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.

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 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
Displaying Records 1 To 4 Of 4 Records
Contact Us
*
*
*
*
How did you hear about us: