EFEMP2 Gene (EGF Containing Fibulin Extracellular Matrix Protein 2)
Key player in elastic fiber formation and connective tissue disorders
Gene Information Card
| Symbol | EFEMP2 |
|---|---|
| Full Name | EGF containing fibulin extracellular matrix protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 30008 ncbi.nlm.nih.gov/gene/30008 |
| Ensembl ID | ENSG00000172638 |
| UniProt ID | O95967 |
| OMIM ID | 604633 |
| HGNC ID | 3219 |
| Aliases | FBLN4, MBP1, UPH1 |
Description
EFEMP2 encodes fibulin-4, an extracellular matrix protein that binds to fibronectin and elastin, critical for elastic fiber assembly and vascular integrity. Mutations cause autosomal recessive cutis laxa type 1B (ARCL1B) and predispose to aortic aneurysms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cutis laxa, autosomal recessive, type 1B | Loss of fibulin-4 disrupts elastic fiber crosslinking, leading to loose, inelastic skin and vascular fragility. | OMIM #614437; ClinVar pathogenic variants |
| Aortic aneurysm, familial thoracic 7 | Defective elastic lamellae in aortic wall due to EFEMP2 mutations increase risk of dissection. | OMIM #617108; ClinVar |
| Supravalvular aortic stenosis | Rare association with EFEMP2 variants affecting elastin assembly. | Case reports in ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Aorta | 18.7 | High |
| Lung | 9.5 | Medium |
| Skin | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 15.0 | Primary cells |
| Fibroblasts (skin) | 8.5 | Primary cells |
| HUVEC | 7.2 | Endothelial line |
| HEK293 | 3.0 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107G>A (p.Cys36Tyr) | Missense | Rare | Disrupts EGF-like domain, reduces secretion |
| c.610C>T (p.Arg204*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
| c.1033C>T (p.Arg345Trp) | Missense | Rare | Impaired fibulin-4 binding to elastin |
Mutation functional classification
Loss of Function (LOF)
Most EFEMP2 mutations are loss-of-function, leading to reduced or absent fibulin-4, causing cutis laxa and aortic aneurysms.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible for missense variants that interfere with multimerization, but evidence limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Elastic fibre formation (Reactome: R-HSA-1566948)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Integrin cell surface interactions (Reactome: R-HSA-216083)
Protein Summary
Fibulin-4 (UniProt O95967) is a 443-amino acid secreted glycoprotein with five EGF-like calcium-binding domains and a C-terminal fibulin-type domain. It localizes to elastic fibers in the aorta, skin, and lung, where it crosslinks tropoelastin and interacts with fibrillin-1 and LOX. Deficiency leads to fragmented elastic fibers and connective tissue fragility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EFEMP2 Knockout HEK293 Cell Line | EDJ-KQ9132 | Human | 30008 | Details Get a Quote |
| EFEMP2 Knockout HCT 116 Cell Line | EDJ-KQ35668 | Human | 30008 | Details Get a Quote |
| EFEMP2 Knockout HeLa Cell Line | EDJ-KQ35669 | Human | 30008 | Details Get a Quote |
| EFEMP2 Knockout A-549 Cell Line | EDJ-KQ64630 | Human | 30008 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
