NHERF2 (Na+/H+ Exchanger Regulatory Factor 2)
A scaffold protein regulating ion transport and receptor signaling
Gene Information Card
| Symbol | NHERF2 |
|---|---|
| Full Name | Na+/H+ Exchanger Regulatory Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 10371 ncbi.nlm.nih.gov/gene/10371 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q15599 |
| OMIM ID | 604555 |
| HGNC ID | 11076 |
| Aliases | SLC9A3R2, E3KARP, TKA-1, SIP-1 |
Description
NHERF2 (Na+/H+ Exchanger Regulatory Factor 2) encodes a scaffold protein containing two PDZ domains and a C-terminal ezrin/radixin/moesin (ERM) binding domain. It regulates the trafficking and activity of membrane transporters and receptors, including the Na+/H+ exchanger NHE3, by linking them to the actin cytoskeleton. NHERF2 is involved in signal transduction pathways and ion homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrolithiasis | Altered NHE3 regulation may contribute to urinary acidification defects | PMID: 15634738 |
| Hypertension | Modulation of renal sodium transport via NHE3 | PMID: 16380395 |
| Cancer (colorectal) | Overexpression linked to Wnt/β-catenin signaling | PMID: 21502537 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Lung | 6.1 | Low |
| Small intestine | 15.2 | Medium |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | High expression |
| Caco-2 | 14.8 | High expression |
| HepG2 | 7.5 | Moderate expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein lacking PDZ domains
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of sodium transport (Reactome: R-HSA-425393)
• Wnt signaling pathway (KEGG: hsa04310)
• ERM protein binding pathway
Protein Summary
NHERF2 is a 337-amino acid scaffold protein with two PDZ domains (PDZ1 and PDZ2) and a C-terminal ERM-binding region. It interacts with the cytoplasmic tail of NHE3 and other membrane proteins, facilitating their localization and regulation. The protein is highly expressed in kidney and intestinal epithelia, where it modulates ion transport and cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHERF2 Knockout HEK293 Cell Line | EDJ-KQ2409 | Human | 9351 | Details Get a Quote |
| NHERF2 Knockout A-549 Cell Line | EDJ-KQ22907 | Human | 9351 | Details Get a Quote |
| NHERF2 Knockout HCT 116 Cell Line | EDJ-KQ22908 | Human | 9351 | Details Get a Quote |
| NHERF2 Knockout HeLa Cell Line | EDJ-KQ22909 | Human | 9351 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
