NHERF4 (Na+/H+ Exchanger Regulatory Factor 4)
A scaffold protein involved in ion transport and cell signaling
Gene Information Card
| Symbol | NHERF4 |
|---|---|
| Full Name | Na+/H+ Exchanger Regulatory Factor 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000163930 |
| UniProt ID | Q86UT5 |
| OMIM ID | 611745 |
| HGNC ID | 16886 |
| Aliases | PDZK3, PDZD3, IKEPP |
Description
NHERF4 (Na+/H+ Exchanger Regulatory Factor 4) encodes a scaffold protein that belongs to the NHERF family. It contains PDZ domains and mediates the assembly of multiprotein complexes, regulating ion transporters, receptors, and signaling molecules. The protein is involved in renal and intestinal ion homeostasis, cell polarity, and signal transduction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrolithiasis | Altered ion transport due to NHERF4 dysfunction may contribute to stone formation | ClinVar |
| Hypertension | Potential role in blood pressure regulation via sodium transport modulation | OMIM |
| Cancer (colorectal) | Dysregulation of NHERF4 expression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small Intestine | 15.2 | Medium |
| Liver | 8.3 | Low |
| Lung | 5.1 | Low |
| Breast | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| Caco-2 | 14.8 | High expression |
| HepG2 | 7.2 | Low expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Met) | Missense | 0.005% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may impair PDZ domain interactions.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No known dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • PDZ domain binding |
| • ion transport | • cell-cell signaling |
| • protein localization |
Pathways
• Ion transport by P-type ATPases
• Sodium/Proton exchanger regulation
• PDZ domain-mediated signaling
Protein Summary
The NHERF4 protein (UniProt Q86UT5) is a 519-amino acid scaffold containing four PDZ domains. It localizes to the plasma membrane and interacts with ion transporters (e.g., NHE3, CFTR) and receptors. It plays a role in regulating renal and intestinal ion absorption, cell polarity, and signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NHERF4 Knockout HEK293 Cell Line | EDJ-KQ14418 | Human | 79849 | Details Get a Quote |
| NHERF4 Knockout A-549 Cell Line | EDJ-KQ44619 | Human | 79849 | Details Get a Quote |
| NHERF4 Knockout HCT 116 Cell Line | EDJ-KQ44620 | Human | 79849 | Details Get a Quote |
| NHERF4 Knockout HeLa Cell Line | EDJ-KQ44621 | Human | 79849 | Details Get a Quote |
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