NDFIP2: NEDD4 Family Interacting Protein 2
Key regulator of ubiquitin ligase activity and neuronal development
Gene Information Card
| Symbol | NDFIP2 |
|---|---|
| Full Name | NEDD4 family interacting protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q31.1 |
| NCBI Gene ID | 54602 ncbi.nlm.nih.gov/gene/54602 |
| Ensembl ID | ENSG00000102468 |
| UniProt ID | Q9Y2X7 |
| OMIM ID | 609287 |
| HGNC ID | 17676 |
| Aliases | NAWBP5A, N4WBP5A, NEDD4BP2 |
Description
NDFIP2 (NEDD4 family interacting protein 2) encodes a protein that interacts with NEDD4 family ubiquitin ligases, modulating their activity and substrate specificity. It is involved in endosomal trafficking, neuronal development, and regulation of the ubiquitin-proteasome system. The gene is expressed in multiple tissues, with highest levels in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered NDFIP2 expression may disrupt NEDD4-mediated ubiquitination, affecting synaptic protein turnover | Limited; case-control studies and functional assays |
| Cancer (breast, colorectal) | NDFIP2 overexpression may promote tumor growth via enhanced ubiquitin ligase activity | Observational; TCGA data and in vitro models |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 5.1 | Medium |
| Liver | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| SH-SY5Y | 9.8 | Neuronal model |
| HeLa | 6.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1021G>A (p.Val341Met) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • endosomal transport | • negative regulation of protein ubiquitination |
Pathways
• Ubiquitin mediated proteolysis
• Endocytosis
• NEDD4 family signaling
Protein Summary
The NDFIP2 protein is a 336-amino acid membrane-associated protein that contains a PY motif (PPxY) essential for binding to WW domains of NEDD4 family E3 ubiquitin ligases. It localizes to endosomes and the plasma membrane, facilitating the ubiquitination and degradation of target proteins. NDFIP2 is highly expressed in the brain and plays a role in neuronal development and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDFIP2 Knockout HEK293 Cell Line | EDJ-KQ2901 | Human | 54602 | Details Get a Quote |
| NDFIP2 Knockout A-549 Cell Line | EDJ-KQ23977 | Human | 54602 | Details Get a Quote |
| NDFIP2 Knockout HCT 116 Cell Line | EDJ-KQ23978 | Human | 54602 | Details Get a Quote |
| NDFIP2 Knockout HeLa Cell Line | EDJ-KQ23979 | Human | 54602 | Details Get a Quote |
