SLC26A8 (solute carrier family 26 member 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
116369
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 26 member 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC26A8
Synonyms (NCBI Gene) Gene synonyms aliases
AZON, SPGF3, TAT1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0005254 Function Chloride channel activity IDA 11834742
GO:0005515 Function Protein binding IPI 11278976, 22121115
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 11278976
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608480 14468 ENSG00000112053
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Expression observed exclusively in testis, restricted to the meiotic phase of the germ cell (PubMed:11834742). Abundant expression located in the seminiferous tubules, concentrated on the luminal side of the tubuli harboring the sperma
Sequence 
MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHV
QCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQL
IPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLINVLKVSPFNNGQLVMGSFVKN
EFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLGFIATYLPESAMSAYLAAVALHI
MLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSILVFLTVVVALRINKCIRIS
FNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQ
AFSLSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTII
QDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLW
RQDQYDCALWMMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRS
INDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTN
LQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQ
VPYTVSSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPS
VHTIILDFSMVHYVDSRGLVVLRQICNAFQNANILILIAGCHSSIVRAFERNDFFDAGIT
KTQLFLSVHDAVLFALSRKVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQ
KNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEM
EPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSY
SPEGNSNEDV
Sequence length 970
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spermatogenic Failure spermatogenic failure 3 rs140210148 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Non-Syndromic Male Infertility Due To Sperm Motility Disorder non-syndromic male infertility due to sperm motility disorder N/A N/A GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 37417617
Carcinoma Basal Cell Associate 12783972
Carcinoma Hepatocellular Associate 34493740