SLC26A8 (solute carrier family 26 member 8)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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116369 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Solute carrier family 26 member 8 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SLC26A8 |
SynonymsGene synonyms aliases
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AZON, SPGF3, TAT1 |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p21.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs142724470 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant |
rs398123027 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q96RN1 |
Protein name |
Testis anion transporter 1 (Anion exchange transporter) (Solute carrier family 26 member 8) |
Protein function |
Antiporter that mediates the exchange of sulfate and oxalate against chloride ions across a membrane (PubMed:11278976, PubMed:11834742). Stimulates anion transport activity of CFTR (PubMed:22121115, PubMed:23582645). May cooperate with CFTR in t |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00916 |
Sulfate_transp |
92 → 493 |
Sulfate permease family |
Family |
PF01740 |
STAS |
544 → 791 |
STAS domain |
Domain |
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Sequence |
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Sequence length |
970 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Azoospermia |
Azoospermia, Nonobstructive |
rs200969445, rs144567652, rs765353898 |
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Non-syndromic male infertility due to sperm motility disorder |
Non-syndromic male infertility due to sperm motility disorder |
rs753307279 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21822266 |
Spermatogenic failure |
SPERMATOGENIC FAILURE 3 |
rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs121918346, rs778145751, rs387906690, rs201095702, rs371195126, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058 |
23582645 |
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