NAV2 Gene - Neuron Navigator 2
Comprehensive guide to NAV2: function, expression, mutations, and associated diseases
Gene Information Card
| Symbol | NAV2 |
|---|---|
| Full Name | Neuron Navigator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 89795 ncbi.nlm.nih.gov/gene/89795 |
| Ensembl ID | ENSG00000166888 |
| UniProt ID | Q8IVL0 |
| OMIM ID | 607026 |
| HGNC ID | 15998 |
| Aliases | HELAD1, POMFIL2, STEERIN2, UNC53H2 |
Description
NAV2 (Neuron Navigator 2) is a protein-coding gene that encodes a member of the neuron navigator family. The protein contains a calponin homology domain and a AAA ATPase domain, and is involved in microtubule dynamics, neurite outgrowth, and axon guidance. NAV2 is also implicated in cell migration and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | NAV2 overexpression promotes cell migration and invasion via cytoskeletal remodeling | PMID: 23454898 |
| Breast cancer | NAV2 amplification and overexpression correlate with poor prognosis | PMID: 25242043 |
| Neurodevelopmental disorders | NAV2 mutations may disrupt axon guidance pathways | PMID: 25447991 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Colon | 6.1 | Low |
| Breast | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| MCF7 | 7.5 | Moderate expression |
| HCT116 | 11.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146C>T (p.Arg716Trp) | Missense | <0.01% | Unknown |
| c.3073_3074insA (p.Thr1025Asnfs*2) | Frameshift | <0.01% | Loss of function |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr1025Asnfs*2) predicted to truncate the protein, likely impairing microtubule binding and axon guidance.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential gain-of-function in cell migration.
Dominant Negative (DN)
No dominant-negative mutations reported in NAV2.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule-based movement (GO:0007018) |
| • axon guidance (GO:0007411) | • cell projection organization (GO:0030030) |
| • actin filament binding (GO:0051015) |
Pathways
• Microtubule cytoskeleton organization
• Axon guidance (Netrin signaling)
• Cell migration (cytoskeletal remodeling)
Protein Summary
NAV2 is a 2275-amino acid protein containing an N-terminal calponin homology domain and a central AAA ATPase domain. It binds microtubules and actin filaments, regulating cytoskeletal dynamics during neuronal development and cell migration. The protein is widely expressed in brain and testis, and its overexpression is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAV2 Knockout HEK293 Cell Line | EDJ-KQ10513 | Human | 89797 | Details Get a Quote |
| NAV2 Knockout A-549 Cell Line | EDJ-KQ37918 | Human | 89797 | Details Get a Quote |
| NAV2 Knockout HCT 116 Cell Line | EDJ-KQ37919 | Human | 89797 | Details Get a Quote |
| NAV2 Knockout HeLa Cell Line | EDJ-KQ37920 | Human | 89797 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
