NELL2: Neural EGFL Like 2 – Gene Overview and Clinical Significance
Comprehensive biomedical profile of NELL2, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | NELL2 |
|---|---|
| Full Name | Neural EGFL Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 4753 ncbi.nlm.nih.gov/gene/4753 |
| Ensembl ID | ENSG00000184674 |
| UniProt ID | Q99435 |
| OMIM ID | 602219 |
| HGNC ID | 7752 |
| Aliases | NELL2, NRP2, NELL2a, NELL2b |
Description
NELL2 (Neural EGFL Like 2) is a protein-coding gene located on chromosome 12q13.11. It encodes a secreted protein containing multiple EGF-like domains and a thrombospondin type-1 domain. NELL2 is involved in neuronal development, cell growth, and differentiation. It is expressed predominantly in neural tissues and has been implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression or altered splicing may promote tumor growth and metastasis | COSMIC; multiple studies report NELL2 upregulation in glioblastoma, breast, and lung cancers |
| Neurodevelopmental disorders | Potential role in neuronal migration and differentiation; mutations may contribute to intellectual disability | ClinVar; limited evidence from case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Testis | 12.8 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.3 | High expression; neuronal model |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown; rare variant in population databases |
| c.567_568insA (p.Glu190Argfs*12) | Frameshift | <0.01% | Predicted loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function, potentially affecting neuronal development.
Gain of Function (GOF)
Not well characterized; some missense variants may alter protein stability or interaction.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • protein binding (GO:0005515) |
| • nervous system development (GO:0007399) | • growth factor activity (GO:0008083) |
| • extracellular matrix organization (GO:0030198) |
Pathways
• PI3K-Akt signaling pathway (Reactome)
• Integrin signaling pathway (Reactome)
• Neuronal development and differentiation (KEGG)
Protein Summary
The NELL2 protein is a secreted glycoprotein of approximately 90 kDa, containing multiple EGF-like repeats and a thrombospondin type-1 domain. It functions as a growth factor involved in neuronal cell survival, differentiation, and axon guidance. The protein is processed by furin-like proteases and can form homotrimers. It interacts with integrins and modulates intracellular signaling cascades, including PI3K/Akt and MAPK pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NELL2 Knockout HEK293 Cell Line | EDJ-KQ3639 | Human | 4753 | Details Get a Quote |
| NELL2 Knockout HeLa Cell Line | EDJ-KQ25592 | Human | 4753 | Details Get a Quote |
| NELL2 Knockout A-549 Cell Line | EDJ-KQ62474 | Human | 4753 | Details Get a Quote |
| NELL2 Knockout HCT 116 Cell Line | EDJ-KQ70941 | Human | 4753 | Details Get a Quote |
