IGFL3 Gene - Insulin-Like Growth Factor Like Family Member 3
Comprehensive gene card for IGFL3: genomic data, expression, mutations, and disease associations
Gene Information Card
| Symbol | IGFL3 |
|---|---|
| Full Name | Insulin-Like Growth Factor Like Family Member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 388555 ncbi.nlm.nih.gov/gene/388555 |
| Ensembl ID | ENSG00000188211 |
| UniProt ID | Q6B9Z1 |
| OMIM ID | 617542 |
| HGNC ID | 32344 |
| Aliases | UNQ649, PRO1283, IGFL3_HUMAN |
Description
IGFL3 (Insulin-Like Growth Factor Like Family Member 3) is a protein-coding gene located on chromosome 19q13.32. It encodes a member of the insulin-like growth factor (IGF) binding protein family. The protein is involved in growth regulation and has been implicated in various cancers. Expression is predominantly in skin, placenta, and certain epithelial tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of IGFL3 may promote cell proliferation via IGF signaling | COSMIC; PMID: 25691885 |
| Colorectal cancer | Altered expression linked to tumor progression | COSMIC; PMID: 27197191 |
| Skin cancer (melanoma) | IGFL3 expression in melanoma cell lines suggests role in tumor growth | COSMIC; PMID: 28723891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Placenta | 8.3 | Medium |
| Esophagus | 6.1 | Low |
| Breast | 4.7 | Low |
| Lung | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| A549 (lung cancer) | 3.1 | Low expression |
| HEK293 (embryonic kidney) | 1.8 | Very low expression |
| HaCaT (keratinocyte) | 22.4 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | <0.01% | Unknown; ClinVar |
| c.341C>T (p.Pro114Leu) | Missense | <0.01% | Unknown; ClinVar |
| c.452_453del (p.Glu151fs) | Frameshift | <0.01% | Loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu151fs) predicted to truncate the protein, likely leading to loss of function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in IGFL3.
Dominant Negative (DN)
No evidence for dominant-negative effects in IGFL3.
View complete mutation data：
Gene Ontology (GO)
| • insulin-like growth factor binding (GO:0005520) | • extracellular region (GO:0005576) |
| • extracellular space (GO:0005615) | • sequence-specific DNA binding (GO:0043565) |
Pathways
• Insulin-like growth factor signaling (Reactome: R-HSA-2404192)
• IGF binding proteins modulate IGF transport (Reactome: R-HSA-381866)
Protein Summary
IGFL3 encodes a secreted protein of 154 amino acids (UniProt Q6B9Z1) that belongs to the insulin-like growth factor binding protein (IGFBP) family. It contains an IGFBP domain and a thyroglobulin type-1 repeat. The protein binds IGFs with low affinity and may modulate IGF signaling. Expression is highest in skin and placenta. Altered expression is observed in several cancers, suggesting a role in tumor biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGFL3 Knockout HEK293 Cell Line | EDJ-KQ13813 | Human | 388555 | Details Get a Quote |
| IGFL3 Knockout HeLa Cell Line | EDJ-KQ60032 | Human | 388555 | Details Get a Quote |
| IGFL3 Knockout A-549 Cell Line | EDJ-KQ68493 | Human | 388555 | Details Get a Quote |
| IGFL3 Knockout HCT 116 Cell Line | EDJ-KQ76871 | Human | 388555 | Details Get a Quote |
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