NINJ2 (Ninjurin 2)
Adhesion molecule involved in nerve regeneration and vascular biology
Gene Information Card
| Symbol | NINJ2 |
|---|---|
| Full Name | Ninjurin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 4814 ncbi.nlm.nih.gov/gene/4814 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9Y3X0 |
| OMIM ID | 609382 |
| HGNC ID | 7827 |
| Aliases | MGC12529, ninjurin-2 |
Description
NINJ2 encodes ninjurin 2, a homophilic adhesion molecule that is upregulated in response to nerve injury. It is involved in cell adhesion, neurite outgrowth, and vascular remodeling. The protein contains a conserved NINJ domain and is expressed in multiple tissues including brain, lung, and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebral small vessel disease (CSVD) | NINJ2 variants may affect vascular adhesion and integrity, contributing to white matter lesions and stroke risk. | ClinVar, OMIM |
| Ischemic stroke | Polymorphisms in NINJ2 have been associated with increased risk of ischemic stroke in some populations. | NCBI Gene, OMIM |
| Peripheral nerve injury | NINJ2 is upregulated in Schwann cells and neurons after injury, promoting nerve regeneration. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 2.4 | Not detected |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| A549 (lung carcinoma) | 9.8 | Epithelial |
| HUVEC (endothelial) | 7.5 | Vascular |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs34166160 (p.Arg110Cys) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| rs12425791 (intronic) | SNP | ~20% (East Asian) | Associated with stroke risk in GWAS |
| c.256G>A (p.Gly86Ser) | Missense | <0.001% | Likely benign (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in NINJ2.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • Cell adhesion (GO:0007155) | • Homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) |
| • Neuron projection development (GO:0031175) | • Plasma membrane (GO:0005886) |
| • Integral component of membrane (GO:0016021) |
Pathways
• Cell adhesion molecules (CAMs) - Homo sapiens (hsa04514)
• Axon guidance (hsa04360)
Protein Summary
Ninjurin 2 is a 142-amino acid transmembrane protein with a single NINJ domain. It mediates homophilic cell adhesion and is upregulated after nerve injury. The protein is expressed in neurons, Schwann cells, and vascular endothelium. It promotes neurite outgrowth and may play a role in vascular repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NINJ2 Knockout HEK293 Cell Line | EDJ-KQ5346 | Human | 4815 | Details Get a Quote |
| NINJ2 Knockout A-549 Cell Line | EDJ-KQ28451 | Human | 4815 | Details Get a Quote |
| NINJ2 Knockout HeLa Cell Line | EDJ-KQ28452 | Human | 4815 | Details Get a Quote |
| NINJ2 Knockout HCT 116 Cell Line | EDJ-KQ70953 | Human | 4815 | Details Get a Quote |
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