EMB Gene - Embigin
Embigin: A Transmembrane Glycoprotein Involved in Cell Adhesion and Neuronal Development
Gene Information Card
| Symbol | EMB |
|---|---|
| Full Name | embigin |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 133418 ncbi.nlm.nih.gov/gene/133418 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q6PCB8 |
| OMIM ID | 614345 |
| HGNC ID | 30439 |
| Aliases | IGSF6, MGC:133418 |
Description
The EMB gene encodes embigin, a transmembrane glycoprotein belonging to the immunoglobulin superfamily. Embigin is involved in cell adhesion, neurite outgrowth, and neuronal development. It is expressed in various tissues, with notable levels in the brain, and plays a role in the formation of the neuromuscular junction and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.5 | Low |
| Heart | 6.3 | Low |
| Kidney | 5.1 | Low |
| Liver | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 18.7 | Neuroblastoma cell line |
| HEK293 | 12.3 | Embryonic kidney cells |
| A549 | 7.8 | Lung carcinoma cells |
| HepG2 | 3.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • nervous system development (GO:0007399) |
| • cell junction (GO:0030054) |
Pathways
• No specific pathways curated
Protein Summary
Embigin is a 45 kDa transmembrane glycoprotein with an extracellular immunoglobulin-like domain. It is involved in cell-cell adhesion and promotes neurite outgrowth by interacting with integrins and other cell surface receptors. Embigin is highly expressed in the developing and adult nervous system, where it contributes to synaptic organization and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMB Knockout HEK293 Cell Line | EDJ-KQ9313 | Human | 133418 | Details Get a Quote |
| EMB Knockout A-549 Cell Line | EDJ-KQ35938 | Human | 133418 | Details Get a Quote |
| EMB Knockout HCT 116 Cell Line | EDJ-KQ35939 | Human | 133418 | Details Get a Quote |
| EMB Knockout HeLa Cell Line | EDJ-KQ35940 | Human | 133418 | Details Get a Quote |
