SLC9A7: Solute Carrier Family 9 Member A7
A sodium/hydrogen exchanger involved in intracellular pH regulation and linked to X-linked intellectual disability.
Gene Information Card
| Symbol | SLC9A7 |
|---|---|
| Full Name | Solute Carrier Family 9 Member A7 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 84679 ncbi.nlm.nih.gov/gene/84679 |
| Ensembl ID | ENSG00000130024 |
| UniProt ID | Q96T83 |
| OMIM ID | 300368 |
| HGNC ID | 11073 |
| Aliases | NHE7, FLJ22357 |
Description
SLC9A7 (Solute Carrier Family 9 Member A7) encodes a sodium/hydrogen exchanger (NHE7) that localizes to the trans-Golgi network and endosomes. It mediates the exchange of extracellular sodium for intracellular protons, playing a critical role in maintaining organellar pH homeostasis. Mutations in this gene are associated with X-linked intellectual disability (XLID) and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair pH regulation in the Golgi, disrupting protein trafficking and neuronal function. | ClinVar, OMIM |
| Intellectual developmental disorder, X-linked 108 | Missense and nonsense variants lead to reduced NHE7 activity. | OMIM #300368 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Testis | 6.7 | Low |
| Lung | 5.1 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma |
| HEK293 | 10.8 | Embryonic kidney |
| HeLa | 7.3 | Cervical carcinoma |
| U2OS | 6.1 | Osteosarcoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Loss of function; truncated protein |
| c.155G>A (p.Arg52Gln) | Missense | Rare | Impaired ion exchange activity |
| c.1648C>T (p.Arg550Trp) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants that reduce or abolish NHE7 ion exchange activity, leading to pH dysregulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • solute:proton antiporter activity (GO:0015299) | • regulation of pH (GO:0006885) |
| • Golgi apparatus (GO:0005794) | • endosome membrane (GO:0010008) |
| • transmembrane transport (GO:0055085) |
Pathways
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
NHE7 is a 725-amino acid multi-pass membrane protein with 12 transmembrane domains. It functions as a Na+/H+ antiporter, utilizing the inward sodium gradient to extrude protons from the Golgi lumen and endosomes, thereby maintaining neutral pH. The protein is ubiquitously expressed with highest levels in brain. Mutations cause X-linked intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC9A7 Knockout HEK293 Cell Line | EDJ-KQ10159 | Human | 84679 | Details Get a Quote |
| SLC9A7 Knockout A-549 Cell Line | EDJ-KQ37265 | Human | 84679 | Details Get a Quote |
| SLC9A7 Knockout HCT 116 Cell Line | EDJ-KQ37266 | Human | 84679 | Details Get a Quote |
| SLC9A7 Knockout HeLa Cell Line | EDJ-KQ37267 | Human | 84679 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
