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Aliases for SLC26A6 Gene

Aliases for SLC26A6 Gene

  • Solute Carrier Family 26 (Anion Exchanger), Member 6 2 3
  • Pendrin-Like Protein 1 2 4
  • Solute Carrier Family 26, Member 6 2
  • Anion Exchange Transporter 4
  • Sulfate Anion Transporter 2
  • Anion Transporter 1 2
  • Pendrin L1 2
  • Pendrin-L1 4

External Ids for SLC26A6 Gene

Summaries for SLC26A6 Gene

Entrez Gene Summary for SLC26A6 Gene

  • This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]

GeneCards Summary for SLC26A6 Gene

SLC26A6 (Solute Carrier Family 26 (Anion Exchanger), Member 6) is a Protein Coding gene. Diseases associated with SLC26A6 include acute urate nephropathy and proximal renal tubular acidosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. GO annotations related to this gene include PDZ domain binding and secondary active sulfate transmembrane transporter activity. An important paralog of this gene is SLC26A2.

UniProtKB/Swiss-Prot for SLC26A6 Gene

  • Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH

  • Isoform 4: Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site

Gene Wiki entry for SLC26A6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC26A6 Gene

Genomics for SLC26A6 Gene

Genomic Location for SLC26A6 Gene

Start:
48,625,723 bp from pter
End:
48,635,493 bp from pter
Size:
9,771 bases
Orientation:
Minus strand

Genomic View for SLC26A6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC26A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC26A6 Gene

Regulatory Elements for SLC26A6 Gene

Proteins for SLC26A6 Gene

  • Protein details for SLC26A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXS9-S26A6_HUMAN
    Recommended name:
    Solute carrier family 26 member 6
    Protein Accession:
    Q9BXS9
    Secondary Accessions:
    • B4DMZ1
    • Q548A7
    • Q96Q90
    • Q9NQU1

    Protein attributes for SLC26A6 Gene

    Size:
    759 amino acids
    Molecular mass:
    82967 Da
    Quaternary structure:
    • Interacts (via C-terminal domain) with PDZK1 (via C-terminal PDZ domain); the interaction induces chloride and oxalate exchange transport. Interacts with CFTR, SLC26A3 and SLC9A3R1 (By similarity). Isoform 4 interacts (via C-terminal cytoplasmic domain) with CA2; the interaction stimulates chloride-bicarbonate exchange activity. Isoform 4 and isoform 5 interact with SLC9A3R1 (via the PDZ domains). Isoform 4 and isoform 5 interact with SLC9A3R2 (via the PDZ domains).

    Alternative splice isoforms for SLC26A6 Gene

neXtProt entry for SLC26A6 Gene

Proteomics data for SLC26A6 Gene at MOPED

Post-translational modifications for SLC26A6 Gene

  • Phosphorylated on serine residues by PKC; the phosphorylation disrupts interaction with carbonic anhydrase CA2 and reduces bicarbonate transport activity in a phorbol myristate acetate (PMA)-induced manner.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn167 and Asn172

No data available for DME Specific Peptides for SLC26A6 Gene

Domains for SLC26A6 Gene

Gene Families for SLC26A6 Gene

HGNC:
  • SLC :Solute carriers
IUPHAR :

Protein Domains for SLC26A6 Gene

UniProtKB/Swiss-Prot:

S26A6_HUMAN
Domain:
  • Contains 1 STAS domain.:
    • Q9BXS9
Family:
  • Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.:
    • Q9BXS9
genes like me logo Genes that share domains with SLC26A6: view

Function for SLC26A6 Gene

Molecular function for SLC26A6 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Apical membrane chloride-formate exchange activity in the proximal tubules of the kidney and oxalate secretion in the duodenum are inhibited by 4,4-diisothiocyanatostilbene-2,2-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters) (By similarity). Apical membrane chloride-bicarbonate exchange activity of the pancreatic duct is inhibited by 4,4-diisothiocyanatostilbene-2,2-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters). Isoform 4, isoform 5 and isoform 6 chloride, bicarbonate and sulfate transport activities are inhibited by DIDS.
UniProtKB/Swiss-Prot Function: Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH
UniProtKB/Swiss-Prot Function: Isoform 4: Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site
UniProtKB/Swiss-Prot Induction: Down-regulated by pro-inflammatory cytokine IFN gamma.

Gene Ontology (GO) - Molecular Function for SLC26A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IEA --
GO:0005515 protein binding IPI 12444019
GO:0008271 secondary active sulfate transmembrane transporter activity IEA --
GO:0015106 bicarbonate transmembrane transporter activity ISS --
GO:0015108 chloride transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with SLC26A6: view
genes like me logo Genes that share phenotypes with SLC26A6: view

Animal Models for SLC26A6 Gene

MGI Knock Outs for SLC26A6:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC26A6 Gene

Localization for SLC26A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC26A6 Gene

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane; Multi-pass membrane protein. Microsome. Note=Localized in sperm membranes. Colocalizes with CFTR at the midpiece of sperm tail. Localizes to the apical membrane brush border of epithelial cells in the proximal tubules of kidney, of enterocytes of the small intestine and of gastric parietal cells in the stomach. May be translocated from the cytosolic surface of the cell membrane to the intracellular space by PKC in phorbol myristate acetate (PMA)-induced cells (By similarity). Colocalized with CA2 at the surface of the cell membrane in order to form a bicarbonate transport metabolon; colocalization is reduced in phorbol myristate acetate (PMA)-induced cells. {ECO:0000250}.
Isoform 4: Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Localizes to the apical and basolateral surfaces of tubular wall cells in kidney and in the brush border of pancreatic duct cells.
Isoform 5: Cell membrane; Multi-pass membrane protein.
Isoform 6: Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC26A6 Gene COMPARTMENTS Subcellular localization image for SLC26A6 gene
Compartment Confidence
plasma membrane 4
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC26A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0012506 vesicle membrane ISS --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with SLC26A6: view

Pathways for SLC26A6 Gene

genes like me logo Genes that share pathways with SLC26A6: view

Interacting Proteins for SLC26A6 Gene

Gene Ontology (GO) - Biological Process for SLC26A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006820 anion transport --
GO:0006821 chloride transport IMP 20501439
GO:0008272 sulfate transport ISS --
GO:0015701 bicarbonate transport IMP 20501439
genes like me logo Genes that share ontologies with SLC26A6: view

Transcripts for SLC26A6 Gene

Unigene Clusters for SLC26A6 Gene

Solute carrier family 26, member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC26A6 Gene

No ASD Table

Relevant External Links for SLC26A6 Gene

GeneLoc Exon Structure for
SLC26A6
ECgene alternative splicing isoforms for
SLC26A6

Expression for SLC26A6 Gene

mRNA expression in normal human tissues for SLC26A6 Gene

mRNA differential expression in normal tissues according to GTEx for SLC26A6 Gene

This gene is overexpressed in Whole Blood (4.0) and Colon - Transverse (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC26A6 Gene

SOURCE GeneReport for Unigene cluster for SLC26A6 Gene Hs.631925

mRNA Expression by UniProt/SwissProt for SLC26A6 Gene

Q9BXS9-S26A6_HUMAN
Tissue specificity: Ubiquitous. Highest levels in kidney and pancreas. Lower expression in heart, skeletal muscle, liver and placenta. Also found in lung and brain. Isoform 4 is ubiquitously expressed. Isoform 6 is expressed in heart, brain, placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, testis and ovary. Isoform 5 is expressed weakly in placenta, lung, liver and pancreas.
genes like me logo Genes that share expressions with SLC26A6: view

Orthologs for SLC26A6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC26A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC26A6 36
  • 99.43 (n)
  • 98.94 (a)
SLC26A6 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC26A6 36
  • 84.48 (n)
  • 81.75 (a)
SLC26A6 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC26A6 36
  • 84.77 (n)
  • 82.74 (a)
SLC26A6 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc26a6 36
  • 81.04 (n)
  • 78.37 (a)
Slc26a6 16
Slc26a6 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC26A6 37
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc26a6 36
  • 80.84 (n)
  • 77.35 (a)
chicken
(Gallus gallus)
Aves SLC26A6 36
  • 65.19 (n)
  • 60.49 (a)
SLC26A6 37
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC26A6 37
  • 55 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5431 36
tropical clawed frog
(Silurana tropicalis)
Amphibia slc26a6 36
  • 58.55 (n)
  • 55.46 (a)
Str.15215 36
zebrafish
(Danio rerio)
Actinopterygii slc26a6 36
  • 57.18 (n)
  • 51.75 (a)
slc26a6 37
  • 41 (a)
OneToMany
slc26a6 37
  • 49 (a)
OneToMany
SLC26A6 (3 of 4) 37
  • 43 (a)
OneToMany
slc26a6l 37
  • 44 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5485 38
  • 34 (a)
Esp 38
  • 25 (a)
CG9717 38
  • 25 (a)
worm
(Caenorhabditis elegans)
Secernentea K12G11.2 38
  • 35 (a)
W04G3.6 38
  • 34 (a)
F14D12.5 38
  • 31 (a)
ZK287.2 38
  • 34 (a)
W01B11.2 38
  • 32 (a)
F41D9.5 38
  • 25 (a)
K12G11.1 38
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SULTR4;2 36
  • 42.33 (n)
  • 32.12 (a)
rice
(Oryza sativa)
Liliopsida Os09g0240500 36
  • 42.68 (n)
  • 31.42 (a)
Species with no ortholog for SLC26A6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC26A6 Gene

ENSEMBL:
Gene Tree for SLC26A6 (if available)
TreeFam:
Gene Tree for SLC26A6 (if available)

Paralogs for SLC26A6 Gene

genes like me logo Genes that share paralogs with SLC26A6: view

Variants for SLC26A6 Gene

Sequence variations from dbSNP and Humsavar for SLC26A6 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2276849 -- 48,633,050(-) CCCCC(C/T)GTGTT reference, synonymous-codon
rs2276850 -- 48,632,215(-) CCCCC(C/T)ACCAC intron-variant
rs2276851 -- 48,629,581(+) TCCAC(A/T)AAGGC intron-variant
rs2276852 -- 48,629,490(-) GTCTA(C/T)GACCC intron-variant
rs3821876 -- 48,630,961(-) GGCAT(A/C)CAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC26A6 Gene

Variant ID Type Subtype PubMed ID
nsv523981 CNV Loss 19592680
nsv834685 CNV Loss 17160897
nsv876762 CNV Loss 21882294
nsv818138 CNV Gain 17921354
nsv876763 CNV Loss 21882294
esv2725248 CNV Deletion 23290073

Relevant External Links for SLC26A6 Gene

HapMap Linkage Disequilibrium report
SLC26A6
Human Gene Mutation Database (HGMD)
SLC26A6

Disorders for SLC26A6 Gene

Relevant External Links for SLC26A6

Genetic Association Database (GAD)
SLC26A6
Human Genome Epidemiology (HuGE) Navigator
SLC26A6
genes like me logo Genes that share disorders with SLC26A6: view

No data available for UniProtKB/Swiss-Prot for SLC26A6 Gene

Publications for SLC26A6 Gene

  1. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. (PMID: 11087667) Lohi H. … Kere J. (Genomics 2000) 2 3 4 23
  2. Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. (PMID: 11247665) Waldegger S. … Kubisch C. (Genomics 2001) 2 3 4
  3. Metabolon disruption: a mechanism that regulates bicarbonate transport. (PMID: 15990874) Alvarez B.V. … Casey J.R. (EMBO J. 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SLC26A6 Gene

Sources for SLC26A6 Gene

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