c.412_413insA (p.Thr138Asnfs*2) | Frameshift | 0.1% in multiple myeloma | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in IGLL5 lead to truncated or absent protein, impairing pre-BCR formation and B cell development.
Gain of Function (GOF)
No evidence of gain-of-function mutations in IGLL5.
Dominant Negative (DN)
No evidence of dominant-negative mutations in IGLL5.
View complete mutation data:
Gene Ontology (GO)
| • antigen binding (GO:0003823) | • plasma membrane (GO:0005886) |
| • external side of plasma membrane (GO:0009897) | • immunoglobulin complex (GO:0019814) |
| • B cell receptor signaling pathway (GO:0042100) |
Pathways
• Pre-B cell receptor signaling (Reactome: R-HSA-983705)
• B cell receptor signaling (Reactome: R-HSA-983695)
Protein Summary
IGLL5 encodes the lambda5 protein, a component of the surrogate light chain in the pre-B cell receptor. This protein is essential for early B cell development, facilitating the transition from pro-B to pre-B cells. It is expressed primarily in B cell lineages and is frequently mutated in B cell malignancies, suggesting a role in lymphomagenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGLL5 Knockout HEK293 Cell Line | EDJ-KQ13816 | Human | 100423062 | Details Get a Quote |
| IGLL5 Knockout HeLa Cell Line | EDJ-KQ60888 | Human | 100423062 | Details Get a Quote |
| IGLL5 Knockout A-549 Cell Line | EDJ-KQ69362 | Human | 100423062 | Details Get a Quote |
| IGLL5 Knockout HCT 116 Cell Line | EDJ-KQ77716 | Human | 100423062 | Details Get a Quote |
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