SLC4A7: Sodium Bicarbonate Cotransporter 3 (NBCn1)
Solute Carrier Family 4 Member 7 – Ion Transport, pH Regulation, and Disease Associations
Gene Information Card
| Symbol | SLC4A7 |
|---|---|
| Full Name | Solute Carrier Family 4 Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 9497 ncbi.nlm.nih.gov/gene/9497 |
| Ensembl ID | ENSG00000133874 |
| UniProt ID | Q9Y6M7 |
| OMIM ID | 603353 |
| HGNC ID | 11025 |
| Aliases | NBC3, NBCN1, SLC4A7, NBC2, NBCn1 |
Description
SLC4A7 encodes the electroneutral sodium bicarbonate cotransporter NBCn1, a member of the SLC4 family of bicarbonate transporters. NBCn1 mediates the coupled movement of Na+ and HCO3- across the plasma membrane, playing a critical role in intracellular pH regulation, acid-base homeostasis, and ion transport in various tissues including kidney, heart, and breast. Alternative splicing generates multiple isoforms with distinct tissue-specific functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered pH regulation and bicarbonate transport may promote tumor growth and metastasis; SLC4A7 expression is associated with poor prognosis. | PMID: 24130166; COSMIC |
| Hypertension | Variants in SLC4A7 have been linked to blood pressure regulation via effects on renal sodium handling and vascular pH. | OMIM 603353; GWAS studies |
| Hearing loss | NBCn1 is expressed in the inner ear; disruption of pH homeostasis can affect auditory function. | PMID: 20560211 |
| Renal tubular acidosis | Impaired bicarbonate transport in kidney may contribute to acid-base disorders. | ClinVar; PMID: 17576681 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 25.3 | High |
| Breast | 18.7 | Medium |
| Heart | 15.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.5 | High expression |
| MCF7 | 19.8 | Medium expression |
| HepG2 | 10.3 | Low expression |
| A549 | 8.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Val72Met) | Missense | <0.01% | Unknown; predicted benign |
| c.1025C>T (p.Thr342Ile) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1567_1569del (p.Phe523del) | In-frame deletion | <0.01% | Unknown; may affect transporter function |
| c.2014C>T (p.Arg672Trp) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for SLC4A7.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • symporter activity (GO:0015293) | • bicarbonate transport (GO:0015701) |
| • plasma membrane (GO:0005886) | • regulation of intracellular pH (GO:0051453) |
| • sodium ion transport (GO:0006814) |
Pathways
• SLC4-mediated bicarbonate transport (Reactome: R-HSA-425393)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
• Transport of inorganic cations/anions (Reactome: R-HSA-425407)
Protein Summary
NBCn1 (UniProt Q9Y6M7) is a 1,214-amino acid multi-pass membrane protein with 10-14 transmembrane domains. It functions as an electroneutral Na+/HCO3- cotransporter, essential for maintaining cellular pH and ion homeostasis. The protein contains N-terminal cytoplasmic domains involved in regulation and C-terminal PDZ-binding motifs for membrane localization. Isoforms vary by inclusion of cassettes I, II, III, and IV, conferring tissue-specific regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC4A7 Knockout HEK293 Cell Line | EDJ-KQ6609 | Human | 9497 | Details Get a Quote |
| SLC4A7 Knockout A-549 Cell Line | EDJ-KQ30844 | Human | 9497 | Details Get a Quote |
| SLC4A7 Knockout HCT 116 Cell Line | EDJ-KQ30845 | Human | 9497 | Details Get a Quote |
| SLC4A7 Knockout HeLa Cell Line | EDJ-KQ30846 | Human | 9497 | Details Get a Quote |
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