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SLC26A8 (solute carrier family 26 member 8)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116369
Gene nameGene Name - the full gene name approved by the HGNC.
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.
SLC26A8
SynonymsGene synonyms aliases
AZON, SPGF3, TAT1
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
SummarySummary of gene provided in NCBI Entrez Gene.
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.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1357962 hsa-miR-3185 CLIP-seq
MIRT2330369 hsa-miR-1252 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity IDA 1183472
GO:0005515 Function Protein binding IPI 11278976, 22121115
GO:0005886 Component Plasma membrane IDA 11278976
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0006820 Process Anion transport IDA 11834742
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHV
QCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQL
IPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLINVLKVSPFNNGQLVMGSFVKN
EFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLGFIATYLPESAMSAYLAAVALHI
MLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSILVFLTVVVALRINKCIRIS
FNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQ
AFSLSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTII
QDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLW
RQDQYDCALWMMT
FSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRS
INDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTN
LQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQ
VPYTVSSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPS
VHTIILDFSMVHYVDSRGLVVLRQICNAFQNANILILIAGCHSSIVRAFERNDFFDAGIT
KTQLFLSVHDA
VLFALSRKVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQ
KNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEM
EPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSY
SPEGNSNEDV
Sequence length 970
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Azoospermia Azoospermia, Nonobstructive rs200969445, rs144567652, rs765353898
Non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder rs753307279
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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