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Aliases for SLC26A8 Gene

Aliases for SLC26A8 Gene

  • Solute Carrier Family 26 Member 8 2 3 4 5
  • Solute Carrier Family 26 (Anion Exchanger), Member 8 2 3
  • TAT1 3 4
  • Solute Carrier Family 26, Member 8 2
  • Anion Transporter/Exchanger-8 3
  • Anion Exchange Transporter 4
  • Testis Anion Transporter 1 3
  • SPGF3 3

External Ids for SLC26A8 Gene

Previous GeneCards Identifiers for SLC26A8 Gene

  • GC06M035913
  • GC06M035958
  • GC06M036019
  • GC06M035911
  • GC06M035631
  • GC06M035975
  • GC06M036113
  • GC06M036307
  • GC06M036675
  • GC06M037027

Summaries for SLC26A8 Gene

Entrez Gene Summary for SLC26A8 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 to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]

GeneCards Summary for SLC26A8 Gene

SLC26A8 (Solute Carrier Family 26 Member 8) is a Protein Coding gene. Diseases associated with SLC26A8 include Spermatogenic Failure 3 and Non-Syndromic Male Infertility Due To Sperm Motility Disorder. Among its related pathways are Tenofovir/Adefovir Pathway, Pharmacokinetics. GO annotations related to this gene include chloride channel activity and sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A3.

UniProtKB/Swiss-Prot for SLC26A8 Gene

  • Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a moleculer complex involved in the regulation of chloride and bicarbonate ions fluxes during sperm capacitation.

Gene Wiki entry for SLC26A8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A8 Gene

Genomics for SLC26A8 Gene

Regulatory Elements for SLC26A8 Gene

Enhancers for SLC26A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G036116 2 FANTOM5 Ensembl ENCODE dbSUPER 48.4 -95.7 -95729 8.0 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF766 ZNF143 FOS DEK SLC26A8 ENSG00000272374 PXT1 SRPK1 MAPK14 BRPF3 MAPK13 LOC102723648 STK38 TCP11
GH06G036063 1.6 Ensembl ENCODE dbSUPER 50.7 -41.4 -41420 6.3 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B FEZF1 DMAP1 ZNF2 SLC26A8 MAPK13 MAPK14 TCP11 ENSG00000237719
GH06G036094 1.6 Ensembl ENCODE dbSUPER 49 -71.3 -71287 3.9 HDGF FOXA2 MLX ARNT ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143 SLC26A8 MAPK13 BRPF3 LOC102723648 FKBP5 ENSG00000232909 ARMC12 SRPK1 TEAD3 ENSG00000237719
GH06G036098 1.5 Ensembl ENCODE dbSUPER 50.9 -75.9 -75854 4.8 HDGF ATF1 PKNOX1 ARNT TCF12 GATA2 JUNB REST ZNF623 ZNF592 SLC26A8 MAPK13 LOC102723648 BRPF3 SRPK1 ARMC12 FKBP5 ENSG00000232909 MAPK14 PIR34765
GH06G036026 1.4 ENCODE dbSUPER 38.6 -3.9 -3937 3.6 CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 SLC26A8 TCP11 MAPK14 ENSG00000237719
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC26A8 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SLC26A8 gene promoter:

Genomic Location for SLC26A8 Gene

Chromosome:
6
Start:
35,943,514 bp from pter
End:
36,024,868 bp from pter
Size:
81,355 bases
Orientation:
Minus strand

Genomic View for SLC26A8 Gene

Genes around SLC26A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC26A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC26A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A8 Gene

Proteins for SLC26A8 Gene

  • Protein details for SLC26A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RN1-S26A8_HUMAN
    Recommended name:
    Testis anion transporter 1
    Protein Accession:
    Q96RN1
    Secondary Accessions:
    • Q5JVR5
    • Q812C7
    • Q8TC65
    • Q96MA0
    • Q96PK8

    Protein attributes for SLC26A8 Gene

    Size:
    970 amino acids
    Molecular mass:
    109006 Da
    Quaternary structure:
    • Interacts with RACGAP1. Interacts with CFTR.
    SequenceCaution:
    • Sequence=AAO26699.1; Type=Miscellaneous discrepancy; Note=Incorrectly indicated as originating from mouse.; Evidence={ECO:0000305}; Sequence=BAB71408.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC26A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC26A8 Gene

Post-translational modifications for SLC26A8 Gene

No data available for DME Specific Peptides for SLC26A8 Gene

Domains & Families for SLC26A8 Gene

Gene Families for SLC26A8 Gene

HGNC:
IUPHAR :

Protein Domains for SLC26A8 Gene

Suggested Antigen Peptide Sequences for SLC26A8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RN1

UniProtKB/Swiss-Prot:

S26A8_HUMAN :
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
genes like me logo Genes that share domains with SLC26A8: view

Function for SLC26A8 Gene

Molecular function for SLC26A8 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is inhibited by 4,4-Di-isothiocyanatostilbene-2,2-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters), gluconate, and by thiosulfate.
UniProtKB/Swiss-Prot Function:
Acts as a DIDS-sensitive anion exchanger mediating chloride, sulfate and oxalate transport. May fulfill critical anion exchange functions in male germ line during meiosis and hence may play a role in spermatogenesis. May be involved in a new regulatory pathway linking sulfate transport to RhoGTPase signaling in male germ cells. A critical component of the sperm annulus that is essential for correct sperm tail differentiation and motility and hence male fertility. May form a moleculer complex involved in the regulation of chloride and bicarbonate ions fluxes during sperm capacitation.
UniProtKB/Swiss-Prot Induction:
Repressed by tunicamycin, an inhibitor of N-glycosylation.

Gene Ontology (GO) - Molecular Function for SLC26A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IDA 1183472
GO:0005515 protein binding IPI 11278976
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0008509 anion transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC26A8: view
genes like me logo Genes that share phenotypes with SLC26A8: view

Human Phenotype Ontology for SLC26A8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC26A8 Gene

MGI Knock Outs for SLC26A8:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC26A8

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SLC26A8 Gene

Localization for SLC26A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A8 Gene

Membrane; Multi-pass membrane protein. Note=Located at the annulus ring structure within the sperm cell. {ECO:0000269 PubMed:11278976, ECO:0000269 PubMed:17517695}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC26A8 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC26A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 11278976
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC26A8: view

Pathways & Interactions for SLC26A8 Gene

genes like me logo Genes that share pathways with SLC26A8: view

Pathways by source for SLC26A8 Gene

1 PharmGKB pathway for SLC26A8 Gene

Gene Ontology (GO) - Biological Process for SLC26A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006820 anion transport IDA,IEA 11834742
GO:0006821 chloride transport IDA 1183472
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with SLC26A8: view

No data available for SIGNOR curated interactions for SLC26A8 Gene

Drugs & Compounds for SLC26A8 Gene

(1) Additional Compounds for SLC26A8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
genes like me logo Genes that share compounds with SLC26A8: view

Transcripts for SLC26A8 Gene

Unigene Clusters for SLC26A8 Gene

Solute carrier family 26, member 8:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^
SP1: - - -
SP2: - -
SP3: - - -
SP4: - -
SP5: - -
SP6: - -

ExUns: 19 ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SLC26A8 Gene

GeneLoc Exon Structure for
SLC26A8
ECgene alternative splicing isoforms for
SLC26A8

Expression for SLC26A8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC26A8 Gene

mRNA differential expression in normal tissues according to GTEx for SLC26A8 Gene

This gene is overexpressed in Whole Blood (x15.2) and Testis (x14.3).

Protein differential expression in normal tissues from HIPED for SLC26A8 Gene

This gene is overexpressed in NK cells (65.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC26A8 Gene



Protein tissue co-expression partners for SLC26A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC26A8 Gene:

SLC26A8

SOURCE GeneReport for Unigene cluster for SLC26A8 Gene:

Hs.435836

mRNA Expression by UniProt/SwissProt for SLC26A8 Gene:

Q96RN1-S26A8_HUMAN
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. Expressed in spermatozoa.

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC26A8 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with SLC26A8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for SLC26A8 Gene

Orthologs for SLC26A8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC26A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A8 34 35
  • 99.14 (n)
dog
(Canis familiaris)
Mammalia SLC26A8 34 35
  • 81.63 (n)
cow
(Bos Taurus)
Mammalia SLC26A8 34 35
  • 78.2 (n)
rat
(Rattus norvegicus)
Mammalia Slc26a8 34
  • 74.71 (n)
mouse
(Mus musculus)
Mammalia Slc26a8 34 16 35
  • 74.62 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC26A8 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A8 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC26A8 34 35
  • 55.04 (n)
lizard
(Anolis carolinensis)
Reptilia SLC26A8 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Prestin 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sulp-7 35
  • 25 (a)
ManyToMany
sulp-8 35
  • 25 (a)
ManyToMany
sulp-2 35
  • 24 (a)
ManyToMany
sulp-4 35
  • 22 (a)
ManyToMany
sulp-5 35
  • 22 (a)
ManyToMany
sulp-3 35
  • 21 (a)
ManyToMany
sulp-6 35
  • 21 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUL1 35
  • 16 (a)
ManyToMany
SUL2 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToOne
Species where no ortholog for SLC26A8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SLC26A8 Gene

ENSEMBL:
Gene Tree for SLC26A8 (if available)
TreeFam:
Gene Tree for SLC26A8 (if available)

Paralogs for SLC26A8 Gene

(4) SIMAP similar genes for SLC26A8 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with SLC26A8: view

Variants for SLC26A8 Gene

Sequence variations from dbSNP and Humsavar for SLC26A8 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs140210148 Pathogenic, Spermatogenic failure 3 (SPGF3) [MIM:606766] 36,012,301(+) TTAAT(C/T)GATAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs142724470 Pathogenic, Spermatogenic failure 3 (SPGF3) [MIM:606766] 35,951,201(+) TGTCT(C/T)GGATT downstream-variant-500B, reference, missense
rs398123027 Pathogenic, Spermatogenic failure 3 (SPGF3) [MIM:606766] 35,943,953(-) GGAGA(C/T)GCCAT reference, missense
rs1000029900 -- 36,001,772(+) ACATA(C/T)AGTTG intron-variant, nc-transcript-variant
rs1000096172 -- 36,025,400(+) CTGTA(A/G)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SLC26A8 Gene

Variant ID Type Subtype PubMed ID
esv3608697 CNV loss 21293372
nsv1131953 CNV deletion 24896259
nsv528432 CNV gain 19592680

Variation tolerance for SLC26A8 Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.30; 85.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC26A8 Gene

Human Gene Mutation Database (HGMD)
SLC26A8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC26A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC26A8 Gene

Disorders for SLC26A8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC26A8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 3
  • spgf43
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
autosomal dominant nonsyndromic deafness 20
  • autosomal dominant deafness 20
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S26A8_HUMAN
  • 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. {ECO:0000269 PubMed:23582645}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC26A8

Genetic Association Database (GAD)
SLC26A8
Human Genome Epidemiology (HuGE) Navigator
SLC26A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC26A8
genes like me logo Genes that share disorders with SLC26A8: view

No data available for Genatlas for SLC26A8 Gene

Publications for SLC26A8 Gene

  1. Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure. (PMID: 15579655) Makela S. … Kere J. (Mol. Hum. Reprod. 2005) 3 4 46 64
  2. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (PMID: 11834742) Lohi H. … Kere J. (J. Biol. Chem. 2002) 2 3 4 64
  3. Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling. (PMID: 11278976) Toure A. … Gacon G. (J. Biol. Chem. 2001) 3 4 22 64
  4. Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. (PMID: 23582645) Dirami T. … TourAc A. (Am. J. Hum. Genet. 2013) 3 4 64
  5. The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation. (PMID: 22121115) Rode B. … Toure A. (Hum. Mol. Genet. 2012) 3 4 64

Products for SLC26A8 Gene

Sources for SLC26A8 Gene

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