SLC26A8
geneOn this page
Also known as TAT1
Summary
SLC26A8 (solute carrier family 26 member 8, HGNC:14468) is a protein-coding gene on chromosome 6p21.31, encoding Testis anion transporter 1 (Q96RN1). Antiporter that mediates the exchange of sulfate and oxalate against chloride ions across a membrane.
This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described.
Source: NCBI Gene 116369 — RefSeq curated summary.
At a glance
- Gene–disease (curated): non-syndromic male infertility due to sperm motility disorder (Strong, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 184 total — 3 pathogenic
- Phenotypes (HPO): 4
- MANE Select transcript:
NM_052961
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14468 |
| Approved symbol | SLC26A8 |
| Name | solute carrier family 26 member 8 |
| Location | 6p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TAT1 |
| Ensembl gene | ENSG00000112053 |
| Ensembl biotype | protein_coding |
| OMIM | 608480 |
| Entrez | 116369 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron
ENST00000355574, ENST00000394602, ENST00000465492, ENST00000466805, ENST00000469847, ENST00000480663, ENST00000486155, ENST00000490799, ENST00000950665
RefSeq mRNA: 3 — MANE Select: NM_052961
NM_001193476, NM_052961, NM_138718
CCDS: CCDS4813, CCDS4814
Canonical transcript exons
ENST00000490799 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001821577 | 36024504 | 36024641 |
| ENSE00001855027 | 35943516 | 35944340 |
| ENSE00003483215 | 35977204 | 35977351 |
| ENSE00003506981 | 35992510 | 35992674 |
| ENSE00003511407 | 35968877 | 35968954 |
| ENSE00003516274 | 35951163 | 35951347 |
| ENSE00003551807 | 35960993 | 35961099 |
| ENSE00003575355 | 35962526 | 35962621 |
| ENSE00003592312 | 35951445 | 35951499 |
| ENSE00003592917 | 35975375 | 35975488 |
| ENSE00003593443 | 35982121 | 35982203 |
| ENSE00003603235 | 36019520 | 36019709 |
| ENSE00003613149 | 35959714 | 35959806 |
| ENSE00003627045 | 35999992 | 36000108 |
| ENSE00003637272 | 35997738 | 35997919 |
| ENSE00003651590 | 35960843 | 35960912 |
| ENSE00003653485 | 36012233 | 36012372 |
| ENSE00003655369 | 35991659 | 35991808 |
| ENSE00003677614 | 35959460 | 35959591 |
| ENSE00003678355 | 35955152 | 35955520 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 89.95.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5167 / max 206.1458, expressed in 125 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73331 | 0.4294 | 98 |
| 73332 | 0.0873 | 54 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 89.95 | gold quality |
| right testis | UBERON:0004534 | 89.07 | gold quality |
| testis | UBERON:0000473 | 87.05 | gold quality |
| adult organism | UBERON:0007023 | 82.14 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.30 | gold quality |
| cerebellar cortex | UBERON:0002129 | 78.19 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.19 | gold quality |
| secondary oocyte | CL:0000655 | 76.47 | gold quality |
| cerebellum | UBERON:0002037 | 76.11 | gold quality |
| sperm | CL:0000019 | 75.69 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.56 | silver quality |
| blood | UBERON:0000178 | 74.09 | gold quality |
| oocyte | CL:0000023 | 72.83 | gold quality |
| bone marrow cell | CL:0002092 | 72.44 | gold quality |
| right frontal lobe | UBERON:0002810 | 71.04 | gold quality |
| nucleus accumbens | UBERON:0001882 | 69.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 69.41 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 68.98 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.84 | gold quality |
| hypothalamus | UBERON:0001898 | 68.29 | gold quality |
| caudate nucleus | UBERON:0001873 | 67.66 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 67.48 | gold quality |
| putamen | UBERON:0001874 | 67.16 | gold quality |
| cortical plate | UBERON:0005343 | 67.11 | gold quality |
| primary visual cortex | UBERON:0002436 | 66.81 | gold quality |
| monocyte | CL:0000576 | 66.80 | gold quality |
| leukocyte | CL:0000738 | 66.72 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 66.50 | silver quality |
| neocortex | UBERON:0001950 | 66.50 | gold quality |
| frontal cortex | UBERON:0001870 | 66.32 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting SLC26A8, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-7154-5P | 99.69 | 70.52 | 1900 |
| HSA-MIR-4756-3P | 99.62 | 66.30 | 1319 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-4728-3P | 99.47 | 68.94 | 981 |
| HSA-MIR-6868-5P | 99.06 | 65.69 | 1284 |
| HSA-MIR-8066 | 99.05 | 68.66 | 1532 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-5187-5P | 98.54 | 67.94 | 952 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-6757-5P | 98.08 | 65.50 | 724 |
| HSA-MIR-4736 | 97.96 | 65.89 | 1287 |
| HSA-MIR-3159 | 97.94 | 66.79 | 1098 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-8055 | 97.62 | 66.09 | 1023 |
| HSA-MIR-1202 | 97.19 | 66.43 | 827 |
| HSA-MIR-3972 | 97.19 | 66.46 | 808 |
| HSA-MIR-4750-3P | 96.65 | 64.38 | 512 |
| HSA-MIR-6742-5P | 96.32 | 64.01 | 869 |
| HSA-MIR-5191 | 95.22 | 64.69 | 354 |
| HSA-MIR-6846-3P | 94.80 | 65.19 | 389 |
| HSA-MIR-1229-5P | 94.57 | 65.78 | 487 |
Literature-anchored findings (GeneRIF, showing 5)
- SLC26A8 mutations are not a common cause of male infertility. (PMID:15579655)
- structural defects in sperm are not caused by abnormal transcription or point mutations of the TAT1 and SEPT4 genes; however, although both proteins are expressed, they are not properly localized at sperm annulus (PMID:19221096)
- Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. (PMID:23582645)
- Novel biallelic mutations in SLC26A8 cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease. (PMID:34923715)
- The heterozygous mutations of SLC26A8 are not the main actors for male infertility. (PMID:35181959)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc26a8 | ENSMUSG00000036196 |
| rattus_norvegicus | Slc26a8 | ENSRNOG00000000512 |
Paralogs (9): SLC26A4 (ENSG00000091137), SLC26A3 (ENSG00000091138), SLC26A1 (ENSG00000145217), SLC26A7 (ENSG00000147606), SLC26A2 (ENSG00000155850), SLC26A5 (ENSG00000170615), SLC26A9 (ENSG00000174502), SLC26A11 (ENSG00000181045), SLC26A6 (ENSG00000225697)
Protein
Protein identifiers
Testis anion transporter 1 — Q96RN1 (reviewed: Q96RN1)
Alternative names: Anion exchange transporter, Solute carrier family 26 member 8
All UniProt accessions (4): Q96RN1, C9JMV8, H7C4T4, H7C5E6
UniProt curated annotations — full annotation on UniProt →
Function. Antiporter that mediates the exchange of sulfate and oxalate against chloride ions across a membrane. Stimulates anion transport activity of CFTR. May cooperate with CFTR in the regulation of chloride and bicarbonate ions fluxes required for activation of the ADCY10/PKA pathway during sperm motility and sperm capacitation. May play a role in sperm tail differentiation and motility and hence male fertility.
Subunit / interactions. Interacts with RACGAP1. Interacts with CFTR; stimulates anion transport activity of CFTR.
Subcellular location. Membrane.
Tissue specificity. Expression observed exclusively in testis, restricted to the meiotic phase of the germ cell. Abundant expression located in the seminiferous tubules, concentrated on the luminal side of the tubuli harboring the spermatocytes and spermatids.
Post-translational modifications. N-glycosylated.
Disease relevance. Spermatogenic failure 3 (SPGF3) [MIM:606766] A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low. The disease is caused by variants affecting the gene represented in this entry.
Activity regulation. Activity is inhibited by 4,4’-Di-isothiocyanatostilbene-2,2’-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters) and gluconate.
Induction. Repressed by tunicamycin, an inhibitor of N-glycosylation.
Similarity. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96RN1-1 | 1 | yes |
| Q96RN1-2 | 2 | |
| Q96RN1-3 | 3 | |
| Q96RN1-4 | 4 |
RefSeq proteins (3): NP_001180405, NP_443193, NP_619732 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001902 | SLC26A/SulP_fam | Family |
| IPR002645 | STAS_dom | Domain |
| IPR011547 | SLC26A/SulP_dom | Domain |
| IPR036513 | STAS_dom_sf | Homologous_superfamily |
Pfam: PF00916, PF01740
Catalyzed reactions (Rhea), 2 shown:
- oxalate(in) + chloride(out) = oxalate(out) + chloride(in) (RHEA:72263)
- sulfate(out) + chloride(in) = sulfate(in) + chloride(out) (RHEA:75295)
UniProt features (48 total): topological domain 13, transmembrane region 12, sequence variant 7, splice variant 5, compositionally biased region 3, region of interest 2, sequence conflict 2, chain 1, domain 1, glycosylation site 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96RN1-F1 | 68.44 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 192
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 914 | not a cause of male infertility. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
MODULE_255, MODULE_317, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_CHLORIDE_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOBP_DICARBOXYLIC_ACID_TRANSPORT, GOBP_OXALATE_TRANSPORT, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_MEIOTIC_CELL_CYCLE, GOCC_MOTILE_CILIUM, MARSON_BOUND_BY_FOXP3_STIMULATED
GO Biological Process (9): chloride transport (GO:0006821), spermatogenesis (GO:0007283), oxalate transport (GO:0019532), cell differentiation (GO:0030154), meiotic cell cycle (GO:0051321), sulfate transmembrane transport (GO:1902358), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), transmembrane transport (GO:0055085)
GO Molecular Function (7): chloride channel activity (GO:0005254), sulfate transmembrane transporter activity (GO:0015116), oxalate transmembrane transporter activity (GO:0019531), chloride:bicarbonate antiporter activity (GO:0140900), sulfate:chloride antiporter activity (GO:0160044), protein binding (GO:0005515), antiporter activity (GO:0015297)
GO Cellular Component (3): plasma membrane (GO:0005886), sperm annulus (GO:0097227), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chloride transmembrane transporter activity | 3 |
| inorganic anion transport | 2 |
| transport | 2 |
| solute:inorganic anion antiporter activity | 2 |
| cellular anatomical structure | 2 |
| monoatomic anion transport | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| dicarboxylic acid transport | 1 |
| cellular developmental process | 1 |
| cell cycle | 1 |
| sexual reproduction | 1 |
| reproductive process | 1 |
| meiotic nuclear division | 1 |
| transmembrane transport | 1 |
| sulfur compound transport | 1 |
| chloride transport | 1 |
| monoatomic anion transmembrane transport | 1 |
| cellular process | 1 |
| monoatomic anion channel activity | 1 |
| sulfur compound transmembrane transporter activity | 1 |
| sulfate transmembrane transport | 1 |
| dicarboxylic acid transmembrane transporter activity | 1 |
| oxalate transport | 1 |
| bicarbonate:monoatomic anion antiporter activity | 1 |
| secondary active sulfate transmembrane transporter activity | 1 |
| binding | 1 |
| secondary active transmembrane transporter activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| sperm flagellum | 1 |
Protein interactions and networks
STRING
1222 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC26A8 | RACGAP1 | Q9H0H5 | 932 |
| SLC26A8 | ANLN | Q9NQW6 | 767 |
| SLC26A8 | ECT2 | Q9H8V3 | 684 |
| SLC26A8 | CFTR | P13569 | 623 |
| SLC26A8 | KIF23 | Q02241 | 587 |
| SLC26A8 | DNAJB13 | P59910 | 506 |
| SLC26A8 | SLC26A9 | Q7LBE3 | 498 |
| SLC26A8 | MYL2 | P10916 | 497 |
| SLC26A8 | SLC26A3 | P40879 | 490 |
| SLC26A8 | SLC26A4 | O43511 | 479 |
| SLC26A8 | DRC9 | Q9H095 | 468 |
| SLC26A8 | GARIN2 | Q8N9W8 | 455 |
| SLC26A8 | SEPTIN4 | O43236 | 443 |
| SLC26A8 | DPY19L2 | Q6NUT2 | 440 |
| SLC26A8 | MYH13 | Q9UKX3 | 440 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC26A8 | RACGAP1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| RACGAP1 | SLC26A8 | psi-mi:“MI:0915”(physical association) | 0.510 |
| CFTR | SLC26A8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC26A8 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (89): SLC26A8 (Two-hybrid), SLC26A8 (Reconstituted Complex), AAAS (Affinity Capture-MS), ABCC4 (Affinity Capture-MS), ADCK2 (Affinity Capture-MS), AMFR (Affinity Capture-MS), BAG2 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), CDKAL1 (Affinity Capture-MS), CLPTM1 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), DNAJB12 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2K1Q8, A0AV02, A2A6C4, A5D7L5, A6QNW6, B1MTL0, B2RXE2, C1BKZ7, O18917, P04920, P0DX17, P13808, P16283, P23347, P23348, P35523, P35524, P48746, P48751, P58295, Q0P5V9, Q14940, Q15043, Q15477, Q3MJ16, Q504Y0, Q50L42, Q5FWH7, Q5RB85, Q5RD44, Q64347, Q6A4L1, Q6SJP2, Q761V0, Q8BXR1, Q8CJI3, Q8K0H7, Q8R420, Q8VI23, Q91WD2
Diamond homologs: A6QNW6, Q4R445, Q8R0C3, Q96RN1, P40879, Q8BU91, Q924C9, Q9WVC8, A0FKN5, A4IIF2, A8J6J0, G3C7W6, O43511, O70531, P45380, P50443, P58735, P58743, Q5EBI0, Q5RAL2, Q62273, Q65AC2, Q69DJ1, Q7LBE3, Q7T2C4, Q86WA9, Q8CIW6, Q8HY59, Q8NG04, Q8R2Z3, Q8TE54, Q99NH7, Q9BEG8, Q9BXS9, Q9EPH0, Q9GJY3, Q9H2B4, Q9JKQ2, Q9R154, Q9R155
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
184 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 112 |
| Likely benign | 24 |
| Benign | 30 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1686928 | NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro) | Pathogenic |
| 1686929 | NM_052961.4(SLC26A8):c.1664del (p.Ile555fs) | Pathogenic |
| 50909 | NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) | Pathogenic |
SpliceAI
3449 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:35951158:CTGA:C | donor_loss | 1.0000 |
| 6:35951161:ACCTT:A | donor_loss | 1.0000 |
| 6:35951162:CC:C | donor_loss | 1.0000 |
| 6:35951348:C:CC | acceptor_gain | 1.0000 |
| 6:35951443:A:AC | donor_gain | 1.0000 |
| 6:35951444:C:CC | donor_gain | 1.0000 |
| 6:35959457:AAC:A | donor_gain | 1.0000 |
| 6:35959458:AC:A | donor_gain | 1.0000 |
| 6:35959459:CC:C | donor_gain | 1.0000 |
| 6:35962524:A:AC | donor_gain | 1.0000 |
| 6:35962525:C:CC | donor_gain | 1.0000 |
| 6:35962525:CA:C | donor_gain | 1.0000 |
| 6:35975370:CATA:C | donor_loss | 1.0000 |
| 6:35975371:ATAC:A | donor_loss | 1.0000 |
| 6:35975372:TA:T | donor_loss | 1.0000 |
| 6:35975374:CCTGT:C | donor_loss | 1.0000 |
| 6:36019584:T:TA | donor_gain | 1.0000 |
| 6:36019707:TTC:T | acceptor_gain | 1.0000 |
| 6:36019718:G:GC | acceptor_gain | 1.0000 |
| 6:36027841:G:GT | donor_gain | 1.0000 |
| 6:36028269:GTGTG:G | donor_gain | 1.0000 |
| 6:35944337:CATT:C | acceptor_gain | 0.9900 |
| 6:35944339:TT:T | acceptor_gain | 0.9900 |
| 6:35944339:TTCTG:T | acceptor_loss | 0.9900 |
| 6:35944341:C:CC | acceptor_gain | 0.9900 |
| 6:35944341:CT:C | acceptor_loss | 0.9900 |
| 6:35948901:AAAC:A | donor_gain | 0.9900 |
| 6:35948915:TTCC:T | donor_gain | 0.9900 |
| 6:35948916:TCC:T | donor_gain | 0.9900 |
| 6:35951219:A:C | donor_gain | 0.9900 |
AlphaMissense
6404 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:35951264:C:G | A791P | 0.997 |
| 6:35977273:G:C | S368R | 0.997 |
| 6:35977273:G:T | S368R | 0.997 |
| 6:35977275:T:G | S368R | 0.997 |
| 6:35951263:G:T | A791D | 0.996 |
| 6:35951280:G:C | F785L | 0.993 |
| 6:35951280:G:T | F785L | 0.993 |
| 6:35951282:A:G | F785L | 0.993 |
| 6:35951284:A:G | L784P | 0.993 |
| 6:35955207:A:G | L726P | 0.993 |
| 6:35960869:A:C | Y538D | 0.993 |
| 6:35997748:C:T | G206E | 0.993 |
| 6:35997749:C:A | G206W | 0.993 |
| 6:35951251:G:T | A795D | 0.992 |
| 6:35955210:A:T | I725N | 0.992 |
| 6:35959724:A:G | L574P | 0.992 |
| 6:35975453:A:C | S403R | 0.992 |
| 6:35975453:A:T | S403R | 0.992 |
| 6:35975455:T:G | S403R | 0.992 |
| 6:35975472:C:T | G397D | 0.992 |
| 6:35997749:C:G | G206R | 0.992 |
| 6:35997749:C:T | G206R | 0.992 |
| 6:36000015:C:T | G141E | 0.991 |
| 6:35951266:T:A | D790V | 0.990 |
| 6:35951281:A:G | F785S | 0.990 |
| 6:35951462:A:G | L757P | 0.990 |
| 6:35975473:C:G | G397R | 0.990 |
| 6:35951267:C:G | D790H | 0.989 |
| 6:35951274:G:C | S787R | 0.989 |
| 6:35951274:G:T | S787R | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000029900 (6:36001772 T>C), RS1000096172 (6:36025400 G>A), RS1000128682 (6:35948773 G>A), RS1000131575 (6:35992194 G>A), RS1000215599 (6:35980606 G>T), RS1000262311 (6:35975550 T>C), RS1000314065 (6:35975849 G>A,T), RS1000314159 (6:35979069 C>G), RS1000341548 (6:35998346 A>T), RS1000346545 (6:36008867 A>G), RS1000428773 (6:35979293 C>T), RS1000429223 (6:36015704 C>A,G,T), RS1000490034 (6:36022831 G>A), RS1000520385 (6:35987276 T>G), RS1000524052 (6:35943746 G>A)
Disease associations
OMIM: gene MIM:608480 | disease phenotypes: MIM:606766
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| non-syndromic male infertility due to sperm motility disorder | Strong | Autosomal recessive |
| spermatogenic failure 3 | Limited | Autosomal dominant |
Mondo (2): spermatogenic failure 3 (MONDO:0011720), (MONDO:0017173)
Orphanet (1): Non-syndromic male infertility due to sperm motility disorder (Orphanet:276234)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003251 | Male infertility |
| HP:0011462 | Young adult onset |
| HP:0012207 | Reduced sperm motility |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007355_3 | Antidepressant treatment resistance (> 2 drugs prescribed) | 4.000000e-07 |
| GCST012490_19 | Femur bone mineral density x serum urate levels interaction | 6.000000e-13 |
| GCST90000025_496 | Appendicular lean mass | 2.000000e-18 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564665 | Azoospermia, Nonobstructive (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — Other SLC26 anion exchangers
CTD chemical–gene interactions
9 total (human), top 9 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation | 1 |
| potassium perchlorate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Norethindrone Acetate | increases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4E2 | HEK-SLC26A8-KO-c1 | Transformed cell line | Female |
| CVCL_D4E3 | HEK-SLC26A8-KO-c2 | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: spermatogenic failure 3
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 3