EMILIN2
Elastin Microfibril Interfacer 2
Gene Information Card
| Symbol | EMILIN2 |
|---|---|
| Full Name | Elastin Microfibril Interfacer 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.32 |
| NCBI Gene ID | 84034 ncbi.nlm.nih.gov/gene/84034 |
| Ensembl ID | ENSG00000141456 |
| UniProt ID | Q9BXX0 |
| OMIM ID | 608928 |
| HGNC ID | 19880 |
| Aliases | EMILIN-2, FOAP-10, MAM |
Description
EMILIN2 encodes a member of the emilin family of extracellular matrix glycoproteins. The protein contains an N-terminal emilin domain, a collagen-like domain, and a C-terminal globular C1q domain. It is involved in cell adhesion, migration, and elastic fiber formation. EMILIN2 is expressed in various tissues and has been implicated in cancer progression and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered EMILIN2 expression affects tumor cell adhesion and invasion via integrin signaling. | PMID: 23431129 |
| Aortic aneurysm | Defective elastic fiber assembly due to EMILIN2 mutations may weaken vessel walls. | PMID: 23352160 |
| Osteoarthritis | Reduced EMILIN2 in cartilage contributes to extracellular matrix degradation. | PMID: 25667139 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Medium |
| Skeletal Muscle | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 4.8 | Moderate expression |
| MCF7 (breast adenocarcinoma) | 7.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Potential loss of disulfide bond affecting protein stability |
| c.567_568insA | Frameshift | <0.01% | Predicted loss-of-function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein or mRNA decay, reducing EMILIN2 function.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the C1q domain may interfere with multimerization, exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • cell adhesion |
| • elastic fiber assembly | • integrin binding |
| • extracellular space |
Pathways
• Elastic fiber formation
• Integrin signaling pathway
• ECM-receptor interaction
Protein Summary
EMILIN2 is a 1,024-amino-acid extracellular matrix glycoprotein that forms homotrimers and interacts with integrins and elastic fiber components. It promotes cell adhesion and migration, and its dysregulation is linked to cancer and connective tissue disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMILIN2 Knockout HEK293 Cell Line | EDJ-KQ9957 | Human | 84034 | Details Get a Quote |
| EMILIN2 Knockout A-549 Cell Line | EDJ-KQ35678 | Human | 84034 | Details Get a Quote |
| EMILIN2 Knockout HCT 116 Cell Line | EDJ-KQ36873 | Human | 84034 | Details Get a Quote |
| EMILIN2 Knockout HeLa Cell Line | EDJ-KQ36874 | Human | 84034 | Details Get a Quote |
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