EFEMP1 Gene: EGF Containing Fibulin Extracellular Matrix Protein 1
Key regulator of extracellular matrix architecture, associated with macular degeneration and cancer
Gene Information Card
| Symbol | EFEMP1 |
|---|---|
| Full Name | EGF containing fibulin extracellular matrix protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 2202 ncbi.nlm.nih.gov/gene/2202 |
| Ensembl ID | ENSG00000115380 |
| UniProt ID | Q12805 |
| OMIM ID | 601548 |
| HGNC ID | 3218 |
| Aliases | FBLN3, FIBL-3, S1-5, DHRD, MLVT, MTLV |
Description
EFEMP1 encodes fibulin-3, an extracellular matrix glycoprotein containing EGF-like domains and calcium-binding motifs. It is involved in elastic fiber formation, cell adhesion, and tissue remodeling. Mutations in EFEMP1 cause Doyne honeycomb retinal dystrophy (malattia leventinese), a form of age-related macular degeneration. Altered expression is linked to various cancers, including glioma and breast cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Doyne honeycomb retinal dystrophy (Malattia Leventinese) | Missense mutations (e.g., R345W) cause misfolding and accumulation of fibulin-3 in Bruch's membrane, leading to drusen formation and retinal degeneration. | OMIM #126600; ClinVar |
| Age-related macular degeneration (AMD) | EFEMP1 variants contribute to drusen deposition and complement dysregulation in the retina. | NCBI Gene; OMIM |
| Glioma | EFEMP1 overexpression promotes tumor invasion and angiogenesis via integrin signaling. | COSMIC; PubMed |
| Breast cancer | EFEMP1 upregulation correlates with poor prognosis and metastasis through extracellular matrix remodeling. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 18.5 | Medium |
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 15.1 | Medium |
| Brain | 6.2 | Low |
| Retina | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.8 | Embryonic kidney cells; moderate expression |
| HeLa | 9.3 | Cervical cancer cells; low expression |
| U87MG | 25.6 | Glioblastoma cells; high expression |
| MCF7 | 11.2 | Breast cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1033C>T (p.Arg345Trp) | Missense | Pathogenic in DHRD | Dominant negative; protein misfolding and extracellular accumulation |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Unknown functional effect |
| c.1A>G (p.Met1?) | Start loss | Likely pathogenic | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) lead to absent or truncated protein, reducing extracellular matrix integrity.
Gain of Function (GOF)
Not well documented; overexpression in tumors may confer gain-of-function in cell migration.
Dominant Negative (DN)
p.Arg345Trp acts as dominant negative, causing misfolded protein that accumulates and disrupts normal fibulin-3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Integrin signaling pathway (KEGG: hsa04510)
• Elastic fibre formation (Reactome: R-HSA-1566948)
Protein Summary
Fibulin-3 (EFEMP1) is a secreted extracellular matrix glycoprotein of ~55 kDa, containing five EGF-like domains and a C-terminal fibulin-type domain. It binds calcium and interacts with fibronectin, laminin, and fibrillin. The protein is critical for elastic fiber assembly and tissue homeostasis. Mutations cause retinal dystrophy, while dysregulation contributes to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFEMP1 Knockout HEK293 Cell Line | EDJ-KQ3298 | Human | 2202 | Details Get a Quote |
| EFEMP1 Knockout A-549 Cell Line | EDJ-KQ24878 | Human | 2202 | Details Get a Quote |
| EFEMP1 Knockout HeLa Cell Line | EDJ-KQ24879 | Human | 2202 | Details Get a Quote |
| EFEMP1 Knockout HCT 116 Cell Line | EDJ-KQ70167 | Human | 2202 | Details Get a Quote |
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