ELFN2 Gene - Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 2
Comprehensive genomic and proteomic analysis of ELFN2, a gene encoding a synaptic adhesion protein implicated in neurological disorders and cancer.
Gene Information Card
| Symbol | ELFN2 |
|---|---|
| Full Name | Extracellular Leucine Rich Repeat And Fibronectin Type III Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 114794 ncbi.nlm.nih.gov/gene/114794 |
| Ensembl ID | ENSG00000100234 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 616489 |
| HGNC ID | 28008 |
| Aliases | FLJ32709, MGC131914, PPP1R29 |
Description
ELFN2 encodes a protein containing leucine-rich repeats (LRRs) and fibronectin type III domains, characteristic of synaptic adhesion molecules. It is involved in the regulation of synaptic transmission and has been associated with neurodevelopmental disorders. The gene is also implicated in certain cancers through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with language delay and intellectual disability | Disruption of synaptic adhesion and signaling | OMIM #616489; rare missense variants reported in affected individuals |
| Autism spectrum disorder | Altered synaptic function due to ELFN2 variants | ClinVar; case-control studies |
| Colorectal cancer | Somatic mutations and differential expression | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 3.5 | Low endogenous expression |
| HCT116 (colorectal carcinoma) | 6.2 | Moderate expression |
| A549 (lung carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Altered protein stability; reported in neurodevelopmental disorder |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Impaired synaptic localization; ClinVar |
| c.1789_1790insA (p.Thr597Asnfs*12) | Frameshift | <0.001% | Loss of function; COSMIC colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein; observed in cancer and neurodevelopmental cases.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein interactions.
Dominant Negative (DN)
Not reported for ELFN2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005886 - plasma membrane | • GO:0007156 - homophilic cell adhesion via plasma membrane adhesion molecules |
| • GO:0007268 - chemical synaptic transmission | • GO:0030424 - axon |
| • GO:0045202 - synapse |
Pathways
• Synaptic adhesion and signaling (Reactome R-HSA-6794362)
• Neuronal system (Reactome R-HSA-112316)
Protein Summary
The ELFN2 protein is a single-pass type I membrane protein with extracellular LRR and fibronectin type III domains. It localizes to synapses and mediates cell adhesion and synaptic signaling. The protein is expressed predominantly in the brain and testis, with lower levels in other tissues. Structural integrity is critical for its role in neuronal connectivity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ELFN2 Knockout HEK293 Cell Line | EDJ-KQ7467 | Human | 114794 | Details Get a Quote |
| ELFN2 Knockout A-549 Cell Line | EDJ-KQ32684 | Human | 114794 | Details Get a Quote |
| ELFN2 Knockout HCT 116 Cell Line | EDJ-KQ32685 | Human | 114794 | Details Get a Quote |
| ELFN2 Knockout HeLa Cell Line | EDJ-KQ32686 | Human | 114794 | Details Get a Quote |
| ELFN2 Knockout HAP1 Cell Line | EDC08285 | Human | 114794 | Details Get a Quote |
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