SLC26A8: Solute Carrier Family 26 Member 8
A testis-specific anion transporter involved in male fertility and spermatogenesis
Gene Information Card
| Symbol | SLC26A8 |
|---|---|
| Full Name | Solute Carrier Family 26 Member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 116369 ncbi.nlm.nih.gov/gene/116369 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q96RN1 |
| OMIM ID | 608480 |
| HGNC ID | 14467 |
| Aliases | TAT1, SPGF3, CFTR-related anion transporter |
Description
SLC26A8 (Solute Carrier Family 26 Member 8) is a protein-coding gene located on chromosome 6p21.31. It encodes a testis-specific anion transporter that mediates chloride and bicarbonate exchange, playing a critical role in sperm motility and capacitation. Mutations in SLC26A8 are associated with male infertility, including asthenozoospermia and congenital bilateral absence of vas deferens (CBAVD). The protein interacts with CFTR and is essential for proper sperm flagellar function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic Failure 3 (SPGF3) | Loss-of-function mutations impair anion transport, leading to defective sperm motility and morphology. | OMIM #606766; ClinVar |
| Congenital Bilateral Absence of Vas Deferens (CBAVD) | SLC26A8 mutations disrupt CFTR interaction and anion homeostasis, causing vas deferens agenesis. | OMIM #277180; ClinVar |
| Asthenozoospermia | Reduced or absent SLC26A8 function results in decreased sperm motility due to flagellar defects. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian Tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids and spermatozoa |
| HEK293 | N/A | Not expressed endogenously |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1336C>T (p.Arg446*) | Nonsense | Rare | Loss of function; associated with SPGF3 |
| c.2152C>T (p.Arg718Trp) | Missense | Rare | Impaired anion transport; linked to CBAVD |
| c.2290G>A (p.Gly764Arg) | Missense | Rare | Reduced protein stability; asthenozoospermia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg446*) lead to truncated protein and complete loss of anion transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Anion transport (REACT_17015)
• Sperm motility and capacitation (REACT_17015)
Protein Summary
SLC26A8 is a 970-amino acid transmembrane protein belonging to the SLC26 family of anion exchangers. It is specifically expressed in the testis, particularly in spermatids and spermatozoa. The protein localizes to the sperm flagellum and mediates chloride/bicarbonate exchange, which is crucial for pH regulation and cAMP signaling during sperm capacitation. SLC26A8 physically interacts with CFTR, and its dysfunction leads to male infertility due to impaired sperm motility and structural defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A8 Knockout HEK293 Cell Line | EDJ-KQ7564 | Human | 116369 | Details Get a Quote |
| SLC26A8 Knockout HeLa Cell Line | EDJ-KQ57982 | Human | 116369 | Details Get a Quote |
| SLC26A8 Knockout A-549 Cell Line | EDJ-KQ66470 | Human | 116369 | Details Get a Quote |
| SLC26A8 Knockout HCT 116 Cell Line | EDJ-KQ74891 | Human | 116369 | Details Get a Quote |
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