EGFLAM: EGF-like, Fibronectin Type III and Laminin G Domains
A matrikine gene encoding a secreted extracellular matrix protein with roles in cell adhesion and migration
Gene Information Card
| Symbol | EGFLAM |
|---|---|
| Full Name | EGF-like, fibronectin type III and laminin G domains |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 133584 ncbi.nlm.nih.gov/gene/133584 |
| Ensembl ID | ENSG00000164318 |
| UniProt ID | Q8N2S1 |
| OMIM ID | 608535 |
| HGNC ID | 26910 |
| Aliases | pikachurin, AGRINL, AGRN-like, EGFLAM1 |
Description
EGFLAM (EGF-like, fibronectin type III and laminin G domains) encodes pikachurin, a secreted extracellular matrix protein that contains EGF-like repeats, fibronectin type III domains, and laminin G domains. It is involved in cell adhesion, migration, and retinal synapse formation. The gene is expressed in various tissues, with highest levels in the retina and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Disruption of EGFLAM impairs photoreceptor ribbon synapse formation, leading to visual dysfunction. | OMIM #608535; mouse model studies |
| Cancer (colorectal, breast) | EGFLAM overexpression promotes tumor cell adhesion and migration via integrin binding. | COSMIC; PubMed studies |
| Alzheimer's disease | Reduced EGFLAM expression in brain may contribute to synaptic loss. | NCBI GEO; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 45.2 | High |
| Cerebral cortex | 12.8 | Medium |
| Heart | 8.5 | Medium |
| Liver | 2.1 | Low |
| Kidney | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 32.1 | High expression |
| SH-SY5Y (neuroblastoma) | 18.7 | Moderate expression |
| HeLa (cervical carcinoma) | 5.2 | Low expression |
| HCT116 (colorectal carcinoma) | 22.4 | Elevated compared to normal colon |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with retinal dystrophy |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; reported in ClinVar |
| c.890A>G (p.Asn297Ser) | Missense | 0.02% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of extracellular matrix function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Synaptic signaling (GO:0099536)
Protein Summary
Pikachurin (EGFLAM) is a 1,001-amino-acid secreted glycoprotein composed of multiple EGF-like domains, fibronectin type III repeats, and a C-terminal laminin G domain. It localizes to the extracellular matrix and interacts with integrins and dystroglycan to mediate cell-matrix adhesion. In the retina, it is essential for the proper formation of photoreceptor ribbon synapses. The protein is also implicated in tumor progression and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EGFLAM Knockout HEK293 Cell Line | EDJ-KQ9319 | Human | 133584 | Details Get a Quote |
| EGFLAM Knockout HeLa Cell Line | EDJ-KQ35942 | Human | 133584 | Details Get a Quote |
| EGFLAM Knockout A-549 Cell Line | EDJ-KQ66818 | Human | 133584 | Details Get a Quote |
| EGFLAM Knockout HCT 116 Cell Line | EDJ-KQ75221 | Human | 133584 | Details Get a Quote |
